Clinical characteristics of elderly patients with Lynch syndrome-associated endometrial cancer and analysis of MSH2 gene variation in their families / 中华老年医学杂志

ABSTRACT

Objective:To study the clinical characteristics of Lynch syndrome-associated endometrial cancer in elderly patients and the relationship of the disease with MSH2 gene mutations in patients' families.Methods:Clinical data of 473 elderly patients with endometrial cancer admitted to our hospital between January 2016 and January 2021 were retrospectively analyzed.MSH2 gene mutations were detected and verified by DNA sequence analysis, real-time quantitative PCR and reverse transcription PCR.Patients were divided into a Lynch syndrome group and a non-Lynch syndrome group, and the clinicopathological features of the two groups were compared.Results:Of 473 endometrial carcinoma patients, 46(9.7%)had embryogenic mutations of the MMR gene and were diagnosed with Lynch syndrome, with 18, 6, 24 and 10 patients carrying MLH1, PMS2, MSH2 and MSH6 mutations, respectively.There were 3 mutations in the MSH2 gene, including exon 7 1380C>A, exon 12 2011A>G and exon 13 2756A→AC.The proportions of patients with G3 grade endometrioid adenocarcinoma, lower uterine segment involvement and a history of Lynch syndrome-associated malignant tumors in the Lynch syndrome group were significantly higher than those in the non-Lynch syndrome group( χ2=8.935, 8.303, 9.770, all P<0.05). Conclusions:Poorly differentiated endometrioid adenocarcinoma, predisposition to lower uterine segment involvement and familial inheritance are the main clinical manifestations of Lynch syndrome-associated endometrial carcinoma in elderly patients, with the most common mutations seen in the MSH2 gene.