Morphological diversity in SDH-deficient renal carcinomas: a three-case exploration of variant features and dedifferentiation.

IF 3.4 3区医学 Q1 PATHOLOGY

Virchows Archiv Pub Date : 2024-11-20 DOI:10.1007/s00428-024-03978-3

Fanni Sánta, Antranik Dabaghian, Boglárka Pósfai, Béla Vasas, László Kaizer, Alex Jenei, Bálint Scheich, Vanda Téglási, Zoltán Sápi, Krisztina Bíró, Anikó Maráz, Mavrogenis Stelios, Henriett Butz, Petr Martínek, Kristýna Pivovarčíková, Zsombor Melegh, Mahmut Akgul, Levente Kuthi

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引用次数: 0

Abstract

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare subtype of renal neoplasm predominantly affecting younger individuals. It is characterized by germline mutations in SDHx genes, particularly type B. Histologically, SDH-deficient RCC features eosinophilic cytoplasmic cells forming solid nests or microcysts, sometimes entrapping normal tubules. We present three SDH-deficient RCC cases with overlapping morphological features with fumarate hydratase-deficient RCC and TFEB-rearranged RCC, an appearance that has not been previously described. All tumors lacked SDHB expression and harbored pathogenic SDHB mutations, with the germline nature confirmed in two cases. Metastasis developed in two patients. Our case set highlights the diagnostic challenges of molecularly defined renal tumors and expands the morphological spectrum of SDH-deficient RCC with unusual histological features. Clinically, these tumors appear to be aggressive.

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SDH缺陷型肾癌的形态多样性：对变异特征和去分化的三例探索。

琥珀酸脱氢酶（SDH）缺陷型肾细胞癌（RCC）是一种罕见的肾肿瘤亚型，主要影响年轻人。组织学上，SDH缺陷型RCC的特征是嗜酸性胞浆细胞形成实性巢或微囊，有时会包绕正常的肾小管。我们介绍了三例SDH缺陷型RCC病例，它们与富马酸水解酶缺陷型RCC和TFEB重排型RCC在形态学特征上有重叠，这种表现以前从未描述过。所有肿瘤均缺乏SDHB表达，并携带致病性SDHB突变，其中两例证实为种系突变。两名患者发生了转移。我们的病例组凸显了分子定义肾肿瘤的诊断挑战，并扩展了具有不寻常组织学特征的SDH缺陷型RCC的形态学谱系。在临床上，这些肿瘤似乎具有侵袭性。

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来源期刊

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.