卵巢浆液性边界肿瘤的高级别无性变:嗜酸性细胞质丰富且预后不佳的独特形态

IF 4.5 1区 医学 Q1 PATHOLOGY
American Journal of Surgical Pathology Pub Date : 2024-11-01 Epub Date: 2024-07-19 DOI:10.1097/PAS.0000000000002294
Xiaoming Zhang, Kelly A Devereaux, Emily Ryan, Fei Fei, Christian A Kunder, Teri A Longacre
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引用次数: 0

摘要

卵巢浆液性边界肿瘤(SBTs)的预后一般较好。虽然进展为低级别浆液性癌的风险已得到充分证实,但进展为高级别癌的情况却很少见。我们报告了 7 例 SBT 的临床病理特征,每例都伴有形态独特、预后极差的高级别成分。所有的 SBT 都表现为典型的分层分支和散在的嗜酸性细胞,而高级别部分则由大量上皮样细胞增生组成,这些细胞具有大量致密的嗜酸性胞质、多变的核多形性以及 WT1、雌激素受体和 p16 阳性的明显丧失。在大多数病例中,SBT 会突然过渡到高级别成分,但有一名患者最初表现为普通的 SBT,后来病情复发,完全由高级别成分组成。靶向新一代测序发现,SBT 和高级别部分均存在相同的驱动突变(3 例为 BRAF,1 例为 KRAS),证实了克隆性。此外,有三个病例的两个部分都存在端粒酶逆转录酶启动子突变。有一个病例尽管测序材料不足,但免疫组化结果显示 BRAF V600E 阳性。大多数有随访数据的患者在确诊后9个月内死亡。这项研究证实了之前关于卵巢SBT向高级别癌转化的报道,并进一步描述了一个具有大量致密嗜酸性细胞质和预后极差的独特亚组。这些肿瘤的一个主要亚群存在 BRAF 突变,这对 BRAF 与衰老的嗜酸性细胞和改善 SBT 预后有关的观点提出了质疑。其他端粒酶逆转录酶启动子突变的作用值得进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High-grade Anaplastic Transformation of Ovarian Serous Borderline Tumor: A Distinctive Morphology With Abundant Dense Eosinophilic Cytoplasm and Dismal Prognosis.

Ovarian serous borderline tumors (SBTs) have a generally favorable prognosis. Although the risk of progression to low-grade serous carcinoma is well documented, progression to high-grade carcinoma is rare. We report the clinicopathologic features of seven SBTs, each associated with the presence of a morphologically unique high-grade component with an extremely dismal prognosis. All of the SBTs exhibited typical hierarchical branching and scattered eosinophilic cells, whereas the high-grade component consisted of a profuse proliferation of epithelioid cells with abundant dense, eosinophilic cytoplasm, variable nuclear pleomorphism, and evident loss of WT1, estrogen receptor, and p16 positivity. In most cases, the SBT demonstrated an abrupt transition to the high-grade component, but one patient initially presented with the usual SBT and developed a recurrent disease that was composed entirely of the high-grade component. Targeted next-generation sequencing revealed identical driver mutations in both the SBT and high-grade components ( BRAF in 3, KRAS in 1), confirming clonality. Three cases, in addition, harbored telomerase reverse transcriptase promoter mutations in both components. One case, despite insufficient material for sequencing, was BRAF V600E-positive by immunohistochemistry. Most patients with available follow-up data died within 9 months of diagnosis. This study confirms prior reports of ovarian SBT transformation to high-grade carcinoma and further characterizes a distinct subset with abundant dense eosinophilic cytoplasm and an extremely dismal prognosis. The presence of BRAF mutations in a major subset of these tumors questions the notion that BRAF is associated with senescent eosinophilic cells and improved outcomes in SBT. The role of the additional telomerase reverse transcriptase promoter mutations merits further investigation.

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来源期刊
CiteScore
10.30
自引率
5.40%
发文量
295
审稿时长
1 months
期刊介绍: The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities. Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.
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