Grandhi Ramesh, Deibert Christopher P, Pirris Stephen M, Lembersky Barry, Mintz Arlan H
Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Surg Neurol Int. 2013 Apr 12;4:52. doi: 10.4103/2152-7806.110512. Print 2013.
Muir-Torre syndrome (MTS) is an autosomal dominant syndrome characterized by neoplasms of the sebaceous gland or keratoacanthomas, in addition to visceral malignancies. Cerebral neoplasms in patients with hereditary nonpolyposis colorectal cancer (HNPCC) or familial adenomatous polyposis suffer from Turcot's syndrome. Genetic mutations in MutS homolog (MSH)-2, MutL homolog (MLH)-1, and MutS homolog (MSH)-6 DNA mismatch repair genes are the most common in MTS with MSH-2 being the most predominant. In HNPCC MLH-1 and MSH-2 mutations are approximately equal in prevalence.
We present the case of a 58-year-old male with a prior history of being treated for colonic adenocarcinoma and skin lesions leading to a diagnosis of MTS. The patient later developed a World Health Organization (WHO) grade 4 glioma requiring surgical resection. Pathology revealed mutations in MSH-2 and MSH-6 mismatch repair genes.
This case represents the first report of Turcot's and MTS with extensive molecular testing on the cerebral neoplasm demonstrating a molecular relationship between Turcot's and MTS and only the second published report of simultaneous Turcot's and MTS.
穆尔-托雷综合征（MTS）是一种常染色体显性综合征，其特征除了内脏恶性肿瘤外，还包括皮脂腺肿瘤或角化棘皮瘤。遗传性非息肉病性结直肠癌（HNPCC）或家族性腺瘤性息肉病患者发生脑肿瘤则患有图尔科特综合征。MutS同源物（MSH）-2、MutL同源物（MLH）-1和MutS同源物（MSH）-6 DNA错配修复基因的基因突变在MTS中最为常见，其中MSH-2最为主要。在HNPCC中，MLH-1和MSH-2突变的发生率大致相等。
我们报告一例58岁男性患者，既往有结肠腺癌治疗史及皮肤病变，最终诊断为MTS。该患者后来发展为世界卫生组织（WHO）4级神经胶质瘤，需要手术切除。病理检查显示MSH-2和MSH-6错配修复基因发生突变。
本病例是首例对脑肿瘤进行广泛分子检测的图尔科特综合征和MTS报告，证实了图尔科特综合征和MTS之间的分子关系，也是同时患有图尔科特综合征和MTS的第二例已发表报告。
