Morphomolecular Correlation and Clinicopathologic Analysis in Endometrial Carcinoma.

IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY International Journal of Gynecological Pathology Pub Date : 2024-11-01 Epub Date: 2024-07-08 DOI:10.1097/PGP.0000000000001013
Göksenil Bülbül, Tekincan Çağri Aktaş, Anil Aysal Ağalar, Safiye Aktaş, Sefa Kurt, Bahadir Saatli, Emine Çağnur Ulukuş
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Abstract

Research groups have identified 4 groups [polymerase epsilon (POLE) mutant, mismatch repair-deficient, p53-abnormal, and no specific molecular profile)] reflecting the Tumor Cancer Genomic Atlas Research Network subgroups in endometrial carcinomas, improving the clinical applicability of molecular classification. We have analyzed the histopathologic and prognostic characteristics of our cases based on the ProMisE classification, supported by growing data on recommended treatment regimens. The study included 118 cases of endometrial carcinoma diagnosed between 2016 and 2020, which underwent mismatch repair and p53 immunohistochemistry. Next-generation sequencing was performed for POLE mutation analysis, dividing the cases into 4 subgroups. The histopathologic and clinical characteristics of these groups were then analyzed statistically. Four cases(3.4%) were classified as POLE mutant, 31 (26.3%) as mismatch repair-deficient, 22 (18.6%) as p53 mutant, and 61 (51.7%) as no specific molecular profile. We categorized 118 patients with endometrial carcinoma into low (n=43), intermediate (n=28), high-intermediate (n=21), high (n=22), and advanced metastatic (n=4) risk groups regardless of the molecular subtypes of their disease. When we reclassified all cases according to the molecular subtypes of endometrial carcinoma only the risk group of 3 (2.5%) cases changed. Using the new algorithm we designed, after narrowing down the number of patients, the microcystic, elongated, and fragmented pattern of invasion was revealed as an independent prognostic factor that reduces overall survival time (hazard ratio: 16.395, 95% CI: 2.140-125.606, P =0.007). In conclusion, using the new algorithm we have designed, and by identifying patients for whom molecular classification could alter risk groups, we observed that molecular tests can be utilized more efficiently in populations with limited economic resources and, in doing so, we discovered a new morphologic marker with prognostic significance.

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子宫内膜癌的形态分子相关性和临床病理学分析
研究小组已在子宫内膜癌中确定了反映肿瘤基因组图谱研究网络亚组的 4 个组别[聚合酶ε(POLE)突变、错配修复缺陷、p53 异常和无特定分子特征],从而提高了分子分类的临床适用性。我们根据 ProMisE 分类分析了病例的组织病理学和预后特征,并辅以越来越多的推荐治疗方案数据。研究纳入了2016年至2020年间确诊的118例子宫内膜癌病例,对其进行了错配修复和p53免疫组化。研究人员进行了新一代测序以分析POLE突变,并将病例分为4个亚组。然后对这些分组的组织病理学和临床特征进行了统计分析。4例(3.4%)为POLE突变,31例(26.3%)为错配修复缺陷,22例(18.6%)为p53突变,61例(51.7%)无特定分子特征。我们将 118 名子宫内膜癌患者分为低危(43 人)、中危(28 人)、高危(21 人)、高危(22 人)和晚期转移(4 人),而不考虑其疾病的分子亚型。当我们根据子宫内膜癌的分子亚型对所有病例进行重新分类时,只有 3 例(2.5%)病例的风险组别发生了变化。使用我们设计的新算法,在缩小患者数量后,发现微囊状、拉长和碎裂的浸润模式是降低总生存时间的独立预后因素(危险比:16.395,95% CI:2.140-125.606,P=0.007)。总之,通过使用我们设计的新算法,并通过识别分子分类可改变风险组别的患者,我们观察到,在经济资源有限的人群中,分子检测可得到更有效的利用,同时,我们还发现了一种具有预后意义的新的形态学标志物。
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来源期刊
CiteScore
3.90
自引率
12.50%
发文量
154
审稿时长
6-12 weeks
期刊介绍: International Journal of Gynecological Pathology is the official journal of the International Society of Gynecological Pathologists (ISGyP), and provides complete and timely coverage of advances in the understanding and management of gynecological disease. Emphasis is placed on investigations in the field of anatomic pathology. Articles devoted to experimental or animal pathology clearly relevant to an understanding of human disease are published, as are pathological and clinicopathological studies and individual case reports that offer new insights.
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