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[穆尔-托雷综合征患者的眼睑皮脂腺肿瘤]

[Sebaceous tumors of the eyelids in a patient with Muir-Torre syndrome].

作者信息

Bertholom J L, Guyomard J L, Stock N, Dugast C, Martinel C, Chatel M A, Charlin J F

机构信息

Service d'Ophtalmologie, CHU, Rennes.

出版信息

J Fr Ophtalmol. 2006 Jun;29(6):654-8. doi: 10.1016/s0181-5512(06)73827-x.

Abstract

Muir-Torre syndrome is an autosomal dominant hereditary condition predisposing to cancer. It is characterized by cutaneous tumors (such as sebaceous adenomas, epitheliomas, or carcinoma, and/or keratoacanthomas) and internal malignancies. A 47-year-old male patient with cancer antecedents consulted for two tumors of the eyelid. Histological study of the exeresis biopsies of the eyelid lesions showed a sebaceous adenoma and an epidermoid carcinoma with sebaceous differentiation. With the suspicion of Muir-Torre syndrome, a genetic consultation was requested. The geneticist found a mutation of the MSH2 gene, which was not classified as pathological. Cancer screening was begun for the patient and his descendants. The clinical outcome was death from urothelial carcinoma. Eyelid sebaceous tumors require complete medical check-up in search of carcinoma. Demonstrating Muir-Torre syndrome allows the medical team to propose early cutaneous and visceral carcinoma screening for patients, their collaterals, and their descendants.

摘要

穆尔-托雷综合征是一种常染色体显性遗传性疾病,易患癌症。其特征为皮肤肿瘤(如皮脂腺腺瘤、上皮瘤或癌,和/或角化棘皮瘤)以及内部恶性肿瘤。一名有癌症病史的47岁男性患者因眼睑出现两个肿瘤前来咨询。对眼睑病变切除活检的组织学研究显示为皮脂腺腺瘤和具有皮脂腺分化的表皮样癌。因怀疑患有穆尔-托雷综合征,遂要求进行基因咨询。遗传学家发现了MSH2基因的一个突变,该突变未被归类为病理性突变。对该患者及其后代开始进行癌症筛查。临床结局是患者死于尿路上皮癌。眼睑皮脂腺肿瘤需要进行全面的医学检查以排查癌症。确诊穆尔-托雷综合征可使医疗团队为患者、其旁系亲属及其后代提议早期皮肤和内脏癌筛查。

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