RESUMO
Benign multi-cystic peritoneal mesothelioma (BMCM) is a very rare disease (about 150 cases observed). The aetiology is currently little-known, and the data collected, without having achieved conclusive re sults, identify two possible causes: neoplastic and reactive inflammatory. This case report refers to a recidivism of BCMC in a patient whose brother, few months before, underwent a left nephrectomy and right renal Radio Frequency Termo Ablation (RFTA) for bilateral papillary renal cell carcinoma. For the recurring trend, the onset in a male young patient without chronic inflammatory diseases evidence, the presence of a first degree relative with a rare carcinoma we supposed a neoplastic aetiology. The available literature suggests that both tumours (BCMC and renal cell carcinoma) are susceptible to oestrogens. This biomolecular mechanism could represent a valid antipathogenic hypothesis.
Assuntos
Carcinoma de Células Renais/genética , Neoplasias Renais/genética , Mesotelioma Cístico/genética , Recidiva Local de Neoplasia/genética , Neoplasias Peritoneais/genética , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Multicystic mesothelioma is a rare disease of unknown etiology and pathogenesis. Nothing has been known about the cytogenetic and molecular genetic features of these tumors. Here we present the first cytogenetically analyzed multicystic mesothelioma with the karyotype 46,XX,t(7;17)(p13;q23),t(8;11)(q23;p13). RNA-sequencing showed that the t(7;17)(p13;q23) generated a chimeric TNS3-MAP3K3 gene, which codes for a chimeric protein kinase, as well as the reciprocal MAP3K3-TNS3 in which the region of TNS3 coding for the SH2_Tensin_like region and the tensin phosphotyrosine-binding domain is under the control of the MAP3K3 promoter. The other translocation, t(8;11)(q23;p13), generated a chimeric ZFPM2-ELF5 gene which codes for a chimeric transcription factor in which the first 40 amino acids of ELF5 are replaced by the first 100 amino acids of ZFPM2. RT-PCR together with Sanger sequencing verified the presence of the above-mentioned fusion transcripts. The finding of acquired clonal chromosome abnormalities in cells cultured from the lesion and the presence of the TNS3-MAP3K3 chimeric protein kinase and the ZFPM2-ELF5 chimeric transcription factor confirm the neoplastic nature of multicystic mesothelioma.
Assuntos
Proteínas de Ligação a DNA/genética , MAP Quinase Quinase Quinase 3/genética , Mesotelioma Cístico/genética , Proteínas dos Microfilamentos/genética , Proteínas Proto-Oncogênicas c-ets/genética , Fatores de Transcrição/genética , Translocação Genética , Adulto , Sequência de Bases , Bandeamento Cromossômico , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 7/genética , Cromossomos Humanos Par 8/genética , Diagnóstico Diferencial , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Mesotelioma Cístico/diagnóstico , Mesotelioma Cístico/cirurgia , Dados de Sequência Molecular , Proteínas de Fusão Oncogênica/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sequência de RNA/métodos , TensinasRESUMO
We report on benign multicystic peritoneal mesothelioma in two siblings whose family had a history of multiple familial diseases including diverticulosis. After a genetic evaluation and a chromosomal analysis, we were not able to identify a specific genetic cause of the family's pattern of disease. We assumed that previous surgical procedures and the chronic inflammatory process from diverticulitis were the underlying etiology. Both patients had multiple recurrences with indolent courses similar to those reported in other cases. After the recurrences, one patient was treated with cystic aspiration and the other with hormones. The cysts in both cases regressed partially but the patients were relieved of their clinical symptoms, for 2 years after cystic drainage in one case and for 5 years after hormonal treatment in the other.