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对一名非肌层浸润性子宫浆液性癌局限于息肉且腹膜冲洗液中存在体细胞ARHGAP35和KRAS突变的患者的评估。

Evaluation of a Patient With Non-Myoinvasive Uterine Serous Carcinoma Confined to a Polyp and Positive Peritoneal Washings With Somatic ARHGAP35 and KRAS Mutations.

作者信息

Silverwood Sierra M, Lagstein Amir, Risinger John I, Gressel Gregory

机构信息

Medical Education, Michigan State University College of Human Medicine, Grand Rapids, USA.

Pathology, Spectrum Health Medical Group, Grand Rapids, USA.

出版信息

Cureus. 2022 Jul 8;14(7):e26663. doi: 10.7759/cureus.26663. eCollection 2022 Jul.

DOI:10.7759/cureus.26663
PMID:35949786
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9357428/
Abstract

Currently, the application of peritoneal washings as a diagnostic tool for endometrial cancer staging is not well defined. The case described aims to highlight the current ambiguity surrounding the use of peritoneal washings in clinical practice.  A 69-year-old G3P3003 presented to her gynecologist with complaints of new-onset heavy vaginal bleeding. The patient sought an endometrial biopsy, which suggested serous endometrial intraepithelial carcinoma (EIC) focally suspicious for invasive carcinoma, with the involvement of polyps. Based on these results, a robotic-assisted total laparoscopic hysterectomy, bilateral salpingo-oophorectomy, bilateral sentinel lymph node dissection, and omentectomy were performed. Results from her final pathology exhibited a stage IA uterine serous carcinoma (USC) involving a polyp (4.2 cm in greatest dimension) with no myometrial or lymphovascular invasion, but washings were positive for adenocarcinoma. Based on her family history of malignancy, the patient underwent germline panel testing. The patient's somatic tumor testing demonstrated proficient DNA mismatch repair status, microsatellite stability, low tumor mutational burden (4 mut/Mb), low loss of heterozygosity (9%), amplification of the ERBB2 (HER2/neu) gene by both immunohistochemistry (3+, 20% positive) and fluorescence in-situ hybridization. Her tumor also had weakly positive estrogen receptor expression (1+, 10% positive); furthermore, some pathogenic variants in KRAS (c.37G>T), PIK3CA (c.263G>A), and TP53 (c.743G>A) were identified. Given the incongruent findings found with the positive peritoneal washing and negative lymph node involvement in addition to molecular testing, management for this patient was unclear. Ultimately, this case highlights a number of advances within the field of gynecological oncology but also emphasizes the persistent ambiguity and incongruency in the management of patients with early-stage high-risk histologies. Moving forward it will become increasingly important to be able to develop a more standardized process to assess how these diagnostic tools should inform prognosis and treatment plans.

摘要

目前,腹膜冲洗液作为子宫内膜癌分期诊断工具的应用尚未明确界定。所描述的病例旨在突出当前临床实践中腹膜冲洗液使用方面的模糊性。一名69岁、孕3产3(G3P3)003的女性因新发大量阴道出血就诊于妇科医生。患者接受了子宫内膜活检,结果提示局灶性浆液性子宫内膜上皮内癌(EIC),高度怀疑为浸润性癌,伴有息肉累及。基于这些结果,实施了机器人辅助全腹腔镜子宫切除术、双侧输卵管卵巢切除术、双侧前哨淋巴结清扫术和大网膜切除术。最终病理结果显示为IA期子宫浆液性癌(USC),累及一个息肉(最大径4.2 cm),无肌层或淋巴管浸润,但冲洗液腺癌检测呈阳性。鉴于患者有恶性肿瘤家族史,遂进行了胚系基因检测。患者的体细胞肿瘤检测显示DNA错配修复状态良好、微卫星稳定、肿瘤突变负荷低(4个突变/Mb)、杂合性缺失率低(9%),免疫组化(3+,20%阳性)和荧光原位杂交均显示ERBB2(HER2/neu)基因扩增。其肿瘤雌激素受体表达也呈弱阳性(1+,10%阳性);此外,还鉴定出KRAS(c.37G>T)、PIK3CA(c.263G>A)和TP53(c.743G>A)的一些致病变异。鉴于腹膜冲洗液阳性与淋巴结阴性受累以及分子检测结果不一致,该患者的治疗方案尚不明确。最终,该病例凸显了妇科肿瘤学领域的一些进展,但也强调了早期高危组织学类型患者管理中持续存在的模糊性和不一致性。展望未来,能够制定一个更标准化的流程来评估这些诊断工具如何为预后和治疗计划提供信息将变得越来越重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d84/9357428/e4e0c83e0ca6/cureus-0014-00000026663-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d84/9357428/d56c4998cc15/cureus-0014-00000026663-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d84/9357428/6477acc89ab6/cureus-0014-00000026663-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d84/9357428/e4e0c83e0ca6/cureus-0014-00000026663-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d84/9357428/d56c4998cc15/cureus-0014-00000026663-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d84/9357428/6477acc89ab6/cureus-0014-00000026663-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d84/9357428/e4e0c83e0ca6/cureus-0014-00000026663-i03.jpg

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