Résumé
OBJECTIVE@#To explore the value of multiple detection methods based on histopathology and supplemented by bone marrow or peripheral blood sample detections in the comprehensive diagnosis of mantle cell lymphoma (MCL).@*METHODS@#The clinical, immunophenotypic, pathologic, cytogenetic and molecular features of 153 newly diagnosed MCL patients admitted to the hematology department of our hospital from May 2009 to September 2022 were analyzed.@*RESULTS@#144 (96.6%) of the 149 MCL patients who underwent marrow or peripheral blood IGH/CCND1 FISH detection at initial diagnosis were positive, of which 36 cases (24.2%) had a low proportion positive. The immunophenotypes in 115 patients were analyzed by flow cytometry (FCM), 89 cases (77.4%) conformed to MCL while 23 cases (20.0%) were initially diagnosed as B-cell lymphoproliferative disorders (B-LPD). Of the 75 cases who performed bone marrow biopsy, 50 cases (66.7%) had morphological and immunophenotypic characteristics consistent with MCL, 15 cases (20.0%) were classified as B-LPD, and 10 cases with no obvious abnormality. 77 patients underwent histopathology examination, of which 73 cases (94.8%) had typical clinicopathological features of MCL, including 2 CCND1 negative MCL, 2 pleomorphic variants, 5 pleomorphic variants and 4 cases diagnosed as other leukemia or lymphoma. Among 153 cases of MCL, 128 cases were classic MCL(cMCL), and another 25 cases (16.3%) were diagnosed as leukemic non-lymph node MCL (lnnMCL). The incidence of IGHV mutation, TP53 mutation and CD23 expression positive were significantly different between cMCL and lnnMCL.@*CONCLUSION@#Histopathology is still the main standard for the diagnosis of cMCL, and detection based on bone marrow or peripheral blood samples is an important means for the diagnosis of lnnMCL. Single marker or examination can cause a certain proportion of misdiagnosis. The accurate diagnosis of MCL depends on a combination of multiple detection methods.
Sujets)
Adulte , Humains , Lymphome à cellules du manteau/génétique , Moelle osseuse/anatomopathologie , Leucémies/anatomopathologie , Mutation , ImmunophénotypageRésumé
OBJECTIVE@#To explore the clinical characteristics, treatment, and prognosis of patients with blastic plasmacytoid dendritic cell neoplasm(BPDCN).@*METHODS@#Clinical data of 5 patients diagnosed with BPDCN in Wuhan First Hospital and Wuhan Tongji Hospital from June 2016 to November 2021 were retrospectively analyzed.@*RESULTS@#Among the 5 patients, 3 were male and 2 were female, with a median age of 28(10-52) years old. Four patients showed obvious skin damage at the initial diagnosis; the other one showed clinical manifestations of acute leukemia rather than obvious skin damage at the initial diagnosis, but infiltrated skin when the disease relapsed after treatment. Other infiltration sites of lesions included bone marrow (2/5), peripheral blood (2/5), lymph nodes (3/5), liver and spleen (2/5). All patients had no clinical manifestation of central nervous system infiltration. Tumor cell specific immune markers CD4, CD56, CD123 were all positive, and the median Ki-67 index was 70%. TET2, ASXL1 and NRAS gene mutations were found respectively in 3 patients by next-generation sequencing technique (NGS). ALL-like, AML-like and invasive NK/T cell lymphoma-like first-line induction chemotherapy regimens were used for the patients. One patient died of severe complications during the early stage of chemotherapy, 3 patients were evaluated as CR, and 1 patient was evaluated as PR. 2 patients were recurred and progressed after induction of chemotherapy, and one of them was evaluated as CR after re-treatment. One patient received autologous hematopoietic stem cell transplantation (auto-HSCT) and got long-term survival (OS 87 months). 3 patients received allogeneic hematopoietic stem cell transplantation (allo-HSCT), of which one died of transplantation related complications, and 2 cases survived. The median follow-up time of 4 patients with evaluable efficacy was 28.5(9-84) months, the median OS time was 31.5(10-87) months.@*CONCLUSION@#BPDCN is a highly heterogeneous malignant tumor with a poor prognosis. HSCT, especially allo-HSCT can significantly improve the prognosis of BPDCN patients.
Sujets)
Humains , Mâle , Femelle , Adulte , Adulte d'âge moyen , Études rétrospectives , Leucémies/anatomopathologie , Transplantation de cellules souches hématopoïétiques , Pronostic , Syndromes myéloprolifératifs , Tumeurs cutanées/anatomopathologie , Maladie aigüe , Cellules dendritiquesRésumé
Resumen Introducción: Las neoplasias de células natural killer (NK) son poco frecuentes y representan <5% de todas las neoplasias linfoides. Comprometen diferentes entidades clínicas, como la leucemia de células NK, que es una neoplasia hematológica altamente agresiva con un pronóstico precario, que se presenta en hombres jóvenes y se observa con mayor frecuencia en ascendencia asiática. El virus de Epstein-Barr (VEB) parece estar relacionado con la patogenia de esta leucemia. Caso clínico: Se presenta el caso de un paciente de sexo masculino de 1 año y 7 meses de edad, quien inició su padecimiento con síndrome anémico, febril, infiltrativo e hiperleucocitosis. En el aspirado de médula ósea se detectaron blastos de morfología L2 (96%), inmunofenotipo CD56 (80.87%) y desoxinucleotidil transferasa terminal (84.11%). En la biopsia de médula ósea se identificó CD2+ membranoso, CD3+ citoplásmico y CD56+ membranoso; la serología para VEB fue positiva. El paciente recibió dos esquemas diferentes de quimioterapia basados en metotrexato, ifosfamida, etopósido, dexametasona y L-asparaginasa, y se documentó remisión parcial. Actualmente, se encuentra vivo con la enfermedad. Conclusiones: La leucemia de células NK es rara en adultos jóvenes, pero aún más en pacientes en edad pediátrica. Además, es de muy difícil tratamiento, ya que solo se cuenta con algunos reportes de casos, la sobrevida es de semanas a meses y las oportunidades de tratamiento se limitan. Recientemente, se ha evidenciado la utilidad del trasplante de médula ósea alogénico o células de cordón umbilical, y se ha logrado una sobrevida a 2 años. Las posibilidades terapéuticas en estos pacientes se encuentran en estudio. Se espera lograr en un futuro cercano la remisión completa y sobrevida a 5 años.
Abstract Background: Natural killer (NK) cell neoplasms are rare and represent <5% of all lymphoid neoplasms. They involve different clinical entities, of which one is NK cell leukemia, a highly aggressive hematologic neoplasm with poor prognosis that presents in young men and is more frequently seen in Asian descent. Epstein-Barr virus (EBV) seems to be related to the pathogenesis. Case report: A male patient of 1 year and 7 months of age, who began his condition with anemic, febrile, infiltrative syndrome and hyperleukocytosis is described. Bone marrow aspirate showed L2 morphology blasts (96%), CD56 (80.87%) and terminal deoxynucleotidyl transferase (84.11%) immunophenotype. Bone marrow biopsy showed membranous CD2+, cytoplasmic CD3+ and membranous CD56+; serology positive to EBV. The patient received two different chemotherapy schemes based on methotrexate, ifosfamide, etoposide, dexamethasone and L-asparaginase, which resulted in partial remission. Currently, the patient lives with the disease. Conclusions: NK cells leukemia is rare in young adults, but even more in pediatric patients, for which it is very difficult to treat because only a few cases have been reported in the literature, the survival varies from weeks to months and the chances of treatment are limited. Recently, the usefulness of allogeneic bone marrow transplantation or umbilical cord cells has been demonstrated, achieving a 2-year survival. The therapeutic possibilities in these patients are under study. In the near future, we hope to achieve the complete remission of the disease and a 5-year survival.
Sujets)
Humains , Nourrisson , Mâle , Cellules tueuses naturelles/métabolisme , Leucémies/traitement médicamenteux , Protocoles de polychimiothérapie antinéoplasique/administration et posologie , Induction de rémission , Leucémies/diagnostic , Leucémies/anatomopathologie , Herpèsvirus humain de type 4/isolement et purificationRésumé
ABSTRACT When the FLT3 gene is mutated, it originates a modified receptor with structural changes, which give survival advantage and malignant hematopoietic cell proliferation. Thus, the presence of mutations in this gene is considered an unfavorable prognostic factor. A total of 85 consecutive samples of newly diagnosed untreated patients with AL were included in the study after they provided their informed consent. FLT3 gene mutations were detected by PCR. For the pediatric group, a positive correlation was observed between WBC count and the presence of FLT3-ITD in patients with AML and ALL. Furthermore, children with AML who had the FLT3-ITD mutation showed a tendency to express CD34 in blast cells. In the adult group, the AML patients with FLT3-ITD who expressed CD34 in blast cells had a tendency to worse progression. The present data indicate no association between the prognostic factors evaluated and FLT3 gene mutations in adult with AL. Yet, the presence of FLT3-ITD mutation was significantly related with WBC count in the pediatric group. These findings demonstrate that FLT3 gene mutations can be considered as independent poor prognostic factors.
Sujets)
Humains , Mâle , Femelle , Enfant d'âge préscolaire , Enfant , Adolescent , Adulte , Adulte d'âge moyen , Sujet âgé , Sujet âgé de 80 ans ou plus , Patients/statistiques et données numériques , Leucémies/anatomopathologie , Adulte , Gènes/génétique , Mutation/génétique , Pronostic , Enfant , Réaction de polymérisation en chaîne/instrumentationRésumé
Objective: Peritraumatic reactions feature prominently among the main predictors for development of posttraumatic stress disorder (PTSD). Peritraumatic tonic immobility (PTI), a less investigated but equally important type of peritraumatic response, has been recently attracting the attention of researchers and clinicians for its close association with traumatic reactions and PTSD. Our objective was to investigate the role of PTI, peritraumatic panic, and dissociation as predictors of PTSD symptoms in a cohort of police recruits (n=132). Methods: Participants were asked to complete the following questionnaires during academy training and after the first year of work: Posttraumatic Stress Disorder Checklist - Civilian Version (PCL-C), Physical Reactions Subscale (PRS), Peritraumatic Dissociative Experiences Questionnaire (PDEQ), Tonic Immobility Scale (TIS), and Critical Incident History Questionnaire. Results: Employing a zero-inflated negative binomial regression model, we found that each additional point in the TIS was associated with a 9% increment in PCL-C mean scores (RM = 1.09), whereas for PRS, the increment was 7% (RM = 1.07). As the severity of peritraumatic dissociation increased one point in the PDEQ, the chance of having at least one symptom in the PCL-C increased 22% (OR = 1.22). Conclusions: Our findings highlight the need to expand investigation on the incidence and impact of PTI on the mental health of police officers. .
Sujets)
Animaux , Humains , Souris , Protéines chromosomiques nonhistones/physiologie , Leucémies/anatomopathologie , Protéine de la leucémie myéloïde-lymphoïde/génétique , Cellules souches tumorales/anatomopathologie , Oncogènes , Protéines de répression/physiologie , Apoptose , Protéines chromosomiques nonhistones/génétique , Cytométrie en flux , Leucémies/génétique , Leucémies/métabolisme , Réaction de polymérisation en chaîne , Protéines de répression/génétiqueRésumé
PURPOSE: The purpose of this study was to identify the level of distress and posttraumatic growth in fathers of chronically ill children and also, to identify the relation between characteristics of the fathers and children and their posttraumatic growth and to investigate factors that influence posttraumatic growth. METHODS: In this study, 48 fathers who visited a university hospital in Seoul, Korea and who gave written consent completed the questionnaire between September 23 and November 19, 2013. Data were analyzed using Mann-Whitney U test, Kruskal-Wallis test, Pearson correlation coefficient and stepwise multiple regression. RESULTS: The level of distress in fathers of chronically ill children was relatively high and the majority of them were experiencing posttraumatic growth. Models including the variable (deliberate rumination, religiousness, optimism) explained 64.3% (F=26.38, p <.001) of the variance for posttraumatic growth. Deliberate rumination (beta=.59, p <.001) was the most influential factor. CONCLUSION: The findings demonstrate that it is essential for nurses to intervene and facilitate continuously so as to promote posttraumatic growth and relieve distress in fathers of chronically ill children. Furthermore, it is also necessary for nurses to find ways to develop ideal interventions to activate deliberate rumination and offer spiritual care and help maintain optimism in these individuals.
Sujets)
Adulte , Enfant , Femelle , Humains , Mâle , Adaptation psychologique , Maladie chronique , Pères/psychologie , Hôpitaux universitaires , Leucémies/anatomopathologie , Tumeurs/anatomopathologie , Optimisme , Analyse de régression , Soutien social , Enquêtes et questionnairesRésumé
Blastic plasmacytoid dendritic cell neoplasm is a rare and aggressive hematodermic neoplasia with frequent cutaneous involvement and leukemic dissemination. We report the case of a 76-year-old man with a 2 month history of violaceous nodules and a tumor with stony consistency, located on the head, and mandibular, cervical and supraclavicular lymphadenopathies. Multiple thoracic and abdominal adenopathies were identified on computerized tomography. Flow cytometry analysis of the skin, lymph node and bone marrow biopsies demonstrated the presence of plasmocytoid dendritic cell neoplastic precursor cells (CD4+, CD45+, CD56+ and CD123+ phenotype). After initial clinical and laboratorial complete remission with chemotherapy, the patient died due to relapse of the disease associated with the appearance of a cervical mass with medullary compromise.
A neoplasia blástica de células dendríticas plasmocitóides é uma neoplasia hematodérmica rara, agressiva, com frequente envolvimento cutâneo e disseminação leucêmica. Relatamos o caso de um homem de 76 anos com quadro clínico com 2 meses de evolução caracterizado por nódulos e tumor de tonalidade violácea, de consistência pétrea, localizados na cabeça, e linfadenopatias mandibular, cervicais e supraclaviculares. Identificaram-se múltiplas adenopatias torácicas e abdominais em tomografia computorizada. A análise por citometria de fluxo de biópsias cutânea, ganglionar e óssea demonstrou a presença de precursores neoplásicos das células dendríticas plasmocitóides (fenótipo CD4+, CD45+, CD56+ e CD123+). Após remissão clínica e laboratorial completa inicial com quimioterapia, veio a falecer por recaída da doença associada ao aparecimento de massa cervical com compromisso medular.
Sujets)
Sujet âgé , Humains , Mâle , Cellules dendritiques/anatomopathologie , Leucémies/anatomopathologie , Tumeurs cutanées/anatomopathologie , Biopsie , Moelle osseuse/anatomopathologie , Issue fatale , Cytométrie en flux , Invasion tumorale , Peau/anatomopathologieSujets)
Cellules sanguines , Moelle osseuse/anatomopathologie , Enfant , Techniques cytologiques , Diagnostic différentiel , Cytométrie en flux , Humains , Immunophénotypage , Leucémies/diagnostic , Leucémies/anatomopathologie , Mâle , Microscopie , Neuroblastome/diagnostic , Neuroblastome/anatomopathologie , Test des rosettesRésumé
La leucemia cutis se define como la infiltración de células leucémicas a nivel de la piel. Constituye un signo de enfermedad diseminada y en ocasiones es un marcador de recidiva. Su presentación clínica es variable y comprende desde pequeñas pápulas hasta grandes nódulos o tumores. Por lo general las lesiones aparecen en forma posterior al compromiso de sangre periférica. La leucemia cutis se observa con mayor frecuencia en las leucemias monocíticas o mielomonocíticas, y su presencia implica un signo de mal pronóstico. Se presentan tres casos de pacientes con diagnóstico de leucemia mieloide aguda, síndrome mielodisplásico y leucemia mieloide crónica, que presentaron leucemias cutáneas diagnosticadas por histolopatología e inmunohistoquímica.
Sujets)
Humains , Mâle , Adulte , Sujet âgé , Leucémies/anatomopathologie , Peau/anatomopathologie , Infiltration leucémique , Leucémie myéloïde chronique BCR-ABL positive/complications , Leucémie aigüe myéloïde/complications , PronosticRésumé
La leucemia de células dendríticas son patologías poco frecuentes, que involucran fundamentalmente a la piel, pero con una alta tendencia de metástasis. La inmunohistoquímica es una herramienta valiosa junto con la biopsia para el diagnóstico definitivo. Se presenta el caso de una paciente joven, quien acudió por presentar una lesión en la pierna izquierda de dimensiones y características únicas, cuyo diagnóstico requirió de la utilización de marcadores monoclonales específicos en la identificación de esta entidad.
The dendritic cell leukemias are pathologies very uncommon which involve mainly the skin, but with a high tendency of metastasis. The flow cytometric is a valuable tool together with tissue biopsy for a definitive diagnosis. We present the case of a young female who complained for a left leg lesion with unique dimensions and characteristics, in where the diagnostic process required the use of the specific monoclonal markers in the identification of this particular disease.
Sujets)
Humains , Femelle , Adulte , Antigènes de différenciation/analyse , Cellules dendritiques/physiologie , Cellules dendritiques/anatomopathologie , Leucémies/anatomopathologie , Leucémies/traitement médicamenteux , Traumatismes de la jambe , Lymphome T cutané/anatomopathologie , Trouble lié au tabagisme/effets indésirables , Ulcère cutané/anatomopathologie , Ulcère cutané/thérapieRésumé
El paciente con enfermedades oncológicas tiene un alto riesgo para desarrollar infecciones respiratorias, y neumonía por Pneumocystis jirovecii. En Venezuela existen pocos estudios sobre la neumocistosis en pacientes oncológicos. El objetivo de este trabajo fue detectar la presencia de Pneumocystis jirovecii en pacientes oncológicos a través de la técnica de inmunofluorescencia directa. Se recibieron, durante 10 meses, 31 muestras respiratorias (lavado broncoalveolar, esputo espontáneo e inducido, aspirados traqueales), de ellas 8 (25,5 por ciento) resultaron positivas. La distribución por tipo de cáncer fue la siguiente: 18 tumores sólidos y 13 leucemias y linfomas. La positividad entre los grupos estudiados no fue estadísticamente significativa (P>0,05). Los exámenes de laboratorio complementarios, relacionados tampoco fueron estadísticamente significativos (P>0,05). Es necesario incluir este diagnóstico en estudio microbiológico diferencial de infecciones del tracto respiratorio inferior en pacientes con cáncer, estos pacientes cursan con una sintomatología general inespecífica y tendrán una alta posibilidad de desarrollar neumocistosis.
The patient with malignancy disease has a high risk to develop respiratory infections for Pneumocystis jirovecii pneumonia. Investigations about pneumocystosis in oncological patients in Venezuela are scarce. The objective of this work was to detect Pneumocystis jirovecii in oncological patients by the method of direct immunofluorescence technique. Thirty one respiratory specimens (bronchoalveolar lavage, spontaneous and induced sputum, and tracheal aspirates) received in 10 months, 8 specimens of them (25.5) were positive the distribution by malignancy disease was the following: 18 solid tumors, and 13 leukemias, and lymphomas. No statistically significant differences were found between the studied groups and positive results (P>0.05). The complementary laboratory tests, related to the presence of Pneumocystis, were not statistically significant either P>0.05). Is necessary to include this diagnosis in the microbiological differential study of low respiratory tract infections in oncological patients, since these patients show unspecific symptoms, and have a high possibility to develop pneumocystosis.
Sujets)
Humains , Mâle , Femelle , Adulte d'âge moyen , Leucémies/anatomopathologie , Lymphomes/anatomopathologie , Pneumonie à Pneumocystis/diagnostic , Pneumonie à Pneumocystis/étiologie , Pneumonie à Pneumocystis/anatomopathologie , Appareil respiratoire/anatomopathologie , Technique d'immunofluorescence directe/méthodes , Expectoration/virologie , Infections bactériennes/complications , Lavage bronchoalvéolaire/méthodesRésumé
OBJECTIVE: To investigate the significance of the dynamic contrast enhanced magnetic resonance imaging (DCE-MRI) parameters of diffuse spinal bone marrow infiltration in patients with hematological malignancies. MATERIALS AND METHODS: Dynamic gadolinium-enhanced MR imaging of the lumbar spine was performed in 26 patients with histologically proven diffuse bone marrow infiltration, including multiple myeloma (n = 6), acute lymphoblastic leukemia (n = 6), acute myeloid leukemia (n = 5), chronic myeloid leukemia (n = 7), and non-Hodgkin lymphoma (n = 2). Twenty subjects whose spinal MRI was normal, made up the control group. Peak enhancement percentage (Emax), enhancement slope (ES), and time to peak (TTP) were determined from a time-intensity curve (TIC) of lumbar vertebral bone marrow. A comparison between baseline and follow-up MR images and its histological correlation were evaluated in 10 patients. The infiltration grade of hematopoietic marrow with plasma cells was evaluated by a histological assessment of bone marrow. RESULTS: Differences in Emax, ES, and TTP values between the control group and the patients with diffuse bone marrow infiltration were significant (t = -11.51, -9.81 and 3.91, respectively, p 0.05). A positive correlation was found between Emax, ES values and the histological grade of bone marrow infiltration (r = 0.86 and 0.84 respectively, p < 0.01). A negative correlation was found between the TTP values and bone marrow infiltration histological grade (r = -0.54, p < 0.01). A decrease in the Emax and ES values was observed with increased TTP values after treatment in all of the 10 patients who responded to treatment (t = -7.92, -4.55, and 5.12, respectively, p < 0.01). CONCLUSION: DCE-MRI of spine can be a useful tool in detecting diffuse marrow infiltration of hematological malignancies, while its parameters including Emax, ES, and TTP can reflect the malignancies' histological grade.
Sujets)
Adolescent , Adulte , Sujet âgé , Enfant , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte , Tumeurs de la moelle osseuse/anatomopathologie , Produits de contraste , Acide gadopentétique , Tumeurs hématologiques/anatomopathologie , Amélioration d'image/méthodes , Leucémies/anatomopathologie , Syndromes lymphoprolifératifs/anatomopathologie , Imagerie par résonance magnétique/méthodes , Biais de l'observateur , Études prospectives , Tumeurs du rachis/anatomopathologieRésumé
In patients with known extramammary malignancies, Metastatic disease should be considered in the differential diagnosis of a palpable breast mass, particularly if there is a history of extramammary malignancy. Breast metastasis is usually indicative of diffuse metastatic disease and a poor prognosis. Biopsy and careful review of previous pathologic material assures prompt treatment and avoids an unnecessary radical operation. Breast metastases from extramammary tumors are rare with few cases reported. Four cases of metastasis to the breast are presented and the diagnostic problems of this condition are reviewed. Correlation between the histology of primary tumor and the cytology of breast metastatic tumors can avoid the surgical breast biopsy and unnecessary mastectomy. In conclusion, Metastasis to the breast has poor prognosis. We report a case of metastasis leukemia to breast presenting as a breast lump
Sujets)
Humains , Femelle , Leucémies/anatomopathologie , Mammographie , Leucémie myéloïde/anatomopathologieRésumé
Natural killer cell malignancy is a rare and aggressive lymphoid neoplasm encompassing extra-nodal NK/T-cell lymphoma, nasal-type (ENKLN) and aggressive NK-cell lymphoma/leukemia (ANKL). A case of cutaneous ENKLN and a case of ANKL in Thai patients are reported Both patients developed hemophagocytic syndrome and shortly succumbed to death. The cells in cutaneous ENKLN are small to medium in size with minimal cytoplasm, round nuclei, irregular nuclear membrane, andfine chromatin with inconspicuous nucleoli. While that of ANKL are medium to large-sized mononuclear cells with moderate cytoplasm. Their nuclei are elongated to embryo-like with irregularly thickened nuclear membrane, fine chromatin, and small to occasional prominent nucleolus. Ancillary techniques studied on paraffin embedded tissues of both cases demonstrated that the neoplastic cells exhibit cytoplasmic CD3+, CD56+ and cytotoxic granules + by immunohistochemistry, absence of T cell receptor gene rearrangement by PCR, and presence of Epstein-Barr virus mRNA (EBER) transcripts by in situ hybridization. The authors reviewed the literature on natural killer cell neoplasm and compared the clinical characteristics, natural history, and association of Epstein-Barr virus infection with hemophagocytic syndrome.
Sujets)
Adulte , Infections à virus Epstein-Barr/physiopathologie , Femelle , Humains , Cellules tueuses naturelles/anatomopathologie , Leucémies/anatomopathologie , Lymphohistiocytose hémophagocytaire/physiopathologie , Lymphomes/anatomopathologie , Facteurs de risqueRésumé
Se presenta un caso de leucemia cutis en una mujer de 18 años, sin diagnóstico previo de leucemia. Consulta por nódulos y pápulas eritemato-pruriginosas. Los estudios histopatológicos y de inmunohistoquímica confirman el diagnóstico. La Paciente recibió tratamiento quimioterápico con remisión de la enfermedad hematológica y desaparición de las lesiones cutáneas sin cicatrices; posteriormente se realizó transplante de médula ósea. Se destaca la buena evolución a cinco años del diagnóstico y se realiza una revisión de la literatura.
Sujets)
Humains , Adolescent , Femelle , Leucémies/diagnostic , Leucémies/anatomopathologie , Peau/anatomopathologie , ImmunohistochimieRésumé
Natural killer leukemia is a rare and highly aggressive neoplasm, is more common in young male patients and has a very poor prognosis, with a median survival of few weeks. We report a 17 years old male patient who developed, after an acute upper respiratory disease, a rapidly multiorganic failure with pancytopenia. Bone marrow aspiration and trephine biopsy showed an acute lymphoblastic leukemia. The immunophenotype and immunohistochemistry revealed a natural killer acute leukemia. The disease progressed rapidly and the patient died shortly after the diagnosis.
Sujets)
Adolescent , Cellules tueuses naturelles , Leucémies/immunologie , Leucémies/anatomopathologie , Leucémies/thérapie , Antigènes CD/immunologie , BiopsieRésumé
The term" small round cell tumour"describes a group of highly aggressive tumours composed of relatively small and monotonous undifferentiated cells with high nuclear to cytoplasmic ratio. This group includes: Ewing sarcoma [EWS], Peripheral neuroepithelioma [PN], Primitive neuroectodermal tumour [PNET], Neuroblastoma, Rhabdomyosarcoma [RMS], Desmoplastic small round cell tumour [DSRCT], Lymphoma, Leukemia, Small cell osteosarcoma Small cell carcinoma, Olfactory neuroblastoma, Merkel cell carcinoma, Small cell melanoma, and Mesenchymal chondrosarcoma. Their clinical presentation often overlap, thus making a definitive diagnosis problematic in some cases. Yet, a clear undrestanding of their clinicopathologic features usually allows for a confident diagnosis, especially if immunohistochemistry is used. This is an immunohistochemistry study of small round cell tumours with unknown origin that were diagnosed in pathology service of Imam Reza Hospital from 1362-1382. In this period, we found 24 cases which were reported SRCT without definitive diagnosis the immunohistochemistry kits are from DAKO Company and applied as directed by manufacturers. The SRCT is most frequent in the first decade of life [45%], 13 cases were male and 11 cases were female. IHC influence on diagnosis in 11 cases [46%] confirm the first ordered diagnosis and diagnosis made in another 9 [33%] of SRCTs,and in 2cases[8%]the first diagnosis was changed. Overally in review, 35 cases from 48 SRCTs with unknown origin [%75] were diagnosed by routine stainings by light microscopy without immunohistochemistry
Sujets)
Humains , Mâle , Femelle , Carcinome à petites cellules/diagnostic , Cellules souches , Sarcome d'Ewing/anatomopathologie , Tumeurs neuroectodermiques primitives périphériques/anatomopathologie , Neuroblastome/anatomopathologie , Rhabdomyosarcome/anatomopathologie , Lymphomes/anatomopathologie , Leucémies/anatomopathologie , Sarcome à petites cellules/anatomopathologie , ImmunohistochimieRésumé
As leucemias são neoplasias hematológicas decorrentes do desequilíbrio entre as taxas de proliferação, maturação e apoptose das células hematopoéticas, comumente associadas com polimorfismos gênicos. Polimorfismos nos genes do TNFa e da enzima MTHFR têm sido associados como fatores de susceptibilidade para diversas patologias, inclusive neoplasias hematológicas. O presente estudo investigou a freqüência do polimorfismo -308 da região promotora no gene do TNFa, cuja variante genotipica AA está associada a níveis de transcrição elevados da citocina, e dos polimorfismos C677T e A1298C no gene da MTHFR, que estão associados com atividade enzimática reduzida. Para investigação dos polimorfismos foi utilizada a técnica de PCR-RFLP. Foram estudados 94 pacientes leucêmicos, sendo 66 portadores de LMC e 28 de LMA-M3, além de 100 indivíduos da população de Salvador. Dos 66 pacientes com LMC, cinco (7,6%) foram homozigotos para a variante genotipica menos comum (AA) do polimorfismo -308 do TNF. Essa freqüência foi de 3,7% entre os 28 portadores de LMA-M3 e de 3,0% entre os indivíduos do grupo populacional. Dentre os portadores de 66 LMC, dois (3,0%) foram homozigotos para a variante TT do polimorfismo C677T da MTHFR, sendo que foi encontrada frequência de 7,1% entre os portadores de LMA- M3 e de 6,0% para o grupo populacional. Para o polimorfismo A1298C da MTHFR, as freqüências encontradas para a variante CC foram de 4,5% entre os 66 portadores de LMC, 3,6% entre os 28 portadores de LMA-M3 e 5,0% entre os indivíduos do grupo populacional. Diante dos resultados obtidos, concluímos que os polimorfismos -308 (TNFa), bem como C677T e A1298 (MTHFR) parecem não interferir diretamente com os mecanismos de patogênese da LMC e LMA-M3.
Sujets)
Humains , Gènes/génétique , Gènes/immunologie , Leucémies/immunologie , Leucémies/mortalité , Leucémies/anatomopathologie , Leucémies/prévention et contrôle , Leucémies/sang , Leucémies/traitement médicamenteuxRésumé
Myxomatous stromal changes and bone marrow necrosis (BMN) are uncommon histologic findings. These changes have been found in various conditions like disseminated carcinomatosis, postchemotherapy cases, chronic infections, infiltrative disorders of the marrow etc. The present study is a retrospective study of 3 years (Jan, 1999 to Dec. 2001) from Deptt. Of Hematology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh (India). During this period, 3740 bone marrow samples were examined. Myxomatous stromal changes and bone marrow necrosis were noted in 0.43% (16/3740) and 0.45% (17/3740) samples respectively. In addition to common causes of myxomatous stromal changes and bone marrow necrosis as described in the literature, this study highlights the association of these conditions with some of the rarer entities like hyperoxalosis, leishmaniasis, parvovirus induced marrow aplasia and cryptococcal infection. There is paucity of such associations in the literature.