RESUMO
BACKGROUND: This study aims to genomically characterize melanoma of unknown primary (MUP) in comparison to melanomas of cutaneous primary (MCP). METHODS: Eligible cases were collected from the MSK-IMPACT™ Clinical Sequencing Cohort published in the cBioPortal database. Genomic analysis was performed using a hybridization-capture-based next-generation sequencing assay designed to detect mutations, small insertions and deletions, copy number alterations, and genomic rearrangements. RESULTS: Among 462 patients of whom 18.4% had MUP, brain metastasis was more common among patients with MUP (23% vs 7.1%). The differences in genomic profiling between MCP and MUP did not reach statistical significance. The 187 MCP and 44 MUP patients treated with immune checkpoint inhibitors had a median overall survival of 49 and 44 months, respectively (p = 0.705). CONCLUSIONS: The differences in somatic mutation patterns and survival outcomes were not statistically significant. These findings may allude to similar carcinogenic processes but should be considered exploratory and interpreted with caution.
Assuntos
Melanoma/genética , Neoplasias Primárias Desconhecidas/genética , Neoplasias Cutâneas/genética , Neoplasias Encefálicas/secundário , Variações do Número de Cópias de DNA , Bases de Dados Genéticas , Feminino , Deleção de Genes , Rearranjo Gênico , Genes da Neurofibromatose 1 , Genes p53 , Perfil Genético , Genômica , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Neoplasias Pulmonares/secundário , Masculino , Melanoma/tratamento farmacológico , Melanoma/mortalidade , Melanoma/secundário , Mutação , Neoplasias Primárias Desconhecidas/tratamento farmacológico , Neoplasias Primárias Desconhecidas/mortalidade , Neoplasias Primárias Desconhecidas/patologia , Proteínas Tirosina Quinases/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/patologia , Telomerase/genéticaRESUMO
Renal cell carcinoma (RCC) is rarely diagnosed during pregnancy and its management represents a real challenge. As the symptomatology might mimic other common pregnancy-related disorders, the diagnosis is often delayed. RCC should be considered in women of childbearing age who present with recurrent or refractory urinary tract symptoms, flank pain, or a palpable mass. Ultrasound appears to be the imaging procedure of choice followed by the magnetic resonance imaging for evaluating the urinary system in pregnant women. The probability of cure is directly related to the stage or degree of tumor dissemination. Surgical resection is the mainstay of treatment.