MLH1 c.199G>A, a Known Mutation for Lynch Syndrome, Is Also Associated with Sebaceous Neoplasm
Introduction::Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by a predisposition for the development of visceral malignant disease and sebaceous gland neoplasms, and it is caused by germline mutations in the mismatch repair genes
MSH2 and
MLH1.
Case presentation::The proband was a 42-year-old man who had undergone surgical resection of colorectal adenocarcinoma at 28 years. He presented with macular rashes and red papule. Histological examination of the lesion on his head revealed a sebaceoma at 37 years. Follow-up of the family history revealed that the proband’s 65-year-old mother had been highly suspected to have Lynch syndrome with colorectal cancer at 40 years of age. The proband’s daughter underwent colonoscopy because of blood in the stool at the age of 13 years, but no abnormalities were found.Discussion::We have herein reported a pathogenic missense mutation c.199G>A (p.Gly67Arg) in exon 2 of
MLH1 in patients with MTS. This mutation has been reported in patients with Lynch syndrome who have no skin tumors. However, we also found that some patients with MTS had no history of any internal malignancy or skin tumor. Our data support the idea that a hiatus of many years may pass before both elements-a sebaceous neoplasm and an internal cancer-are present in a patient, thus finally allowing the diagnosis of MTS.
Conclusion::A pathogenic Lynch syndrome mutation c.199G>A in exon 2 of the
MLH1 gene was found in a patient with MTS who presented with a sebaceous neoplasm.
case report、MLH1 gene 、Muir-Torre syndrome、mutation、sebaceous neoplasm
04
National Natural Science Foundation of ChinaNos. 31401071 and 81570960
2023-05-30（万方平台首次上网日期，不代表论文的发表时间）
共3页
94-96
