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p53异常组的低级别子宫内膜样癌:病例报告及诊断问题

Low-grade endometrial endometrioid carcinoma of the p53-abnormal group: case presentation and diagnostic issues.

作者信息

Ronchi Susanna, Di Lauro Eleonora, Facco Carla, Raffone Antonio, Fulgione Caterina, Casarin Jvan, Santoro Angela, Arciuolo Damiano, Angelico Giuseppe, Zannoni Gian Franco, La Rosa Stefano, Travaglino Antonio

机构信息

Pathology Unit, Department of Oncology, ASST Sette Laghi, Varese, Italy.

Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.

出版信息

Pathologica. 2024 Oct;116(5):320-323. doi: 10.32074/1591-951X-1044.

DOI:10.32074/1591-951X-1044
PMID:39748714
Abstract

P53-abnormal endometrial carcinomas are high-grade and aggressive tumors which should be treated with chemo-/radiotherapy. In low-grade endometrioid carcinoma (LGEC), abnormal expression of p53 is an exceptional finding and is typically accompanied by patchy p16 positivity and diffuse hormone receptor expression. Herein, we report a case of LGEC exhibiting both p53 and p16 overexpression, highlighting the diagnostic pitfalls related to such phenotype. A 60-year-old woman underwent hysterectomy and bilateral salpingo-oophorectomy with pelvic lymphadenectomy due to a deeply myoinvasive endometrial mass. The tumor showed glandular architecture, low-grade nuclei and glandular differentiation. Focal lymphovascular space invasion and no lymph node metastases were observed. Immunohistochemically, the tumor showed p53 overexpression, p16 block-type positivity, diffuse hormone receptors positivity and retained mismatch repair proteins expression. No POLE mutations were identified. A diagnosis of p53-abnormal LGEC was eventually made. A glandular neoplasm with p53 and/or p16-overexpression on endometrial biopsy specimens may raise the concern of other entities such as serous carcinoma, HPV-related endocervical adenocarcinoma, and gastric-type adenocarcinoma. An immunohistochemical panel including hormone receptors, p53, p16 and mismatch repair proteins appears necessary for an accurate diagnosis of uterine adenocarcinomas.

摘要

p53异常的子宫内膜癌是高级别侵袭性肿瘤,应采用化疗/放疗。在低级别子宫内膜样癌(LGEC)中,p53异常表达是一种罕见发现,通常伴有局灶性p16阳性和弥漫性激素受体表达。在此,我们报告一例LGEC同时表现出p53和p16过表达的病例,突出了与此种表型相关的诊断陷阱。一名60岁女性因深部肌层浸润性子宫内膜肿块接受了子宫切除术、双侧输卵管卵巢切除术及盆腔淋巴结清扫术。肿瘤呈腺管结构,细胞核级别低,有腺管分化。观察到局灶性淋巴管间隙浸润,无淋巴结转移。免疫组化显示,肿瘤表现为p53过表达、p16块状阳性、弥漫性激素受体阳性且错配修复蛋白表达保留。未发现POLE突变。最终诊断为p53异常的LGEC。子宫内膜活检标本上出现p53和/或p16过表达的腺性肿瘤可能会让人担心是其他实体肿瘤,如浆液性癌、HPV相关的宫颈腺癌和胃型腺癌。对于准确诊断子宫腺癌,包括激素受体、p53、p16和错配修复蛋白的免疫组化检测似乎是必要的。

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