Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field
Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field
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DOI：
10.1007/s00428-012-1369-x
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发表时间：
2013-03-01
期刊：
影响因子：
3.5
通讯作者：
Wong, K. P.
中科院分区：
文献类型：
--
作者：
Yozu, Masato;Symmans, Pennie;Wong, K. P.
缪尔-托雷综合征是林奇综合征的一种变体，其特征是与内脏恶性肿瘤相关的皮脂腺瘤和/或角化棘皮瘤。Muir-Torre综合征是由错配修复基因之一的生殖系突变引起的，通常是MSH 2，较少是MLH 1和MSH 6。与Muir-Torre综合征和Lynch综合征相关的内脏恶性肿瘤包括结直肠、子宫内膜和其他胃肠道、泌尿系统和妇科恶性肿瘤。少数Lynch综合征相关的软组织肉瘤已有报道，但Muir-Torre综合征中的软组织肉瘤尚无报道。在这项研究中，我们报告了一个74岁的男子与已知的Muir-Torre综合征与确认MSH 2种系突变，诊断为多形性脂肪肉瘤的权利，在以前的辐射领域。免疫组化显示肿瘤中MSH 2和MSH 6表达缺失。另一例无Muir-Torre综合征或Lynch综合征病史的多形性脂肪肉瘤的免疫组化显示错配修复蛋白表达无缺失。这是第一个报告的Muir-Torre综合征相关肉瘤和第一例放射后肉瘤林奇综合征。
Muir-Torre syndrome is a variant of Lynch syndrome, characterised by sebaceous neoplasia and/or keratoacanthomas associated with visceral malignancies. Muir-Torre syndrome is caused by germline mutations of one of the mismatch repair genes, frequently MSH2 and less frequently MLH1 and MSH6. Visceral malignancies associated with Muir-Torre syndrome and Lynch syndrome include colorectal, endometrial and other gastrointestinal, urological and gynaecological malignancies. Small numbers of Lynch syndrome-associated soft tissue sarcomas have been reported, but there are no reported cases of soft tissue sarcomas in Muir-Torre syndrome. In this study, we report a 74-year-old man with known Muir-Torre syndrome with confirmed MSH2 germline mutation, diagnosed with pleomorphic liposarcoma of the right buttock in a previous radiation field. The tumour showed loss of expression of MSH2 and MSH6 on immunohistochemistry. Immunohistochemistry on another pleomorphic liposarcoma in a different patient with no previous history of Muir-Torre syndrome or Lynch syndrome showed no loss of expression of mismatch repair proteins. This is the first report of Muir-Torre syndrome-associated sarcoma and the first case of post-radiation sarcoma in Lynch syndrome.