The frequency of Muir-Torre syndrome among lynch syndrome families
The frequency of Muir-Torre syndrome among lynch syndrome families
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DOI：
10.1093/jnci/djm291
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发表时间：
2008-02-20
期刊：
影响因子：
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通讯作者：
de la Chapelle, Albert
中科院分区：
文献类型：
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作者：
South, Christopher D.;Hampel, Heather;de la Chapelle, Albert
Lynch综合征是内脏恶性肿瘤的易感性，与DNA错配修复基因（包括MLH 1、MSH 2、MSH 6和PMS 2）中的有害种系突变相关。Muir-Torre综合征是Lynch综合征的一种变体，包括某些皮肤肿瘤的易感性。我们确定了50个Lynch综合征家族中Muir-Torre综合征的频率，这些家族是从一系列新诊断为结直肠癌或子宫内膜癌的癌症患者中确定的。Muir-Torre综合征相关皮肤肿瘤的病史在家庭成员咨询期间记录。Muir-Torre综合征见于50个家族中的14个（28%）和152个Lynch综合征患者中的14个（9.2%）。MLH 1突变的9个家族中有4个（44%）有Muir-Torre综合征的成员，而MSH 2突变的24个家族中有10个（42%）（P = .302）。携带c.942+3A > T MSH 2基因突变的家族比携带其他MSH 2基因突变的家族有更高的Muir-Torre综合征频率（75% vs 25%; P = .026）。Muir-Torre综合征在MSH 6或PMS 2基因突变的家族中未发现。我们的结果表明缪尔-托雷综合征只是林奇综合征的一种变体。建议在Lynch综合征患者中筛查Muir-Torre综合征相关的皮肤病变。
Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2. Muir-Torre syndrome is a variant of Lynch syndrome that includes a predisposition to certain skin tumors. We determined the frequency of Muir-Torre syndrome among 50 Lynch syndrome families that were ascertained from a population-based series of cancer patients who were newly diagnosed with colorectal or endometrial carcinoma. Histories of Muir-Torre syndrome-associated skin tumors were documented during counseling of family members. Muir-Torre syndrome was observed in 14 (28%) of 50 families and in 14 (9.2%) of 152 individuals with Lynch syndrome. Four (44%) of nine families with MLH1 mutations had a member with Muir-Torre syndrome compared with 10 (42%) of 24 families with MSH2 mutations (P = .302). Families who carried the c.942+3A > T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026). Muir-Torre syndrome was not found in families with mutations in the MSH6 or PMS2 genes. Our results suggest that Muir-Torre syndrome is simply a variant of Lynch syndrome. Screening for Muir-Torre syndrome-associated skin lesions among patients with Lynch syndrome is recommended.