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Introducción: La infiltración del sistema nervioso central por células malignas constituye una complicación grave de algunas neoplasias hematológicas, principalmente leucemias agudas y linfomas agresivos. Objetivo: Resumir la base científica y la significación clínica de los métodos de estudio del líquido cefalorraquídeo para el diagnóstico y el seguimiento de la infiltración neuromeníngea en pacientes con neoplasias hematológicas. Métodos: Se buscó información durante abril de 2021 en las bases de datos PubMed, ScienceDirect y SciELO. Se seleccionaron las publicaciones en base a su tipología, actualidad, alcance y las limitaciones de los estudios. Conclusiones: El estudio citomorfológico del líquido cefalorraquídeo se considera el método estándar para el diagnóstico y el seguimiento de la infiltración neuromeníngea. La citometría de flujo resulta más sensible para la detección de infiltración oculta que la citología convencional; pero aún existen reservas sobre su significación clínica. Se investiga también la sensibilidad de otros estudios moleculares como el uso de la reacción en cadena de la polimerasa y la detección de biomarcadores(AU)
Introduction: Infiltration of the central nervous system by malignant cells constitutes a serious complication of some hematological malignancies, mainly acute leukemias and aggressive lymphomas. Objective: To summarize the scientific basis and clinical significance of cerebrospinal fluid study methods for the diagnosis and follow-up of neuromeningeal infiltration in patients with hematologic malignancies. Methods: Information was searched during April 2021 in PubMed, ScienceDirect and SciELO databases. Publications were selected based on their typology, timeliness, scope, and study limitations. Conclusions: The cytomorphological study of cerebrospinal fluid is considered the standard method for the diagnosis and follow-up of neuromeningeal infiltration. Flow cytometry is more sensitive for the detection of occult infiltration than conventional cytology, but there are still reservations about its clinical significance. The sensitivity of other molecular studies such as the use of PCR and biomarker detection is also investigated(AU)
Тема - темы
Humans , Hematologic Neoplasms/cerebrospinal fluid , Biomarkers , Central Nervous System , Polymerase Chain Reaction , Flow CytometryРеферат
Objective To analyze the risk factors for survival in patients with hematological malignancies after hematopoietic stem cell transplantation (HSCT), to establish a risk prediction and survival prediction model, and to provide a reference for clinical diagnosis and treatment. Methods A total of 237 patients with malignant hematological diseases who underwent HSCT at West China Hospital of Sichuan University from January 2017 to April 2019 were selected as the study subjects. The survival of all patients after HSCT was statistically analyzed. The influencing factors of survival were analyzed by multivariate regression analysis, and the prediction model was constructed. Results A total of 237 patients with hematological malignancies were included in this study. After 3 years of follow-up, 85 patients died, with a mortality rate of 35.86%. Multivariate logistic analysis showed that diabetes mellitus (OR=4.358, P=0.007), infection (OR=3.522, P=0.000), neutropenia time >7d (OR=2.734, P=0.009), incomplete HLA matching (OR=5.688, P=0.000), cGVHD (OR=2.593, P=0.007) and HCT-CI (OR=6.701, P=0.000) were independent risk factors affecting the survival of patients with hematological malignancies after HSCT (P(3.192 + 01.259 + 1.472 ×(diabetes mellitus) + 1.259×(infection) + 1.006 ×(neutropenia time) + 1.738 ×(HLA matching) + 0.953 ×(cGVHD) + 1.902 ×(HCT-CI)), Hosmer-Lemeshow χ2=6.692, P=0.462. AUC and 95%CI of the model for predicting survival were 0.836 and 0.783-0.888, showing good fit and predictive efficiency. Conclusion Diabetes mellitus, infection, neutropenia time >7d, incomplete HLA matching, cGVHD and HCT-CI are all high-risk factors of survival in patients with malignant hematologic disease after HSCT. Clinically, attentions should be paid to these patients and intervention measures should be taken to improve their survival after HSCT.
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The biosynthesis and maturation of proteins are primarily regulated by the endoplasmic reticulum in its physiological state. Thus, the disruption of physiological homeostasis initiates the buildup of unfolded and misfolded proteins in the endoplasmic reticulum, resulting in endoplasmic reticulum stress (ERS) and unfolded protein response (UPR). One of the important pathways by which UPR maintains intracellular homeostasis under ERS is activating protein kinase R-like endoplasmic reticulum kinase (PERK). The activation of the PERK pathway stimulates eukaryotic translation initiation factor 2 subunit-α (eIF2α) phosphorylation and the selective translation of active transcription factor 4 (ATF4), and PERK induces cell apoptosis by directly binding to the promoter of pro-apoptotic transcription factor C/EBP homologous protein (CHOP). This signaling pathway is also one of the important mechanisms by which UPR participates in the regulation of hematological malignancies and immune cells in a tumor microenvironment. This article provides an overview of advancements in research into the PERK-eIF2α-ATF4-CHOP signaling pathway in hematological malignancies and the potential therapeutic benefits of targeting this signaling pathway.
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Abstract Invasive fungal infection (IFI) is frequent in patients with hematologic malignancies or submitted hematopoietic stem cell transplantation (HSCT). Objectives To evaluate the role of the GM (galactomannan) test in prescribing therapeutic antifungals; to determine invasive aspergillosis (IA) frequency, the factors associated with positive GM test, and the in-hospital mortality. Methods We conducted a retrospective observational study including patients aged 18 or over with hematological malignancy or submitted to HSCT. GM test was measured twice weekly. The hypothesis of IFI was considered in patients with neutropenia and persistent fever despite broad-spectrum antibiotics. Results A total of 496 patients were evaluated; the mean of GM tests performed per patient was 4.2 (+3.1), and 86 (17.3 %) had positive results. IFI was diagnosed in 166 (33.5 %) and IA in 22 (24.6 %) patients. Positive GM test was more frequent in patients with IFI (72.2 % and 25.1 %; OR 8.1; 95 % CI 4.8 - 13.8), and was associated with therapeutic antifungals prescription (52, 9 % and 20.5 %; OR 4.3, 95CI% 2.0 - 9.4), as well as lung abnormalities on HRCT (45.3% vs. 21.5 %; OR 3.0, 95 %CI 1.4 - 6.5). Mortality was 31.6 %. In the multivariate analysis, the variables associated with mortality were the hypothesis of IFI (OR 6.35; 95 % CI 3.63-11.12.0), lung abnormalities on HRCT (57.9 % and 26.9 %; OR 2 0.6; 95 % CI 1.5 - 4.4), and positive GM test (57.9 % and 26.9 %; OR 2.7 95 % CI 1.6 - 4.5). Conclusions Positive GM test was associated with lung abnormalities on HRCT and with the introduction of therapeutic antifungals. If adequate anti-mold prophylaxis is available, the GM test should not be used as screening, but to investigate IFI in high-risk patients. The diagnosis of IFI, positive GM test and lung abnormalities on HRCT were predictors of hospital mortality in patients with hematological malignancies or undergoing HSCT.
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INTRODUCCIÓN: Las infecciones fúngicas invasoras (IFI) en pacientes con neoplasias hematológicas (NH) representan un desafío diagnóstico y terapéutico. OBJETIVOS: Describir la etiología, características clínicas, diagnóstico y evolución de los episodios de IFI probadas y probables en pacientes con NH y trasplante de progenitores hematopoyéticos (TPH). PACIENTES Y MÉTODOS: Estudio descriptivo, retrospectivo y de cohorte que incluyó IFI probadas y probables en pacientes adultos con NH y TPH. Se realizó seguimiento hasta el día 90. RESULTADOS: Se incluyeron 80 episodios de IFI: 49% probadas y 51% probables, 67,5% por hongos filamentosos (HF), 30% por hongos levaduriformes (HL) y 2,5% por hongos dimorfos. Los tipos de IFI más frecuentes fueron aspergilosis invasoras pulmonares (AP) y candidiasis invasoras (CI), en su mayoría por Candida spp. no albicans. Todos los casos de AP se diagnosticaron por detección de galactomanano en sangre y/o lavado broncoalveolar, y solamente 22,2% presentaban nódulos con halo en la tomografía computada (TC) de tórax, siendo los infiltrados inespecíficos los hallazgos más frecuentes. Tuvieron coinfección bacteriana y viral el 30 y 17,5%, respectivamente. El 50% fueron IFI de brecha, y la mortalidad global y mortalidad relacionada a la IFI fue 51 y 24%, respectivamente. CONCLUSIÓN: Los HF fueron la principal causa de IFI, con una gran proporción de IFI de brecha, y presentaron elevada mortalidad. Para el diagnóstico, resulta importante la utilización de biomarcadores y jerarquizar cualquier imagen patológica en la TC.
BACKGROUND: Invasive fungal infections (IFI) in patients with hematological malignancies (HM) represent a diagnostic and therapeutic challenge. AIM: To describe the etiology, clinical characteristics, diagnosis and evolution of proven and probable IFI episodes in patients with HM and hematopoietic stem cell transplantation (HSCT). METHODS: Retrospective, descriptive, cohort study performed in adult patients with HM and HSCT, who developed proven and probable IFI. Follow-up was carried out until day 90. RESULTS: A total of 80 IFI episodes were included: 49% proven and 51% probable, 67,5% due to mold (M), 30% to yeast-like fungi (Y) and 2,5% to dimorphic fungi. The most frequent causes were probable pulmonary aspergillosis (PA) and invasive candidiasis (IC), mainly due to non-albicans Candida species. PA were all diagnosed by detection of galactomannan (GM) in blood and bronchoalveolar lavage, and only 22,2% presented halo sign on chest CT. Bacterial and viral coinfections were reported in 30% and 17,5% respectively. Breakthrough IFI occurred in 50%, and global and IFI-related mortality were 51% and 24% respectively. CONCLUSION: Mold was the main cause of IFI, with a large proportion of breakthrough IFI, presenting high mortality. The use of biomarkers and the classification of any pathological image on CT contribute to the diagnosis.
Тема - темы
Humans , Male , Female , Adult , Middle Aged , Aged , Hematologic Neoplasms/complications , Invasive Fungal Infections/diagnosis , Invasive Fungal Infections/etiology , Argentina , Clinical Evolution , Retrospective Studies , Risk Factors , Hematopoietic Stem Cell Transplantation/adverse effects , Hematologic Neoplasms/mortality , Invasive Fungal Infections/mortality , Invasive Fungal Infections/drug therapy , Hospitals, University , Antifungal Agents/therapeutic useРеферат
ABSTRACT Introduction: The data on the pattern of primary hematologic malignancies in Bahrain is sparse, although previously published studies suggested rising trends in their incidence. This study aimed to compare with regional and world data and identify any changing trends. Methods: A retrospective cross-sectional chart analysis study was done on all cases of primary hematologic malignancies of bone marrow origin of Bahraini nationals presenting during the 10-year period from January 2005 to December 2014 at the sole oncology referral center in Bahrain during the study period. Results: In a total of 272 cases, the primary hematologic malignancies in decreasing order of frequency with respective median ages at diagnosis were: acute myeloid leukemia (AML; 26.1%, 39 years), acute lymphoblastic leukemia (ALL; 22.8%, 9 years), multiple myeloma (MM, 16.2%, 57 years), chronic myeloid leukemia (CML, 14%, 39.5 years), myelodysplastic syndromes (MDS; 12.5%, 56 years) and chronic lymphocytic leukemia (CLL; 5.5%, 65 years). The overall crude annual incidence rate of these malignancies was 4.8/105 population. Age-specific incidence rates were found to increase dramatically with age, except for ALL, for which it peaked in the pediatric age group. The age-standardized incidence rates (ASIRs) per 105 per year were 1.47 (AML), 1.13 (MM), 0.93 (ALL), 0.85 (MDS), 0.81 (CML) and 0.44 (CLL). Conclusion: The pattern of primary hematologic malignancies in Bahrain shows unique features that distinguish it from trends reported in Eastern and Western world populations.
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El sarcoma sinovial pleuropulmonar (SSPP) es un tumor primario de pulmón, maligno, infrecuente en pediatría (prevalencia 0,1-0,5 %) que afecta predominantemente a adolescentes y adultos jóvenes. Se ha descrito una sobrevida global cercana al 30 % a los 5 años. Se reporta el caso de un paciente de 12 años de edad, previamente sano, que presentó tos, dolor torácico y disnea de comienzo súbito, como manifestación inicial de neumotórax izquierdo, el que persistió a los 4 días y requirió resección quirúrgica de lesión bullosa pulmonar. Se realizó diagnóstico histológico de sarcoma sinovial pleuropulmonar confirmado por estudio molecular, que evidenció la translocación cromosómica entre el cromosoma X y el 18: t(X;18) (p11.2;q11.2) de la pieza quirúrgica extirpada. Ante pacientes con neumotórax persistente o recidivante, es importante descartar causas secundarias, entre ellas, sarcoma sinovial pleuropulmonar. Su ominoso pronóstico determina la necesidad de arribar a un diagnóstico temprano e implementar un tratamiento agresivo
Pleuropulmonary synovial sarcoma (PPSS) is a primary malignancy of the lung, uncommon in pediatrics (prevalence: 0.10.5%) that predominantly affects adolescents and young adults. Overall survival has been reported to be close to 30% at 5 years. Here we report the case of a previously healthy 12-year-old male patient who presented with cough, chest pain, and dyspnea of sudden onset as initial manifestation of left pneumothorax, which persisted after 4 days and required surgical resection of pulmonary bullous lesion. A histological diagnosis of pleuropulmonary synovial sarcoma was made and confirmed by molecular study, which showed chromosomal translocation between chromosomes X and 18: t(X;18) (p11.2;q11.2) in the surgical specimen removed. In patients with persistent or recurrent pneumothorax, it is important to rule out secondary causes, including pleuropulmonary synovial sarcoma. Such poor prognosis determines the need for early diagnosis and aggressive treatment.
Тема - темы
Humans , Male , Child , Pneumothorax/complications , Pneumothorax/etiology , Sarcoma, Synovial/complications , Sarcoma, Synovial/diagnosis , Sarcoma, Synovial/pathology , Lung Neoplasms/complications , Lung Neoplasms/diagnosis , Cough , Lung/pathologyРеферат
Although breast carcinoma is common, metastatic deposits to the breast from extramammary neoplasms are rare. Clinically and radiologically, metastatic neoplasms may mimic primary benign and malignant neoplasms of the breast. A correct diagnosis of metastasis to the breast is of considerable importance since the treatment of primary and secondary malignancies of the breast is different. We report 4 cases of extra mammary primary cancers metastasizing to the breast, diagnosed by biopsy, in a period of 5 years in our tertiary care centre. Each of the cases had different characteristics. A good knowledge of cytomorphology and histomorphology, together with clinical correlation and comparison with previous histopathological evidence, will prevent a misdiagnosis and aid in optimal management and therapy.
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Introduction. Les hémopathies malignes sont des proliférations anormales et anarchiques de cellules hématopoïétiques à point de départ médullaire ou périphérique. Notre étude qui avait pour objectif de faire le bilan de la prise en charge des hémopathies malignes au Centre national d'oncologie médical et de radiothérapie Alassane Ouattara. Méthodes. Il s'agissait d'une étude rétrospective descriptive d'une durée de 2 ans 3 mois allant du 1er janvier 2018 au 31 Mars 2020 portant sur 80 dossiers de malades porteurs d'hémopathies malignes et prise en charge dans le centre. Résultats. Notre étude a permis de recenser 2,2% d'hémopathies malignes sur les 3650 cas de pathologies cancéreuses recensées au CNRAO, soit une incidence 26,66 cas/an avec un sex-ratio 1,2. Les syndromes lymphoprolifératifs (SLP) sont les plus fréquents (96,25 %), sous trois principales formes: lymphomes malins non hodgkiniens (LMNH) non Burkitt (51,25%), leucémie myéloïde chronique (20%) et le myélome multiple (16,25%). Les LMNH représentent 51,25% des HM recensées avec 41,46 % de lymphomes de haut grade de malignité. La chimiothérapie était de mise chez tous nos patients. Ainsi sur 41 cas de LMNH, seulement 12 (29,27%) ont bénéficié du protocole R-CHOP. On notait 46,34% de réponse complète. Dans notre étude, le LH représentait 8,75% il était traité à 71,43% avec le protocole ABVD avec une réponse complète chez 6 patients. 37,5% des patients porteurs de leucémie myéloïde chronique ont reçu le Rituximab; ils ont été traités par les protocoles COP (31,25%), CHOP (31,25%), RCVP (12,5%) et R-CHOP (25%). La réponse thérapeutique était complète à 68,75%. Le protocole utilisé dans le traitement du myélome multiple a été le VMCD-REV à 76,92% avec pour réponse thérapeutique complète chez 6 patients, 3 réponses partielles et 4 en cours de traitement. Conclusion. Les SLP qui sont les plus fréquents des HM avec trois principales formes: LMNH non Burkitt, leucémie myéloïde chronique et myélome multiple. Nous avons cependant des difficultés quant à la mise en route de la chimiothérapie.
Introduction. Hematologic neoplasms are abnormal and anarchic proliferations of hematopoietic cells with a medullary or peripheral starting point. Our study aimed to report the management of hematological malignancies at the Centre National d'Oncologie Médicale et de Radiothérapie Alassane Ouattara (CNRAO). Methods. This was a descriptive retrospective study lasting 2 years 3 months from January 1st, 2018 to March 31st, 2020 concerning 80 patients with hematologic neoplasms who were managed in the CNRAO. Results. Hematologic neoplasms represented 2.2% of cancers (80/3650) at CNRAO, giving an annual incidence of 26.66 cases. The sex ratio was 1.2. Lymphoproliferative syndromes were the most common subgroups (96.25%). These were mainly non-Burkitt non Hodgkin lymphoma (51.25%), high grade lymphomas (41.46%), chronic lymphocytic lymphoma (20%) and multiple myeloma (16.25%). Chemotherapy was administered to all patients. Among 41 cases of non-Hodgkin lymphoma, 12 (29.27%) benefited from the R-CHOP protocol and full response was observed in 46.34% of them. We found 7 patients with Hodgkin lymphoma (8.75%) and the ABVD protocol was used for 6 cases (71.43%). Six out of these seven patients were in complete response. Among the 16 patients with chronic lymphocytic leukemia, 6 (37.5%) received Rituximab. The distribution of the patients with chronic lymphocytic leukemia was as follows: COP 31.25%, CHOP 31.25%, RCVP 12.5% and R-CHOP 25% and 68.75% had full response. The most common treatment protocol for multiple myeloma was VMCD-REV (76.92%). Six patients had complete response, 3 had partial response and 4 were in the course of treatment. Conclusion. In our practice, hematologic neoplasms are mainly lymphoproliferative syndromes and the most common varieties are non-Burkitt non Hodgkin lymphoma, high grade lymphomas, chronic lymphocytic lymphoma and multiple myeloma. We have difficulties in getting chemotherapy started.
Тема - темы
Humans , Male , Female , Hematologic Neoplasms , Disease Management , Lymphoma , Lymphoma, Non-Hodgkin , Hematologic DiseasesРеферат
Contexte et objectif. Les hémopathies malignes (HM) constituent un problème majeur de santé publique en Afrique sub-saharienne où les moyens de prise en charge sont limités. L'objectif de l'étude était de décrire les aspects diagnostiques, thérapeutiques et évolutifs observées dans la prise en charge des HM en milieu hospitalier de Kinshasa. Méthodes. Etude observationnelle historique de type suivi des cas d'HM hospitalisés, dans formations sanitaires de Kinshasa entre les 1er janvier 2011 et 31 décembre 2021. Seuls les patients âgés de plus de 18 ans ont été inclus. Les paramètres d'intérêt étaient englobés les données sociodémographiques, cliniques, biologiques, d'imagerie, du myélogramme, de l'analyse histopathologique des pièces biopsiques ganglionnaires ou extra ganglionnaires, le type de chimiothérapie et de la survie à 6 mois. Les tests de chi-carré et de Student ont comparé respectivement les proportions et les moyennes. L'analyse de Kaplan Meier et la régression de Cox ont respectivement décrit la survie et recherché les facteurs associés à la mortalité à 6 mois. Résultats.Sur 2678 patients suspects d'HM, seuls de 250 patients (9,3%, âge moyen 47,6 ± 15,8 ans, 62,4% d'hommes) ont eu un bilan de confirmation. Les adénopathies périphériques (54 %), la fièvre au long cours (48 %) et la poly transfusion (29 %) étaient les principaux motifs de consultation. Les perturbations hématologiques rencontrées étaient l'anémie (72 %), la thrombopénie (50 %), l'hyperleucocytose ( 0 %) et la leucopénie ( 0 %). Les syndromes lymphoproliferatif (68 %) étaient plus fréquents et répartis en lymphomes non hodgkiniens (50 %), Lymphome hodgkinien (27%) et myélome multiple (15 %). Les leucémies aigues venaient en deuxième position (12 %) suivi des syndromes myélodysplasiques (11 %) et des syndromes myéloprolifératifs (8 %). 61 % des patients ont bénéficié de la chimiothérapie. Durant les 6 premiers mois de prise en charge, la létalité globale était de 58,4 %. Conclusion. En milieu hospitalier de Kinshasa, très peu de patients suspects d'HM bénéficient d'une mise au point complète et de la chimiothérapie. Les adultes jeunes, surtout les hommes, sont très affectés et plus de la moitié d'entre eux décèdent endéans 6 mois. L'amélioration de l'accessibilité à la chimiothérapie et du plateau technique permettra une réduction de la létalité.
Тема - темы
Public Health , Hematologic Neoplasms , Drug Therapy , Therapeutics , Lymphoproliferative DisordersРеферат
Abstract Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.
Resumo As neoplasias hematológicas e de células hematopoiéticas dos genes e as células hematopoiéticas estão associadas à mutação genética, geralmente em nível cromossômico. O estudo citogenético padrão é amplamente aceito como um dos principais determinantes diagnósticos e prognósticos em pacientes. Portanto, o presente estudo descritivo e transversal buscou determinar a análise citogenética de neoplasias hematológicas frequentes no Paquistão. Um total de 202 amostras de medula óssea periférica ou sangue de pacientes com malignidade hematológica benigna e maligna foi coletado usando uma técnica convencional de banda G. Entre os pacientes inscritos, a média de idade foi de 21,5 anos ± 23,4, e a distribuição por gênero mostrou uma marcada predominância da população masculina de 147 (73%) em comparação com a feminina de 55 (27%). Pacientes na faixa etária (2-10 anos) tiveram a maior frequência, 48 (24%), de neoplasias hematológicas, seguida da idade (11-20 anos) com 40 (20%). Cariótipos normais (46, XX / 46, XY) foram encontrados em 51% (n = 103) dos pacientes. Além disso, a frequência de cariótipo complexo foi de 30 (15%), enquanto normal foi observada em 171 (85%) pacientes. Leucemia linfoblástica aguda pré-B (LLA Pré-B) foi a doença maligna mais prevalente de 66 (33%), seguida por leucemia mieloide crônica (LMC) de 41 (20%) e leucemia linfocítica aguda de 29 (14%). A translocação foi o 50 mais prevalente (25%), seguido por hipotriploidia 14 (7%) e monossomia 8 (4%) na análise de aberração cromossômica. Além disso, a translocação t (9:22) encontrada foi de 20 (10%) na LMC, com a maioria na faixa etária (31-40 anos). Este estudo recomenda que o cariótipo deve ser testado com frequência em condições hematológicas porque pode fornecer informações sobre as alterações cromossômicas relativas associadas a doenças malignas específicas.
Тема - темы
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Young Adult , Chromosome Aberrations , Hematologic Neoplasms/genetics , Hematologic Neoplasms/epidemiology , Pakistan/epidemiology , Cross-Sectional Studies , KaryotypingРеферат
Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.
As neoplasias hematológicas e de células hematopoiéticas dos genes e as células hematopoiéticas estão associadas à mutação genética, geralmente em nível cromossômico. O estudo citogenético padrão é amplamente aceito como um dos principais determinantes diagnósticos e prognósticos em pacientes. Portanto, o presente estudo descritivo e transversal buscou determinar a análise citogenética de neoplasias hematológicas frequentes no Paquistão. Um total de 202 amostras de medula óssea periférica ou sangue de pacientes com malignidade hematológica benigna e maligna foi coletado usando uma técnica convencional de banda G. Entre os pacientes inscritos, a média de idade foi de 21,5 anos ± 23,4, e a distribuição por gênero mostrou uma marcada predominância da população masculina de 147 (73%) em comparação com a feminina de 55 (27%). Pacientes na faixa etária (2-10 anos) tiveram a maior frequência, 48 (24%), de neoplasias hematológicas, seguida da idade (11-20 anos) com 40 (20%). Cariótipos normais (46, XX / 46, XY) foram encontrados em 51% (n = 103) dos pacientes. Além disso, a frequência de cariótipo complexo foi de 30 (15%), enquanto normal foi observada em 171 (85%) pacientes. Leucemia linfoblástica aguda pré-B (LLA Pré-B) foi a doença maligna mais prevalente de 66 (33%), seguida por leucemia mieloide crônica (LMC) de 41 (20%) e leucemia linfocítica aguda de 29 (14%). A translocação foi o 50 mais prevalente (25%), seguido por hipotriploidia 14 (7%) e monossomia 8 (4%) na análise de aberração cromossômica. Além disso, a translocação t (9:22) encontrada foi de 20 (10%) na LMC, com a maioria na faixa etária (31-40 anos). Este estudo recomenda que o cariótipo deve ser testado com frequência em condições hematológicas porque pode fornecer informações sobre as alterações cromossômicas relativas associadas a doenças malignas específicas.
Тема - темы
Male , Female , Humans , Cytogenetic Analysis/methods , Hematologic Neoplasms/genetics , Hematologic Neoplasms/bloodРеферат
Abstract Hematological and hematopoietic cells malignancies of the genes and hematopoietic cells are associated with the genetic mutation, often at the chromosomal level. The standard cytogenetic study is widely accepted as one of the main diagnostics and prognostic determinants in patients. Therefore, the current descriptive and cross-sectional study sought to determine the cytogenetic analysis of frequent hematological malignancies in Pakistan. A total of 202 peripheral bone marrow or blood samples from patients with benign and malignant hematological malignancy were taken using a conventional G-banding technique. Among enrolled patients, the mean age was 21.5 years ± 23.4, and gender-wise distribution showed a marked predominance of the male 147 (73%) population compared to the female 55 (27%). Patients in the age group (2-10 years) had the highest frequency, 48 (24%), of hematological neoplasms, followed by age (11-20 years) with 40 (20%). Normal karyotypes (46, XX/46, XY) was found in 51% (n=103) patients. Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. Pre-B Acute Lymphoblastic Leukemia (Pre-B ALL) was the most prevalent malignancy of 66 (33%), followed by Chronic Myelogenous Leukemia (CML) of 41 (20%) and Acute Lymphocytic Leukemia of 29 (14%). Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. In addition, t(9:22) translocation was found to be 20 (10%) in CML, with the majority in the age group (31-40 years). This study recommends that karyotyping should be tested frequently in hematological conditions because it may provide insight into the relative chromosomal changes associated with particular malignancies.
Resumo As neoplasias hematológicas e de células hematopoiéticas dos genes e as células hematopoiéticas estão associadas à mutação genética, geralmente em nível cromossômico. O estudo citogenético padrão é amplamente aceito como um dos principais determinantes diagnósticos e prognósticos em pacientes. Portanto, o presente estudo descritivo e transversal buscou determinar a análise citogenética de neoplasias hematológicas frequentes no Paquistão. Um total de 202 amostras de medula óssea periférica ou sangue de pacientes com malignidade hematológica benigna e maligna foi coletado usando uma técnica convencional de banda G. Entre os pacientes inscritos, a média de idade foi de 21,5 anos ± 23,4, e a distribuição por gênero mostrou uma marcada predominância da população masculina de 147 (73%) em comparação com a feminina de 55 (27%). Pacientes na faixa etária (2-10 anos) tiveram a maior frequência, 48 (24%), de neoplasias hematológicas, seguida da idade (11-20 anos) com 40 (20%). Cariótipos normais (46, XX / 46, XY) foram encontrados em 51% (n = 103) dos pacientes. Além disso, a frequência de cariótipo complexo foi de 30 (15%), enquanto normal foi observada em 171 (85%) pacientes. Leucemia linfoblástica aguda pré-B (LLA Pré-B) foi a doença maligna mais prevalente de 66 (33%), seguida por leucemia mieloide crônica (LMC) de 41 (20%) e leucemia linfocítica aguda de 29 (14%). A translocação foi o 50 mais prevalente (25%), seguido por hipotriploidia 14 (7%) e monossomia 8 (4%) na análise de aberração cromossômica. Além disso, a translocação t (9:22) encontrada foi de 20 (10%) na LMC, com a maioria na faixa etária (31-40 anos). Este estudo recomenda que o cariótipo deve ser testado com frequência em condições hematológicas porque pode fornecer informações sobre as alterações cromossômicas relativas associadas a doenças malignas específicas.
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@#Abstract: Objective To investigate the epidemiological characteristics of pathogens causing bloodstream infection in hematology patients during treatment and to compare the effects of allogeneic hematopoietic stem cell transplantation (HSCT) on them, so as to provide evidence for the diagnosis and treatment of bloodstream infection. Methods A total of 292 cases with bloodstream infection in hematology wards of the PLA General Hospital were collected from 2017 to 2021, which were divided into HSCT group and N-HSCT group according to whether performed HSCT or not. The epidemiological characteristics and influence of pathogenic bacteria in blood stream infection were analyzed and compared between the two groups. Results A total of 362 strains of pathogenic bacteria were collected from 292 cases, including 106 strains in HSCT group (84 cases) and 256 strains in N-HSCT group (208 cases). Bloodstream infections were more common in acute myeloid leukemia (130/392, 44.52%), followed by non-Hodgkin's lymphoma (74/292, 25.34%). The rate of once bloodstream infection in HSCT group was higher than that in N-HSCT Group, but the rate of twice bloodstream infections in N-HSCT group was higher. Gram-negative Bacilli were the most common pathogens (56.08%), with Escherichia coli being absolutely dominant (109/362, 30.11%), followed by Klebsiella pneumoniae (39/362, 10.77%). Coagulase-negative staphylococci (CoNS) (107/362, 29.56%) were the most common Gram-positive cocci. The detection rate of fungi in HSCT group (10/106, 9.43%) was significantly higher than that in N-HSCT Group (3.52%). The drug resistance rate of the common pathogenic bacteria was at a high level, and there was a certain proportion of multi-drug resistant strains (except for Pseudomonas aeruginosa). The resistance rates of CoNS to penicillin, gentamicin, moxifloxacin, clindamycin and rifampicin in HSCT group were higher than those in N-HSCT Group. The resistance rate of Escherichia coli to piperacillin/tazobactam, cephalosporins and etapenem in HSCT group was significantly higher than that in N-HSCT group. Conclusions The pathogens of blood stream infection in hematology patients are complicated and various. It is difficult for clinical diagnosis and treatment to detect multiple infections and multiple pathogens. HSCT patients have a higher risk of fungal bloodstream infection and more multi-drug resistant strains detected. Therefore, the identification of bloodstream infection and multi-drug resistant strains associated with HSCT patients should prompt surveillance.
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Objective: To study the incidence of bloodstream infections, pathogen distribution, and antibiotic resistance profile in patients with hematological malignancies. Methods: From January 2018 to December 2021, we retrospectively analyzed the clinical characteristics, pathogen distribution, and antibiotic resistance profiles of patients with malignant hematological diseases and bloodstream infections in the Department of Hematology, Nanfang Hospital, Southern Medical University. Results: A total of 582 incidences of bloodstream infections occurred in 22,717 inpatients. From 2018 to 2021, the incidence rates of bloodstream infections were 2.79%, 2.99%, 2.79%, and 2.02%, respectively. Five hundred ninety-nine types of bacteria were recovered from blood cultures, with 487 (81.3%) gram-negative bacteria, such as Klebsiella pneumonia, Escherichia coli, and Pseudomonas aeruginosa. Eighty-one (13.5%) were gram-positive bacteria, primarily Staphylococcus aureus, Staphylococcus epidermidis, and Enterococcus faecium, whereas the remaining 31 (5.2%) were fungi. Enterobacteriaceae resistance to carbapenems, piperacillin/tazobactam, cefoperazone sodium/sulbactam, and tigecycline were 11.0%, 15.3%, 15.4%, and 3.3%, with a descending trend year on year. Non-fermenters tolerated piperacillin/tazobactam, cefoperazone sodium/sulbactam, and quinolones at 29.6%, 13.3%, and 21.7%, respectively. However, only two gram-positive bacteria isolates were shown to be resistant to glycopeptide antibiotics. Conclusions: Bloodstream pathogens in hematological malignancies were broadly dispersed, most of which were gram-negative bacteria. Antibiotic resistance rates vary greatly between species. Our research serves as a valuable resource for the selection of empirical antibiotics.
Тема - темы
Humans , Bacteremia/epidemiology , Cefoperazone , Sulbactam , Retrospective Studies , Drug Resistance, Bacterial , Microbial Sensitivity Tests , Hematologic Neoplasms , Sepsis , Anti-Bacterial Agents/pharmacology , Gram-Negative Bacteria , Gram-Positive Bacteria , Piperacillin, Tazobactam Drug Combination , Escherichia coliРеферат
Proteolysis-targeting chimeras (PROTACs) are heterobifunctional small molecules by utilizing the ubiquitin proteasome system (UPS) to degrade proteins of interest. PROTACs have exhibited unprecedented efficacy and specificity in degrading various oncogenic proteins because of their unique mechanism of action, ability to target "undruggable" and mutant proteins. A series of PROTACs have been developed to degrade multiple key protein targets for the treatment of hematologic malignancy. Notably, PROTACs that target BCL-XL, IRAK4, STAT3 and BTK have entered clinical trials. The known PROTACs that have the potential to be used to treat various hematological malignancies are systematically summarized in this review.
Тема - темы
Humans , Hematologic Neoplasms/drug therapy , Proteasome Endopeptidase Complex/metabolism , Ubiquitin-Protein Ligases/metabolism , Proteolysis Targeting ChimeraРеферат
OBJECTIVE@#To detect the gene mutations in patients with myeloid malignancies by high-throughput sequencing and explore the correlation between gene mutations and prognosis.@*METHODS@#A retrospective analysis was performed on 56 patients with myeloid malignancies who were hospitalized in the department of hematology, Peking University International Hospital from January 2020 to May 2021. The genetic mutations of the patients were detected by next-generation sequencing technology, and the correlation between the genetic mutations and prognosis of myeloid malignancies was analyzed.@*RESULTS@#In 56 patients, the number of mutated genes detected in a single patient is 0-9, with a median of 3. Sequencing results showed that the most common mutated genes were RUNX1(21.4%), TET2(17.9%), DNMT3A(17.9%), TP53(14.3%) and ASXL1(14.3%), among which the most common mutations occurred in the signaling pathway-related genes (23.3%) and the transcription factor genes (18.3%). 84% of the patients carried multiple mutated genes (≥2), and correlation analysis showed there were obvious co-occurring mutations between WT1 and FLT3, NPM1 and FLT3-ITD, and MYC and FLT3. TP53 mutation was more common in MDS patients.The overall survival time of patients with NRAS mutation was significantly shortened (P =0.049). The prognosis of patients with TP53 mutation was poor compared with those without TP53 mutation, but the difference wasn't statistically significant (P =0.08).@*CONCLUSION@#The application of next-generation sequencing technology is of great significance in myeloid malignancies, which is helpful to better understand the pathogenesis of the disease, to judge the prognosis and to find possible therapeutic targets.
Тема - темы
Humans , Leukemia, Myeloid, Acute/genetics , Nucleophosmin , Prognosis , Retrospective Studies , High-Throughput Nucleotide Sequencing , Myeloproliferative Disorders , MutationРеферат
Objective:To analyze the diagnosis, treatment and prognosis of patients with rare malignant tumors of the temporal bone. Methods:Four cases of rare temporal bone malignant tumors in our hospital between March 2014 and December 2020 were reviewed, including two cases of chondrosarcoma, one case of fibrosarcoma and one case of endolymphatic cystic papillary adenocarcinoma. There were three males and one female, ages between 28 and 56 years at the time of surgery. Common symptoms included hearing loss, facioplegia, tinnitus, and headache. All patients underwent imaging examinations to evaluate the extent of the lesions. Tumors were removed by subtotal temporal bone resection or infratemporal fossa approach, and postoperative adjuvant radiotherapy was applied if necessary. Results:One of the two chondrosarcoma patients was cured by complete resection of the tumor for 75 months, the other one recurred after the first excision of the tumor and underwent infratemporal fossa approach resection of skull base mass again with no recurrence found yet for 112 months. One patient with fibrosarcoma survived for 28 months after surgery with a positive margin and post-operative radiotherapy. One patient with endolymphatic cystic papillary adenocarcinoma recurred 12 months after subtotal lithotomy, and underwent subtotal temporal bone resection again, combined with radiotherapy. No recurrence was found for 63 months. Conclusion:The incidence of rare temporal bone malignant tumors is extremely low, the location is hidden, and the symptoms are atypical. Attention should be paid for early detection and early treatment. Surgical resection is the main treatment, and radiotherapy can be supplemented in the advanced stage or with a positive margin.
Тема - темы
Adult , Female , Humans , Male , Middle Aged , Chondrosarcoma/surgery , Fibrosarcoma , Neoplasm Recurrence, Local , Retrospective Studies , Skull Base/surgery , Skull Base Neoplasms/surgery , Temporal Bone/pathology , Treatment OutcomeРеферат
Most hematological tumors have high-grade malignancy and low cure rate, requiring new molecular markers for detection and evaluation. Circular RNAs (circRNAs) are a class of non-coding RNAs with covalently closed-loop structures, which participate in gene transcription and translation by binding to microRNAs and proteins. In recent years, with the deepening research on circRNAs, circRNAs have been found to play an important role in hematological malignancies. In this review, the latest research progress on the function and molecular mechanism of circRNAs in hematological malignancies was systematically summarized, and it was found that circRNAs may be potential new biomarkers and therapeutic targets in hematological malignancies.
Тема - темы
Humans , RNA, Circular , MicroRNAs/genetics , Neoplasms , Hematologic Neoplasms/genetics , BiomarkersРеферат
OBJECTIVE@#To explore the clinical characteristics and prognosis of multiple myeloma(MM) patients with secondary primary malignancies.@*METHODS@#The clinical data of newly diagnosed MM patients admitted to the First Affiliated Hospital of Zhengzhou University from January 2011 to December 2019 were retrospectively analyzed. The patients with secondary primary malignancies were retrieved, and their clinical features and prognosis were evaluated.@*RESULTS@#A total of 1 935 patients with newly diagnosed MM were admitted in this period, with a median age of 62 (18-94) years old, of which 1 049 cases were hospitalized twice or more. There were eleven cases with secondary primary malignancies (the incidence rate was 1.05%), including three cases of hematological malignancies (2 cases of acute myelomonocytic leukemia and 1 case of acute promyelocytic leukemia) and eight cases of solid tumors (2 cases of lung adenocarcinoma, and 1 case each of endometrial cancer, esophageal squamous cell carcinoma, primary liver cancer, bladder cancer, cervical squamous cell carcinoma, and meningioma). The median age of onset was 57 years old. The median time between diagnosis of secondary primary malignancies and diagnosis of MM was 39.4 months. There were seven cases with primary or secondary plasma cell leukemia, the incidence rate was 0.67%, and the median age of onset was 52 years old. Compared with the randomized control group, the β2-microglobulin level in the secondary primary malignancies group was lower (P=0.028), and more patients were in stage I/II of ISS (P=0.029). Among the 11 patients with secondary primary malignancies, one survived, ten died, and the median survival time was 40 months. The median survival time of MM patients after the secondary primary malignancies was only seven months. All seven patients with primary or secondary plasma cell leukemia died, with a median survival time of 14 months. The median overall survival time of MM patients with secondary primary malignancies was longer than that of the patients with plasma cell leukemia (P=0.027).@*CONCLUSION@#The incidence rate of MM with secondary primary malignancies is 1.05%. MM patients with secondary primary malignancies have poor prognosis and short median survival time, but the median survival time is longer than that of patients with plasma cell leukemia.