Suspiro A, Fidalgo P, Cravo M, Albuquerque C, Ramalho E, Leitão C N, Costa Mira F
Serviço de Gastroenterologia and Centro de Patobiologia Molecular, Instituto Português de Oncologia Francisco Gentil, Lisboa.
Am J Gastroenterol. 1998 Sep;93(9):1572-4. doi: 10.1111/j.1572-0241.1998.00487.x.
The Muir-Torre syndrome is a rare autosomal dominant disorder characterized by the association of visceral malignancies with typical skin lesions. This syndrome is now considered a subtype of the more common hereditary nonpolyposis colorectal cancer syndrome (HNPCC). This last condition has been ascribed to mutations in four mismatch repair genes, and similar mutations, mostly located at hMSH2 gene, are now being described in some Muir-Torre patients. We describe the case of a 64-yr-old woman with no family history of colorectal cancer, who developed two visceral malignancies belonging to the usual spectrum of hereditary nonpolyposis colorectal cancer (colon and stomach), beginning at age 41. She additionally developed several skin tumors, including multiple keratoacanthomas, thus fulfilling Muir-Torre diagnostic criteria. Because of her cutaneous phenotype, she was screened for DNA mismatch repair gene mutations by in vitro synthetized protein assay (IVSP) and a truncating mutation was identified at hMSH2. We further discuss the clinical significance of the Muir-Torre phenotype, the association of this syndrome with hMSH2 mutations and the important implications of genetic diagnosis for the patient and her offspring.
穆尔-托雷综合征是一种罕见的常染色体显性疾病，其特征是内脏恶性肿瘤与典型皮肤病变相关。该综合征现被认为是更常见的遗传性非息肉病性结直肠癌综合征（HNPCC）的一种亚型。后者已归因于四个错配修复基因的突变，现在在一些穆尔-托雷综合征患者中也发现了类似的突变，这些突变大多位于hMSH2基因。我们描述了一例64岁无结直肠癌家族史的女性病例，她在41岁时出现了两种属于遗传性非息肉病性结直肠癌常见谱系的内脏恶性肿瘤（结肠和胃）。她还出现了多种皮肤肿瘤，包括多个角化棘皮瘤，从而符合穆尔-托雷综合征的诊断标准。由于其皮肤表型，通过体外合成蛋白测定法（IVSP）对她进行了DNA错配修复基因突变筛查，并在hMSH2基因中发现了一个截短突变。我们进一步讨论了穆尔-托雷综合征表型的临床意义、该综合征与hMSH2基因突变的关联以及基因诊断对患者及其后代的重要影响。
