Du Yingying, Shang Yu, Shi Chang
Department of Pathology, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, China.
Front Oncol. 2025 Jul 3;15:1586283. doi: 10.3389/fonc.2025.1586283. eCollection 2025.
Fumarate hydratase deficiency-associated renal cell carcinoma (FH-RCC) is a rare, aggressive subtype of renal cell carcinoma (RCC) driven by FH gene mutations. Its non-specific imaging features and heterogeneous pathological morphology complicate early diagnosis. This case report describes the cytological evaluation of peritoneal fluid from a 35-year-old male with FH-RCC, highlighting distinct cellular features within the effusion. These findings provide insights into the clinicopathological differential diagnosis of serous cavity effusions, potentially enhancing the recognition and management of this uncommon malignancy.
富马酸水合酶缺乏相关肾细胞癌(FH-RCC)是一种由FH基因突变驱动的罕见、侵袭性肾细胞癌(RCC)亚型。其非特异性影像学特征和异质性病理形态使早期诊断复杂化。本病例报告描述了一名35岁FH-RCC男性患者腹腔积液的细胞学评估,突出了积液内独特的细胞特征。这些发现为浆液性腔隙积液的临床病理鉴别诊断提供了见解,可能提高对这种罕见恶性肿瘤的识别和管理。