Displasia cleidocraniana: aspectos clínicos e radiográficos e relato de um caso clínico

Cleidocranial dysplasia is characterized by multiple abnormalities, mainly those related to craniofacial and corporal skeleton, besides oral and dental anomaly. The aim of this paper is to report a case of a female patient, 25 years old, who has characteristical signs of this pathology. General aspects of the disease, as well clinical and radiographic findings are also discussed and empathized, due to its rare occurrence.A Displasia Cleidocraniana (DCC) é caracterizada por múltiplas anormalidades, principalmente aquelas pertencentes ao esqueleto craniofacial e corporal, e também anormalidades buco-dentais. O objetivo deste artigo é apresentar o caso de uma paciente, gênero feminino, 25 anos, portadora de sinais característicos dessa entidade patológica. Os aspectos gerais da doença, assim como os sinais clínicos e radiográficos da síndrome são também discutidos e enfatizados, dada a sua rara ocorrência

Classification of haematopoietic and lymphoid tumors: WHO, standardization of nomenclature in Portuguese, 4th edition

INTRODUCTION: The World Health Organization (WHO) classification of hematopoietic and lymphoid tissue (4th edition, 2008) tumors constitutes an updated review of the 3rd edition published in 2001. The translation of the nomenclature used to describe the entities should be clear, precise and uniform so that clinicians, pathologists and researchers involved in the onco-hematopathological area may identify them accurately. OBJECTIVE: With this purpose, the authors present an updated proposal and a terminological standardization in Portuguese based on WHO/2008INTRODUÇÃO: A classificação da Organização Mundial da Saúde (OMS) para os tumores do tecido hematopoético e linfoide (4ª edição, 2008) representa uma revisão atualização da 3ª edição publicada em 2001. A tradução da nomenclatura utilizada para identificar as entidades descritas deve ser clara, precisa e uniforme no sentido de reproduzir de forma correta as diversas entidades clinicopatológicas para clínicos, patologistas e pesquisadores envolvidos na área da onco-hematopatologia. OBJETIVO: Os autores apresentam uma proposta de atualização e padronização terminológica em língua portuguesa, com base na OMS/2008Universidade de São Paulo Faculdade de Medicina Departamento de PatologiaUSP Faculdade de Odontologia Departamento de PatologiaHospital do Câncer A. C. Camargo Departamento de Anatomia PatológicaUniversidade Federal do Rio de Janeiro Departamento de PatologiaUniversidade Estadual de Campinas Faculdade de Ciências Médicas Departamento de Anatomia PatológicaFMUSP Hospital das ClínicasHospital Israelita Albert Einstein Setor de Citogenética Laboratório ClínicoUniversidade Federal de São Paulo (UNIFESP)Fleury Medicina Diagnóstica Laboratório de CitogenéticaSanta Casa de São Paulo Faculdade de Ciências MédicasFMUSP HC Divisão de Anatomia PatológicaUNIFESP Departamento de PatologiaFMUSP Instituto do CoraçãoFMUSP Instituto de Ortopedia e Traumatologia Departamento de PatologiaFleury Medicina DiagnósticaInstituto Adolfo LutzHospital Alemão Oswaldo CruzFCMSCSP Departamento de PatologiaUNIFESP, Depto. de PatologiaSciEL

T-Cell Lymphomas in South America and Europe

Peripheral T-cell lymphomas are a group of rare neoplasms originating from clonal proliferation of mature post-thymic lymphocytes with different entities having specific biological characteristics and clinical features. As natural killer cells are closely related to T-cells, natural killer-cell lymphomas are also part of the group. The current World Health Organization classification recognizes four categories of T/natural killer-cell lymphomas with respect to their presentation: disseminated (leukemic), nodal, extranodal and cutaneous. Geographic variations in the distribution of these diseases are well documented: nodal subtypes are more frequent in Europe and North America, while extranodal forms, including natural killer-cell lymphomas, occur almost exclusively in Asia and South America. On the whole, T-cell lymphomas are more common in Asia than in western countries, usually affect adults, with a higher tendency in men, and, excluding a few subtypes, usually have an aggressive course and poor prognosis. Apart from anaplastic lymphoma kinase-positive anaplastic large cell lymphoma, that have a good outcome, other nodal and extranodal forms have a 5-year overall survival of about 30%. According to the principal prognostic indexes, the majority of patients are allocated to the unfavorable subset. In the past, the rarity of these diseases prevented progress in the understanding of their biology and improvements in the efficaciousness of therapy. Recently, international projects devoted to these diseases created networks promoting investigations on T-cell lymphomas. These projects are the basis of forthcoming cooperative, large scale trials to detail biologic characteristics of each sub-entity and to possibly individuate targets for new therapies.424

Classification of haematopoietic and lymphoid tumors: WHO, standardization of nomenclature in Portuguese, 4th edition

INTRODUCTION: The World Health Organization (WHO) classification of hematopoietic and lymphoid tissue (4th edition, 2008) tumors constitutes an updated review of the 3rd edition published in 2001. The translation of the nomenclature used to describe the entities should be clear, precise and uniform so that clinicians, pathologists and researchers involved in the onco-hematopathological area may identify them accurately. OBJECTIVE: With this purpose, the authors present an updated proposal and a terminological standardization in Portuguese based on WHO/2008INTRODUÇÃO: A classificação da Organização Mundial da Saúde (OMS) para os tumores do tecido hematopoético e linfoide (4ª edição, 2008) representa uma revisão atualização da 3ª edição publicada em 2001. A tradução da nomenclatura utilizada para identificar as entidades descritas deve ser clara, precisa e uniforme no sentido de reproduzir de forma correta as diversas entidades clinicopatológicas para clínicos, patologistas e pesquisadores envolvidos na área da onco-hematopatologia. OBJETIVO: Os autores apresentam uma proposta de atualização e padronização terminológica em língua portuguesa, com base na OMS/200864364

Modern techniques of magnetic resonance in the evaluation of primary central nervous system lymphoma: contributions to the diagnosis and differential diagnosis

Abstract In addition to findings from conventional magnetic resonance imaging, modern magnetic resonance imaging techniques have provided important information about tumor metabolism, in vivo metabolite formation, water molecule diffusion, microvascular density, and blood-brain barrier permeability, all of which have improved the in vivo diagnostic accuracy of this method in the evaluation of primary central nervous system lymphoma. These nonconventional magnetic resonance techniques are useful in the clinical practice because they enhance conventional magnetic resonance imaging by reinforcing the possibility of a diagnosis and by allowing the early detection of disease recurrence. This report is a review of the most relevant contributions of nonconventional magnetic resonance techniques to the imaging diagnosis of primary central nervous system lymphoma, the differential diagnosis of this disease, and the prognosis of patients. This paper aims to describe a wide range of presentations of primary central nervous system lymphoma, their appearance in imaging, and the differential diagnoses of this disease

Philadelphia-negative chronic myeloproliferative neoplasms

Chronic myeloproliferative diseases without the Philadelphia chromosome marker (Ph-), although first described 60 years ago, only became the subject of interest after the turn of the millennium. In 2001, the World Health Organization (WHO) defined the classification of this group of diseases and in 2008 they were renamed myeloproliferative neoplasms based on morphological, cytogenetic and molecular features. In 2005, the identification of a recurrent molecular abnormality characterized by a gain of function with a mutation in the gene encoding Janus kinase 2 (JAK2) paved the way for greater knowledge of the pathophysiology of myeloproliferative neoplasms. The JAK2 mutation is found in 90-98% of polycythemia vera and in about 50% essential thrombocytosis and primary myelofibrosis. In addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation), LNK (a membrane-bound adaptor protein); IDH1/2 (isocitrate dehydrogenase 1/2 enzyme); ASXL1 (additional sex combs-like 1) genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases. Currently, polycythemia vera, essential thrombocytosis, myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia and mastocytosis are included in this group of myeloproliferative neoplasms, but are considered different situations with individualized diagnostic methods and treatment. This review updates pathogenic aspects, molecular genetic alterations, the fundamental criteria for diagnosis and the best approach for each of these entities

Age-adjusted international prognostic index is a predictor of survival in gastric diffuse B-cell non-Hodgkin lymphoma patients

Background The clinical course of gastric lymphoma is heterogeneous and clinical symptoms and some factors have been related to prognosis. Objective The present study aims to identify prognostic factors in gastric diffuse B-cell non-Hodgkin lymphoma diagnosed and treated in different countries. Methods A consecutive series of gastric diffuse B-cell non-Hodgkin lymphoma patients diagnosed and treated in Brazil, Portugal and Italy, between February 2008 and December 2014 was evaluated. Results Of 104 patients, 57 were female and the median age was 69 years (range: 28\ue2\u80\u9388). The distribution of the age-adjusted international prognostic index was 12/95 (13%) high risk, 20/95 (21%) high-intermediate risk and 63/95 (66%) low/low-intermediate risk. Symptoms included abdominal pain (63/74), weight loss (57/73), dysphagia (37/72) and nausea/vomiting (37/72). Bulky disease was found in 24% of the cases, anemia in 33 of 76 patients and bleeding in 22 of 72 patients. The median follow-up time was 25 months (range: 1\ue2\u80\u9377 months), with 1- and 5-year survival rates of 79% and 76%, respectively. The multivariate Cox Regression identified the age-adjusted international prognostic index as a predictor of death (hazard risk: 3.62; 95% confidence interval: 2.21\ue2\u80\u935.93; p-value <0.0001). Conclusions This series identified the age-adjusted international prognostic index as predictive of mortality in patients treated with conventional immunochemotherapy

Age-adjusted international prognostic index is a predictor of survival in gastric diffuse B-cell non-Hodgkin lymphoma patients

ABSTRACT BACKGROUND: The clinical course of gastric lymphoma is heterogeneous and clinical symptoms and some factors have been related to prognosis. OBJECTIVE: The present study aims to identify prognostic factors in gastric diffuse B-cell non-Hodgkin lymphoma diagnosed and treated in different countries. METHODS: A consecutive series of gastric diffuse B-cell non-Hodgkin lymphoma patients diagnosed and treated in Brazil, Portugal and Italy, between February 2008 and December 2014 was evaluated. RESULTS: Of 104 patients, 57 were female and the median age was 69 years (range: 28-88). The distribution of the age-adjusted international prognostic index was 12/95 (13%) high risk, 20/95 (21%) high-intermediate risk and 63/95 (66%) low/low-intermediate risk. Symptoms included abdominal pain (63/74), weight loss (57/73), dysphagia (37/72) and nausea/vomiting (37/72). Bulky disease was found in 24% of the cases, anemia in 33 of 76 patients and bleeding in 22 of 72 patients. The median follow-up time was 25 months (range: 1-77 months), with 1- and 5-year survival rates of 79% and 76%, respectively. The multivariate Cox Regression identified the age-adjusted international prognostic index as a predictor of death (hazard risk: 3.62; 95% confidence interval: 2.21-5.93; p-value <0.0001). CONCLUSIONS: This series identified the age-adjusted international prognostic index as predictive of mortality in patients treated with conventional immunochemotherapy