宫体POLE突变型内膜样癌合并HPV感染相关性宫颈腺癌1例报道及文献回顾

Uterine POLE mutant endometrioid carcinoma combined with human papilloma virus-associated cervical adenocarcinoma:A case report and literature review

临床上,在不同部位同时发现多个恶性肿瘤病灶常被认为是某一部位原发肿瘤继发累及多个部位的结果,两个或多个原发性肿瘤同步出现的情况罕见,且相关类型及相关起源肿瘤的鉴别具有较大难度,给临床病理诊断造成困扰。此类情况在女性生殖系统尤为突出,在实际工作中,虽然可以联合应用临床表现、影像学资料、形态学特征、免疫组织化学甚至分子检测等手段,但对于某些发生在子宫的腺癌,仍不能确定其原发部位是内膜还是宫颈,即使在全切子宫的情况下仍是如此。由于此类肿瘤的治疗及预后均有很大差异,因此精准鉴别十分必要。本文报道1例同步发生的宫体内膜样癌和宫颈来源的人乳头状瘤病毒(human papilloma virus,HPV)感染相关性宫颈腺癌(HPV-associated cervical adenocarcinoma,HPVA-CA)患者并进行相关文献回顾,以期深入分析此类较罕见病例,同时对鉴别诊断、治疗及预后等相关问题进行探讨。

Independent primary uterine and cervical adenocarcinoma are rare and difficult to identify their origins,which makes treatment decision difficult.A 46-year-old female with endometrioid carcinoma and adenocarcinoma,human papilloma virus(HPV)-associated of the uterine cervix was reported.The patient presented with increased menstrual flow,contact bleeding and watery leucorrhea for more than one year,and the imaging findings showed abnormal uterine morphology,irregular margins,and multiple abnormal signals in uterine cavity and myometrium,which suggested multiple leiomyomas of the uterus.The signal intensity in the right muscle layer was markedly enhanced,suggesting a smooth muscle tumor of uncertain malignant potential.A large number of cystic hypointensity was seen in the cervix,and multiple cysts were considered.The initial preoperative diagnosis was multiple leiomyoma of the uterus,and a hysterectomy operation was planned.During the operation,the uterus was sent for frozen sections.There was a mass in the endometrium of the fundus,with a soft grayish-red cut surface and a clear border with the myometrium,and there was a grayish-white nodule in the cervix with a hard grayish-white cut surface.The two masses were well demarcated from each other,and the distance between them was 30 mm.The result of the frozen sections indicated the malignant tumor of the endometrium,and the extended hysterectomy+pelvic lymphadenectomy+partial resection of the greater omentum was performed.After the operation,the paraffin sections were sent to the Department of Pathology of the Peking University Third Hospital for histochemistry,POLE gene sequencing and HPV RNAscope tests,and the final diagnosis was a synchronous endometrioid carcinoma(POLE-mutant according to the WHO classification)and an adenocarcinoma,HPV-associated of the uterine cervix.Now the patient had been treated with 2 cycles of chemotherapy and her condition was fine.Through the analysis of the histological,immunohistochemical and molecular detection results of this case,the importance of applying HPV RNAscope and TCGA molecular typing in the diagnosis of cervical adenocarcinomas and endometrial carcinomas was emphasized.At the same time,gynecologists should not blindly rely on intraoperative frozen sections,and should pay attention to preoperative pathological examination,and make appropriate operation methods according to the results in order to prevent passivity in the surgery.