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1.
Hum Genet ; 139(6-7): 769-776, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32405658

RESUMEN

Over the last decade next generation sequencing (NGS) has been extensively used to identify new pathogenic mutations and genes causing rare genetic diseases. The efficient analyses of NGS data is not trivial and requires a technically and biologically rigorous pipeline that addresses data quality control, accurate variant filtration to minimize false positives and false negatives, and prioritization of the remaining genes based on disease genomics and physiological knowledge. This review provides a pipeline including all these steps, describes popular software for each step of the analysis, and proposes a general framework for the identification of causal mutations and genes in individual patients of rare genetic diseases.


Asunto(s)
Biología Computacional/métodos , Genes/genética , Enfermedades Genéticas Congénitas/etiología , Genoma Humano , Mutación , Medicina de Precisión , Enfermedades Raras/etiología , Enfermedades Genéticas Congénitas/patología , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Enfermedades Raras/patología , Programas Informáticos
2.
Bull Cancer ; 107(3): 385-390, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32115180

RESUMEN

The group of rare malignant ovarian tumors includes the group of germ cell tumors, sex cords stromal ovarian tumors, small cell carcinoma, malignant Brenner tumors, rare epithelial tumors such as mucinous carcinoma, clear cell carcinoma, or low-grade serous carcinoma, as well as ovarian carcinosarcoma. Together they comprise about 10% of all ovarian tumors. Due to their low prevalence and their heterogeneity, data and treatment recommendations are limited. Even though all ovarian tumors are staged according to the FIGO staging of epithelial ovarian tumors, treatment differs especially in germ cell tumors and sex cords stromal ovarian tumors. Non-epithelial ovarian tumors can arise from a variety of ovarian precursor cells such as germ cells, granulosa cells, theca cells, or stromal fibroblasts. As can be expected already due to their divergent precursor lesions, these malignancies are substantially different but united by their rarity. This overview article gives a comprehensive summary on the pathology and clinical presentation, as well as therapy recommendations of a selection of those rare ovarian tumors, based on the latest national guidelines and related important publications.


Asunto(s)
Neoplasias Ováricas , Enfermedades Raras , Adenocarcinoma de Células Claras/patología , Adenocarcinoma de Células Claras/terapia , Adenocarcinoma Mucinoso/patología , Adenocarcinoma Mucinoso/terapia , Tumor de Brenner/patología , Tumor de Brenner/terapia , Carcinoma de Células Pequeñas/patología , Carcinoma de Células Pequeñas/terapia , Carcinosarcoma/patología , Carcinosarcoma/terapia , Cistadenocarcinoma Seroso/patología , Cistadenocarcinoma Seroso/terapia , Femenino , Humanos , Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias de Células Germinales y Embrionarias/terapia , Neoplasias Ováricas/patología , Neoplasias Ováricas/terapia , Enfermedades Raras/patología , Enfermedades Raras/terapia , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/terapia
3.
Pediatr Blood Cancer ; 67(4): e28154, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31930719

RESUMEN

BACKGROUND: Esthesioneuroblastoma (ENB) is a rare neuroectodermal tumor that seldom occurs during childhood. Multimodal treatments are currently proposed, but the place of each therapy is still in debate. Our objective is to describe clinical evolution, especially the pattern of relapses and determine contributors to tumor progression. PROCEDURE: Medical charts of all children (≤18 years) affected by ENB treated in France from January 1990 to December 2015 were retrospectively analyzed. RESULTS: Eighteen patients were selected (10 males). Median age at diagnosis was 12.2 years (0.9-18). Tumor extension was Kadish stage A (n = 1), B (n = 3), C (n = 10), and D (n = 4). Hyams histological grades were I (n = 1), II (n = 3), III (n = 6), and IV (n = 6) (in two cases not defined). Initial cervical nodal spread was assessed by magnetic resonance imaging (n = 15), computed tomography scan (n = 16), fluorodeoxyglucose-positron emission tomography-computed tomography (n = 7), and cytological/histological analysis (n = 2). N1 stage was confirmed by imaging in two of 18 cases and one of two cases had cervical node dissection with neck irradiation (58 Gy). After a median follow-up of survivors of 7.6 years (3.8-17.9), 10 patients developed neuromeningeal progression, whereas no cervical nodal relapse occurred and only eight survived. Both 5-year overall and event-free survival rates were 44.4% (±11.7%). CONCLUSIONS: The poor prognosis is mainly related to neuromeningeal dissemination that should be considered during treatment strategy. However, cervical lymph node relapse is rare.


Asunto(s)
Estesioneuroblastoma Olfatorio/patología , Cavidad Nasal/patología , Recurrencia Local de Neoplasia/patología , Neoplasias Nasales/patología , Enfermedades Raras/patología , Adolescente , Niño , Preescolar , Terapia Combinada , Estesioneuroblastoma Olfatorio/terapia , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Recurrencia Local de Neoplasia/terapia , Neoplasias Nasales/terapia , Pronóstico , Enfermedades Raras/terapia , Estudios Retrospectivos , Tasa de Supervivencia
5.
Autoimmun Rev ; 19(2): 102454, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31838158

RESUMEN

OBJECTIVE: Immune checkpoint inhibitors have introduced a new and heterogeneous class of immune-related adverse effects, with the endocrine system being a predominant target for autoimmunity. Autoimmune hypothalamic-pituitary-adrenal axis (HPA) diseases induced by checkpoint inhibitors are being increasingly recognized. We aimed to characterize the spectrum of checkpoint associated hypothalamic-pituitary-adrenal axis endocrinopathies. DESIGN: A retrospective cohort study of a tertiary cancer center. METHODS: Patients were characterized for HPA axis abnormalities based on clinical and pituitary axes evaluation. The risk for developing HPA endocrinopathies was compared by log- rank test, by the time since checkpoint inhibitors initiation. Additionally, the risk for developing HPA endocrinopathies after adjusting for covariates was assessed using multivariable logistic regression analysis. RESULTS: Among 1615 patients, fourteen (0.87%) patients developed isolated adrecocorticotrophic hormone deficiency (IAD), six (0.37%) - hypophysitis and no case of adrenalitis was identified. IAD presented with mild and non-specific symptoms, mainly asthenia. In multivariable analysis, exposure to both PD-1/PD-L1 and Ipilimumab and female gender were associated with an increased odds ratio (OR) for developing IAD (6.98 [95% CI 2.38-20.47, p < .001] and 3.67 [95% CI 1.13-11.84, p = .03]), respectively. CONCLUSIONS: IAD, a rare disease before the immunotherapy era, has become a predominant checkpoint related HPA axis autoimmune injury. Despite its life threatening potential, IAD may be missed due to its subtle presentation. Patients exposed to Ipilimumab and PD-1/PD-L1 in combination or sequentially and women have an increased risk for developing IAD.


Asunto(s)
Insuficiencia Suprarrenal/inducido químicamente , Ipilimumab/efectos adversos , Receptor de Muerte Celular Programada 1/antagonistas & inhibidores , Insuficiencia Suprarrenal/patología , Insuficiencia Suprarrenal/fisiopatología , Adulto , Anciano , Femenino , Humanos , Sistema Hipotálamo-Hipofisario/efectos de los fármacos , Sistema Hipotálamo-Hipofisario/patología , Sistema Hipotálamo-Hipofisario/fisiopatología , Masculino , Persona de Mediana Edad , Sistema Hipófiso-Suprarrenal/efectos de los fármacos , Sistema Hipófiso-Suprarrenal/patología , Sistema Hipófiso-Suprarrenal/fisiopatología , Enfermedades Raras/inducido químicamente , Enfermedades Raras/patología , Enfermedades Raras/fisiopatología , Estudios Retrospectivos
6.
Urology ; 135: 71-75, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31195014

RESUMEN

OBJECTIVE: To summarize the clinical characteristics and surgical management of adrenal teratoma in adults. PATIENTS AND METHODS: We retrospectively reviewed 14 patients with adrenal teratoma from January 2002 to June 2017, at 2 large centers in China and performed a systematic review of 39 patients from our series and published literatures. The clinicopathological characteristics, imaging features, surgical management and outcomes of this rare disease were analyzed. RESULTS: Our series includes 12 females and 2 males with the median age of 35. Seven patients were treated by open adrenalectomy (OA) and 7 by laparoscopic adrenalectomy (LA) without perioperative complications. All patients were alive without recurrence or canceration over a mean follow-up of 77.1 months. In the systemic review, the male-female ratio was nearly 1:3, with a median age of 29 years. Mean tumor size was 9.4 cm and the distribution was almost the same between left and right side (53.8% vs 46.2%). The most common symptoms were flank or abdominal pain (46.2%), whereas 53.8% patients were asymptomatic. Tumors were often cystic (63.9%) with intratumoral fat (91.7%) and calcifications (80.6%). All patients underwent surgery including 17 (43.6%) OA and 22 (56.4%) minimally invasive surgery. All tumors were pathologically confirmed mature teratoma except for one. CONCLUSION: Adrenal teratoma is an extremely rare entity, frequently found to be large, benign and cystic. The patient's prognosis is generally good. As for its large volume, OA is the first choice for teratoma in most cases, while the LA can be an option in the small one.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/cirugía , Glándulas Suprarrenales/patología , Enfermedades Asintomáticas/terapia , Enfermedades Raras/cirugía , Teratoma/cirugía , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/patología , Glándulas Suprarrenales/cirugía , Adrenalectomía , Adulto , China , Femenino , Estudios de Seguimiento , Humanos , Laparoscopía , Masculino , Pronóstico , Enfermedades Raras/diagnóstico , Enfermedades Raras/patología , Estudios Retrospectivos , Teratoma/diagnóstico , Teratoma/patología , Resultado del Tratamiento
7.
Int J Gynecol Pathol ; 39(1): 8-18, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30480644

RESUMEN

Epithelioid trophoblastic tumor is a malignancy derived from the chorionic laeve-type intermediate trophoblast with sufficient rarity that the vast majority of literature on the topic exists in the form of case reports and small series. Classically, it is regarded as a well-circumscribed tumor with an expansile growth pattern that occurs in reproductive-aged women, usually after a normal pregnancy. However, we recently encountered a case of epithelioid trophoblastic tumor with aggressive spread throughout the abdomen and pelvis in a 68-yr-old female presenting 30 yr after her last delivery. Although to our knowledge this is the first report in a postmenopausal patient to be confirmed by molecular analysis of short tandem repeats, there are multiple similar case reports spanning a variety of clinical settings that deviate from the original description. We therefore sought to synthesize the clinicopathologic data among the available reports in the English literature, with emphasis on pathologic findings. While the overarching themes are largely unchanged, this series of 77 patients reveals a broader spectrum of disease and highlights frequent misdiagnosis. Here we present a clinicopathologic update on this rare entity, with emphasis on a practical approach to diagnosis.


Asunto(s)
Células Epitelioides/patología , Neoplasias Trofoblásticas/diagnóstico , Neoplasias Trofoblásticas/patología , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patología , Adolescente , Adulto , Anciano , Femenino , Técnicas de Genotipaje , Humanos , Inmunohistoquímica , Persona de Mediana Edad , Posmenopausia , Embarazo , Enfermedades Raras/diagnóstico , Enfermedades Raras/genética , Enfermedades Raras/patología , Factores de Tiempo , Neoplasias Trofoblásticas/genética , Neoplasias Uterinas/genética , Adulto Joven
8.
J BUON ; 24(5): 2173-2179, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31786892

RESUMEN

PURPOSE: To evaluate differences between the data from project "Surveillance of Rare Cancers in Europe" (RARECARENet) and the data from the Institute of Oncology "Prof.Dr. Ion Chiricuta" (IOIC). METHODS: Data from institutional cancer registry of IOIC through 2012 to 2013 and the data published in RARECARENet project were compared. RESULTS: There were 14,127 cases in the IOIC cancer registry but only 13632 were compliant with the RARECARENet categories. Of these 7382 (54%) are common, 5975 (44%) are rare, and 275 (2%) are in the "Other" category compared to RARECARENet (64%, 22%, 14% (p<0.01). From a total of 65 tumor categories, 34 (2.3%) should be given special treatment for rare tumors. Comparing the cases of the IOIC with the data of the RARECARENet project, 14 out of 65 categories show significant structural differences and these represent 81% of our cases. 44.7% of cancers are rare compared to only 22% at the level of the European project (p<0.01). CONCLUSION: Globally, Oncology Institute "Prof.Dr. Ion Chiricuta" receives a large number of rare tumors. There are differences between RARECARENet and IOIC, but these differences are probably due largely to the fact that IOIC receives the largest number of rare tumors from the surrounding area.


Asunto(s)
Neoplasias/epidemiología , Enfermedades Raras/epidemiología , Europa (Continente)/epidemiología , Humanos , Neoplasias/patología , Neoplasias/terapia , Enfermedades Raras/patología , Enfermedades Raras/terapia , Sistema de Registros
9.
Genome Med ; 11(1): 83, 2019 12 17.
Artículo en Inglés | MEDLINE | ID: mdl-31847883

RESUMEN

BACKGROUND: Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnosed. Here, we report the added diagnostic yield achieved for 101 WES cases re-analyzed 1 to 7 years after initial analysis. METHODS: Of the 101 WES cases, 51 were rare idiopathic disease cases and 50 were postmortem "molecular autopsy" cases of early sudden unexplained death. Variants considered for reporting were prioritized and classified into three groups: (1) diagnostic variants, pathogenic and likely pathogenic variants in genes known to cause the phenotype of interest; (2) possibly diagnostic variants, possibly pathogenic variants in genes known to cause the phenotype of interest or pathogenic variants in genes possibly causing the phenotype of interest; and (3) variants of uncertain diagnostic significance, potentially deleterious variants in genes possibly causing the phenotype of interest. RESULTS: Initial analysis revealed diagnostic variants in 13 rare disease cases (25.4%) and 5 sudden death cases (10%). Re-analysis resulted in the identification of additional diagnostic variants in 3 rare disease cases (5.9%) and 1 sudden unexplained death case (2%), which increased our molecular diagnostic yield to 31.4% and 12%, respectively. CONCLUSIONS: The basis of new findings ranged from improvement in variant classification tools, updated genetic databases, and updated clinical phenotypes. Our findings highlight the potential for re-analysis to reveal diagnostic variants in cases that remain undiagnosed after initial WES.


Asunto(s)
Muerte Súbita , Exoma/genética , Enfermedades Raras/diagnóstico , Secuenciación del Exoma Completo , Adenosina Desaminasa/genética , Niño , Preescolar , Bases de Datos Genéticas , Femenino , Variación Genética , Humanos , Masculino , Cadenas Ligeras de Miosina/genética , Nucleotidasas/genética , Fenotipo , Enfermedades Raras/genética , Enfermedades Raras/patología , Ubiquitina-Proteína Ligasas/genética , Adulto Joven
10.
Gac Med Mex ; 155(5): 522-531, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31695234

RESUMEN

Morphea, or localized scleroderma, is a rare disease of the connective tissue that manifests itself with localized sclerosis of the skin and, in some cases, with extracutaneous manifestations. Its etiology is not fully understood, but it is believed that there is genetic predisposition, in addition to environmental triggering factors. Classification of the disease is not simple due to its multiple presentations; however, it is useful in order to define the treatment, which should be individualized and started early to avoid cosmetic and functional complications. In this review, we summarize the most important practical aspects of the classification, diagnostic methods and evaluation of morphea activity, as well as available therapeutic options, with an emphasis on existing clinical evidence regarding their efficacy and safety.


Asunto(s)
Enfermedades Raras , Esclerodermia Localizada , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad , Humanos , Enfermedades Raras/clasificación , Enfermedades Raras/diagnóstico , Enfermedades Raras/patología , Enfermedades Raras/terapia , Esclerodermia Localizada/clasificación , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/patología , Esclerodermia Localizada/terapia
11.
World J Surg Oncol ; 17(1): 184, 2019 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-31706333

RESUMEN

BACKGROUND: Traumatic ulcerative granuloma with stromal eosinophilia (TUGSE) is a rare self-limiting condition of the oral mucosa. The lesion manifests as an isolated ulcer that can be either asymptomatic or associated with mild to severe pain, and in most cases, it affects the tongue. TUGSE lesions may mimic malignancy such as squamous cell carcinoma, CD30 positive lymphoproliferative disorder, or infectious diseases such as primary syphilis, tuberculosis, or Epstein-Barr virus mucocutaneous ulcer. Histologically dominating cells are lymphocytes, histiocytes, and eosinophils. CASE PRESENTATION: We describe a TUGSE case of a patient with a solitary ulcer on the lower left retromolar buccal plane. Upon presentation, the patient reported a swelling on the buccal mucosa of the left lower jaw since 1 year with rapid growth over the last days and mild pain while chewing. The diameter of the intraoral lesion on the lower left retromolar buccal plane was approximately 4 × 3 cm; the lesion presented as indurated base with a central superficial ulceration of 2 × 1 cm, indicative for a malignant process. Histologically, the ulceration showed an expanding, infiltrative, and vaguely granulomatous morphology, involving the superficial mucosa and the fatty tissue, and extended between the deep striated muscle fibers. The lesion was rich in lymphocytes, histiocytes, and eosionophils intermingled with activated T-blasts without phenotypic abnormalities. TUGSE was then diagnosed based on the phenotype (especially the lacking expression of CD30, the retained T-cell phenotype, and the absence of Epstein-Barr virus), the clinical presentation, and the morphology. Twenty-six months after diagnosis, no recurrence of the ulceration was seen. CONCLUSIONS: As TUGSE may mimic malignancy or infectious diseases, biopsy is mandatory and should be combined with thorough clinical examination. A screening for infectious diseases (mainly syphilis, Epstein-Barr virus, and HIV infections) must be performed routinely. In most cases, the lesions resolve spontaneously, obviating the need of further actions other than clinical follow-up. The pathogenesis of TUGSE lesions is still under debate, although local traumatic events and a locotypic immune response have been suggested to be major contributing factors.


Asunto(s)
Granuloma Eosinófilo/diagnóstico , Mucosa Bucal/lesiones , Úlceras Bucales/diagnóstico , Enfermedades Raras/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Diagnóstico Diferencial , Granuloma Eosinófilo/etiología , Granuloma Eosinófilo/patología , Infecciones por Virus de Epstein-Barr/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Mucosa Bucal/patología , Neoplasias de la Boca/diagnóstico , Úlceras Bucales/etiología , Úlceras Bucales/patología , Enfermedades Raras/etiología , Enfermedades Raras/patología , Remisión Espontánea , Sífilis/diagnóstico , Tuberculosis/diagnóstico
13.
BMC Cancer ; 19(1): 965, 2019 Oct 17.
Artículo en Inglés | MEDLINE | ID: mdl-31623602

RESUMEN

BACKGROUND: Sarcomatoid carcinoma of unknown primary (SCUP) is a rare entity of either poorly differentiated carcinoma with sarcoma-like differentiation or a true mixed lineage neoplasm. Limited data regarding clinicopathological profile and management exists. METHODS: We retrospectively reviewed the MD Anderson Cancer of Unknown Primary database and tumor registry to identify 48 SCUP patients between 2001 and 2017. Patient characteristics, pathology, molecular diagnostics, treatments, and outcomes were obtained. Kaplan-Meier method was used to estimate overall survival (OS) and compared using log rank test. RESULTS: Median age at diagnosis was 59 years (range 27-86). Majority of patients were female (58%) and presented with ≥3 metastatic sites (52%), commonly lymph node (50%), bone (42%), lung (27%), and liver (21%). First line treatment included chemotherapy (35%), surgery (27%), and radiation (24%). Gemcitabine and docetaxel (18%) was the most common chemotherapy regimen. Median OS for entire cohort was 11 months (95% CI: 5.6 to 16.4). Poor performance status (PS), > 1 metastatic site, elevated lactate dehydrogenase (LDH), and high neutrophil-to-lymphocyte ratio (NLR) were significantly associated with worse OS on univariate analyses. On multivariate analyses, poor PS (HR 8.7; 95%CI: 3.0-25.0; p <  0.001) and high NLR (HR 3.4; 95%CI: 1.3-8.8; p = 0.011) emerged as independent prognostic factors for OS. CONCLUSIONS: SCUP is a rare presentation with an aggressive clinical course and limited survival. Diagnosis is difficult to make and requires careful review and synthesis of histology, immunohistochemistry, and molecular diagnostics. Chemotherapy resistance remains a challenge. Early mutational profiling is warranted, and clinical trial participation should be encouraged for this subset.


Asunto(s)
Carcinosarcoma/mortalidad , Carcinosarcoma/patología , Neoplasias Primarias Desconocidas/mortalidad , Neoplasias Primarias Desconocidas/patología , Enfermedades Raras/mortalidad , Enfermedades Raras/patología , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/inmunología , Carcinosarcoma/inmunología , Carcinosarcoma/terapia , Terapia Combinada , Resistencia a Antineoplásicos , Femenino , Estudios de Seguimiento , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Terapia Molecular Dirigida , Neoplasias Primarias Desconocidas/inmunología , Neoplasias Primarias Desconocidas/terapia , Pronóstico , Estudios Prospectivos , Enfermedades Raras/inmunología , Enfermedades Raras/terapia , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del Tratamiento
15.
Best Pract Res Clin Haematol ; 32(3): 196-206, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31585620

RESUMEN

Genomic analysis of cancer offers the hope of identifying new treatments or aiding in the selection of existing treatments. Rare leukemias pose additional challenges in this regard as samples may be hard to acquire and when found the underlying pathway may not be attractive to drug development since so few individuals are affected. In this case, it can be useful to identify common mutational overlap among subsets of rare leukemias to increase the number of individuals that may benefit from a targeted therapy. This chapter examines the current mutational landscape of large granular lymphocyte (LGL) leukemia with a focus on STAT3 mutations, the most common mutation in LGL leukemia to date. We examined the linkage between these mutations and autoimmune symptoms and disorders, in cases of obvious and suspected LGL leukemia. We then summarized and compared mutations in a set of other rare leukemias that also have JAK/STAT signaling pathway activation brought about by genomic changes. These include T-cell acute lymphoblastic leukemia (T-ALL), T-cell prolymphocytic leukemia (T-PLL), cutaneous T-cell lymphoma (CTCL), select peripheral T-cell lymphoma (PTCL), and adult T-cell leukemia/lymphoma (ATLL). Though STAT3 activation is common in these leukemias, the way in which it is achieved, such as the activating cytokine pathway and/or the co-mutational background, is quite diverse.


Asunto(s)
Genómica , Leucemia Linfocítica Granular Grande , Mutación , Enfermedades Raras , Humanos , Leucemia Linfocítica Granular Grande/clasificación , Leucemia Linfocítica Granular Grande/genética , Leucemia Linfocítica Granular Grande/metabolismo , Leucemia Linfocítica Granular Grande/patología , Leucemia-Linfoma de Células T del Adulto/clasificación , Leucemia-Linfoma de Células T del Adulto/genética , Leucemia-Linfoma de Células T del Adulto/metabolismo , Leucemia-Linfoma de Células T del Adulto/patología , Enfermedades Raras/clasificación , Enfermedades Raras/genética , Enfermedades Raras/metabolismo , Enfermedades Raras/patología , Factor de Transcripción STAT3/genética , Factor de Transcripción STAT3/metabolismo
16.
Lakartidningen ; 1162019 Sep 26.
Artículo en Sueco | MEDLINE | ID: mdl-31573670

RESUMEN

Systemic sclerosis is an autoimmune systemic disease with an annual incidence in Sweden of only 20 cases per million and a standardised mortality rate of 3-4. Disease onset is usually preceded by a period with Raynaud's phenomenon, combined with structurally abnormal nailbed capillaries and accompanied by presence of scleroderma related autoantibodies. The presenting symptoms are skin thickness, puffy fingers, digital ulcers, dysphagia, joint stiffness and pain, and pruritus. Optimal management involves a number of specialists including allied health professionals. Early recognition, diagnosis and treatment are important. The dominating causes of death are cardiopulmonary.


Asunto(s)
Esclerodermia Sistémica , Autoanticuerpos/inmunología , Humanos , Atención Primaria de Salud , Enfermedades Raras/complicaciones , Enfermedades Raras/diagnóstico , Enfermedades Raras/patología , Enfermedades Raras/terapia , Enfermedad de Raynaud/etiología , Derivación y Consulta , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/patología , Esclerodermia Sistémica/terapia
17.
Acta Histochem ; 121(8): 151449, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31570207

RESUMEN

AIM: To investigate clinico-pathological features of lymphoma of the lips, and review the literature. MATERIALS AND METHODS: Retrospective analysis and review of English literature, 1996-2016. RESULTS: Analysis included 23 cases, 7 new cases and 16 from literature, 12 M: 11 F, age 7-82 years. Four occurred in children, mean age 10.1; 19 in adults, mean 61.1 years. The lower lip was involved in the majority of cases (16, 69.56%). 14 (60.87%) were isolated to the lips, 8 (34.78%) were multifocal. Nine (39.13%) occurred in association with Sjogren's syndrome, of which one also had Hashimoto thyroiditis. IgG4-related disease and HIV were reported in one case each. The lip salivary glands were involved in most cases (19, 82.6%); 3 (13.6%) showed only cutaneous involvement. The typical presentation was single or multiple nodules (15, 65.21%), with surface ulceration in only two (8.69%). Constituent symptoms were absent in all cases, paresthesia was reported in one (4.34%). The majority (18, 78.26%) was extranodal marginal zone B-cell lymphoma - mucosa-associated lymphoid tissue lymphoma (EMZB-MALT), and one case each was mantle cell, NK-T cell, CD30 positive and plasmablastic lymphoma. CONCLUSION: The lips seem to have a unique pattern of non-Hodgkin lymphoma dominated by EMZB-MALT lymphoma, rarely other types. In more than half, neither Sjogren's syndrome nor other chronic inflammation was identified. Lesions tend to present as asymptomatic slowly progressing, non-ulcerated submucosal masses. Lymphoma should be considered even in the absence of constituent symptoms, as most cases showed none. Although the number of reported cases is rather small, disease course is usually prolonged and prognosis seems to be good.


Asunto(s)
Enfermedad de Hashimoto , Neoplasias de los Labios , Linfoma de Células B de la Zona Marginal , Enfermedades Raras , Síndrome de Sjögren , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Enfermedad de Hashimoto/metabolismo , Enfermedad de Hashimoto/patología , Humanos , Neoplasias de los Labios/metabolismo , Neoplasias de los Labios/patología , Linfoma de Células B de la Zona Marginal/metabolismo , Linfoma de Células B de la Zona Marginal/patología , Masculino , Persona de Mediana Edad , Enfermedades Raras/metabolismo , Enfermedades Raras/patología , Estudios Retrospectivos , Síndrome de Sjögren/metabolismo , Síndrome de Sjögren/patología
18.
Medicine (Baltimore) ; 98(43): e17349, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31651839

RESUMEN

RATIONALE: Diffuse pulmonary lymphangiomatos (DPL) is a rare aggressive lymphatic disorder characterized by proliferation of anastomozing lymphatic vessels and extremely rare in adult patients. PATIENT CONCERNS: We report a case of diffuse pulmonary lymphangiomatosis in 59-year-old man presented with cough and sputum for 2 months. DIAGNOSES: Combining clinical manifestations with results of radiological, bronchoscopy, and surgical lung biopsy, it was consistent with the diagnosis of DPL. INTERVENTIONS: After bronchoalveolar lavage and biopsy, symptom of cough got worse suddenly accompanied by excessive chyloptysis. The patient received an emergency surgical intervention and low fat medium chain fat treatment. OUTCOMES: The patient was discharged with a much better health condition. LESSONS: This case report is the oldest patient reported in the English literature, to the best of our knowledge. Serious complications of bronchoscopy should be considered, especially in DPL patients with severely enlarged mediastinum or with thin-walled translucent vesicles under endoscopy.


Asunto(s)
Tos/patología , Enfermedades Pulmonares/congénito , Linfangiectasia/congénito , Biopsia , Broncoscopía , Tos/etiología , Humanos , Pulmón/patología , Enfermedades Pulmonares/complicaciones , Enfermedades Pulmonares/patología , Linfangiectasia/complicaciones , Linfangiectasia/patología , Masculino , Persona de Mediana Edad , Enfermedades Raras/patología , Esputo
20.
G Chir ; 40(3): 217-224, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31484012

RESUMEN

Clear cell sarcoma of the kidney is an uncommon renal neopla sm of childhood. It represents about 4% of childhood malignant neoplasms and is generally more common in children under 5 years of age. In the present article, we describe the case of a 12-year-old male patient who came to our observation with left renal mass and with a clinical-laboratory picture indicative of inflammatory pathology.


Asunto(s)
Neoplasias Renales/diagnóstico por imagen , Enfermedades Raras/diagnóstico por imagen , Sarcoma de Células Claras/diagnóstico por imagen , Biopsia , Niño , Humanos , Riñón/diagnóstico por imagen , Riñón/patología , Neoplasias Renales/patología , Imagen por Resonancia Magnética , Masculino , Pielonefritis/diagnóstico , Enfermedades Raras/patología , Sarcoma de Células Claras/patología , Tomografía Computarizada por Rayos X , Ultrasonografía
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