RESUMO
Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, is an autosomal dominant, tumor predisposing disorder usuallycaused by germline mutations in mismatch repair (MMR) genes. A subset of HNPCC, Muir-Torre Syndrome (MTS) also involves MMR gene defects and is generally accepted as a variant of HNPCC. MTS is typicallycharacterized by at least one visceral malignancy and one cutaneous neoplasm of sebaceous differentiation, with or without keratoacanthomas. In either version of the disorder, nonfunctional MMR systems lead tothe loss of genomic integrity, marked commonly by mismatches in repetitive DNA sequences, resulting in microsatellite instabilities. Deleterious nucleotide alterations ultimately drive the process of tumorigenesis in both HNPCC and MTS. The following article reviews the epidemiology, genetics, clinical presentation, and management of HNPCC and its MTS variant.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose , Síndrome de Muir-Torre , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/terapia , Diagnóstico Diferencial , Humanos , Síndrome de Muir-Torre/diagnóstico , Síndrome de Muir-Torre/genética , Síndrome de Muir-Torre/terapiaRESUMO
A 71-year-old asymptomatic female with a history of breast cancer status after right total mastectomy had interval development of several new nodules in the left breast in a 1-year time span. Stereotactic biopsy was performed, which revealed multifocal Rosai Dorfman disease in the left breast. The patient was referred to hematology, and computed tomography of the chest/abdomen/pelvis did not demonstrate any lymphadenopathy elsewhere in the body. This case report discusses incidences of extranodal Rosai Dorfman disease and the differential for breast lesions that can present the same way.