Gupta Aanchal, Vasileva Alisa, Manthri Sukesh
Internal Medicine, St. Martinus University Faculty of Medicine, Willemstad, CUW.
Research, Ballad Health, Johnson City, USA.
Cureus. 2021 Sep 29;13(9):e18380. doi: 10.7759/cureus.18380. eCollection 2021 Sep.
Malignant mesotheliomas (MM), as described are rare tumors that are mostly associated with occupational exposure to asbestos. They most commonly occur in the pleura. Other unfamiliar sites where they can occur are the peritoneum, pericardium, and tunica vaginalis. There is no significant correlation between the amount and duration of asbestos exposure to mesothelioma development as reported by various studies over the years. Apart from the environmental exposure, the development of malignant mesothelioma has been linked to a mutation in the BAP1 gene, which can predispose the patient to develop other malignancies associated with BAP1 mutation. We report a case of a 43-year-old man without any significant risk factors, who presented with a complaint of abdominal discomfort and was found to have malignant peritoneal mesothelioma (MPM). With a known familial history of mesothelioma and melanoma, our patient underwent genetic testing which revealed a mutation in BAP1, affirming the strong association with the development of MPM. Young patients who develop malignant mesothelioma without risk factors for MM should have germline testing for BAP1. This case report is unique and highlights a familial variant of mesothelioma, even rare with peritoneal mesothelioma in our patient.
如前所述，恶性间皮瘤（MM）是罕见肿瘤，大多与职业性接触石棉有关。它们最常发生于胸膜。其他不常见的发病部位包括腹膜、心包和鞘膜。多年来的各种研究报告显示，石棉接触量和接触时长与间皮瘤的发生之间并无显著关联。除环境暴露外，恶性间皮瘤的发生还与BAP1基因突变有关，该突变会使患者易患其他与BAP1突变相关的恶性肿瘤。我们报告一例43岁男性病例，该患者无任何显著风险因素，因腹部不适就诊，被诊断为恶性腹膜间皮瘤（MPM）。鉴于患者有间皮瘤和黑色素瘤家族史，我们对其进行了基因检测，结果显示BAP1基因突变，证实了该突变与MPM发生之间的紧密关联。无MM风险因素却发生恶性间皮瘤的年轻患者应进行BAP1种系检测。本病例报告具有独特性，凸显了间皮瘤的一种家族性变体，在我们的患者中，即使是腹膜间皮瘤也很罕见。
