1例子宫腺肌症癌变合并直肠癌林奇综合征临床病理观察及文献复习

Clinicopathological features of uterine adenomyosis with cancerous transformation and rectal adenocarcinoma(Lynch syndrome):report of one case and review of literature

目的探讨1例同时患有直肠癌和子宫腺肌症癌变林奇综合症患者的诊断筛查过程、临床病理及分子特征。方法分析1例同时患有直肠癌和子宫腺肌症癌变的林奇综合征患者临床、病理及影像资料,采用相应林奇筛查技术检测,并进行文献复习。结果患者女,80岁,便血2年入院,肠镜活检经病理确诊为直肠中分化腺癌。同时盆腔B超及CT提示子宫上缘巨大囊性占位,术后送检直肠癌根治标本及盆腔肿物,病理结合影像检查证实盆腔囊性占位为来源于子宫腺肌症癌变的高分化子宫内膜样腺癌。免疫组化显示直肠癌和子宫内膜癌均为错配修复蛋白MSH6表达缺失,MSI检测呈MSS,外周血MMR胚系突变检测为可能致病变异(c.3646+1G>T)。确诊为林奇综合征先证者。患者家族中多人患有结直肠癌及其他林奇相关肿瘤。结论子宫腺肌症癌变非常少见,作为林奇综合征相关肿瘤出现则更为罕见。针对以不同肿瘤及癌前病变为临床表现,以及具有不同分子病理特征的林奇综合征应提高筛查敏感性,为其家系成员进行临床筛查和预防性干预提供依据和指导。

Objective To investigate the diagnostic and screening processes,clinicopathological and molecular features of Lynch syndrome(LS)with endometrioid adenocarcinoma arising from adenomyosis and rectal cancer.Methods The clinical,pathological and imaging data of 1 female patient with LS related endometrioid adenocarcinoma arising from adenomyosis complicated with rectal cancer were analyzed.The LS detection technology was used for screening and literature review was also carried out.Results The patient,80 years old,was admitted to the hospital with bloody stool 2 years ago.Colonoscopic biopsy was pathologically confirmed to be a moderately differentiated adenocarcinoma of the rectum.At the same time,pelvic B-ultrasound and CT indicated a huge cystic mass in the upper margin of the uterus.Postoperative rectal cancer radical specimens and pelvic space were examined.Pathologic and imaging examination confirmed the pelvic cystic mass as a highly differentiated endometrioid adenocarcinoma from adenomyosis.Immunohistochemistry showed that MSH6 expression of mismatch repair protein was missing in both rectal cancer and endometrial cancer,and MSI detection showed MSS.Peripheral blood MMR germline mutation detection results were potentially pathogenic mutations(c.3646+1 G>T).She was diagnosed as a proband of LS.Many of the patients had colorectal cancer and other LS related tumor in their families.Conclusion Adenomyosis canceration is very rare,and LS related carcinoma is even more rare.For LS with different tumor and precancerous lesions as clinical manifestations,and with different molecular pathological features,the screening sensitivity should be improved to provide a basis and guidance for clinical screening and preventive intervention of the family members.