RESUMO
Establishing a diagnosis in patients suspected of having a myelodysplastic syndrome (MDS) can be challenging and could be informed by the identification of somatic mutations. We performed a prospective study to examine the frequency and types of mutations encountered in 144 patients with unexplained cytopenias. Based on bone marrow findings, 17% were diagnosed with MDS, 15% with idiopathic cytopenias of undetermined significance (ICUS) and some evidence of dysplasia, and 69% with ICUS and no dysplasia. Bone marrow DNA was sequenced for mutations in 22 frequently mutated myeloid malignancy genes. Somatic mutations were identified in 71% of MDS patients, 62% of patients with ICUS and some dysplasia, and 20% of ICUS patients and no dysplasia. In total, 35% of ICUS patients carried a somatic mutation or chromosomal abnormality indicative of clonal hematopoiesis. We validated these results in a cohort of 91 lower-risk MDS and 249 ICUS cases identified over a 6-month interval. Mutations were found in 79% of those with MDS, in 45% of those with ICUS with dysplasia, and in 17% of those with ICUS without dysplasia. The spectrum of mutated genes was similar with the exception of SF3B1 which was rarely mutated in patients without dysplasia. Variant allele fractions were comparable between clonal ICUS (CCUS) and MDS as were mean age and blood counts. We demonstrate that CCUS is a more frequent diagnosis than MDS in cytopenic patients. Clinical and mutational features are similar in these groups and may have diagnostic utility once outcomes in CCUS patients are better understood.
Assuntos
Alelos , Aberrações Cromossômicas , Frequência do Gene , Hematopoese/genética , Mutação , Síndromes Mielodisplásicas , Fatores Etários , Feminino , Humanos , Masculino , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/metabolismo , Síndromes Mielodisplásicas/patologia , Estudos Prospectivos , Estudos RetrospectivosAssuntos
Pé/patologia , Linfoma Cutâneo de Células T/patologia , Papulose Linfomatoide/diagnóstico , Transtornos Linfoproliferativos/diagnóstico , Biópsia , Humanos , Papulose Linfomatoide/prevenção & controle , Transtornos Linfoproliferativos/prevenção & controle , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Prevenção SecundáriaAssuntos
Bochecha , Linfoma Cutâneo de Células T/patologia , Paniculite/patologia , Neoplasias Cutâneas/patologia , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica , Feminino , Humanos , Linfoma Cutâneo de Células T/tratamento farmacológico , Linfoma Cutâneo de Células T/cirurgia , Paniculite/tratamento farmacológico , Paniculite/cirurgia , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/cirurgia , Tela Subcutânea/patologiaAssuntos
Doença de Hodgkin/patologia , Linfoma de Células B/patologia , Neoplasias do Mediastino/patologia , Adulto , Biópsia por Agulha Fina , Diagnóstico Diferencial , Feminino , Doença de Hodgkin/diagnóstico por imagem , Humanos , Linfoma de Células B/diagnóstico por imagem , Neoplasias do Mediastino/diagnóstico por imagem , RadiografiaAssuntos
Neoplasias Encefálicas/patologia , Recidiva Local de Neoplasia/patologia , Glândula Pineal , Pinealoma/patologia , Neoplasias Encefálicas/metabolismo , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Pinealoma/metabolismoRESUMO
Lymphogranuloma venereum (LGV), or chlamydial proctitis, is a classic sexually transmitted disease with prominent gastrointestinal manifestations. The disease has received little attention in recent years, especially in relation to human immunodeficiency virus (HIV) infection. However, outbreaks of LGV have been reported in several large cities in Europe and the United States over the past few years, occurring in both HIV-infected and -uninfected individuals, and the reports have been largely limited to the sexually transmitted disease literature. We recently diagnosed four cases of chlamydial proctitis in HIV-infected individuals, who had different clinical presentations but very similar endoscopic and histopathologic features, as well as prompt and complete response to therapy. It is important for gastroenterologists to recognize that LGV may be reemerging as a relevant clinical entity, because of its similarity to inflammatory bowel diseases and its response to treatment with antibiotics.