Pathology-Driven Diagnosis of Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Clinicopathological and Genetic Analysis of Three Cases.

IF 0.5 Q4 Medicine

IJU Case Reports Pub Date : 2026-09-09 eCollection Date: 2026-09-01 DOI:10.1002/iju5.70259

Tomoko Uchiyama, Shunsuke Okazaki, Sayaka Ando, Maiko Takeda, Makito Miyake, Akihiko Yoshizawa

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Abstract

Introduction: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant disorder characterized by three principal clinical features: cutaneous leiomyomas (cLMs), uterine leiomyomas, and fumarate hydratase (FH)-deficient renal cell carcinoma (RCC). Although 200-300 families have been identified worldwide, its true prevalence remains unknown.

Case presentations: We present three HLRCC cases in which detailed pathological examination raised initial clinical suspicion. Cases 1 and 2 presented with advanced RCC exhibiting diverse morphologies. Case 3 presented with multiple painful cLMs and no renal tumors. All three cases were confirmed via germline genetic testing, which revealed distinct FH mutations.

Conclusions: These cases underscore the importance of careful histopathological and immunohistochemical evaluation for the diagnosis of HLRCC. Multidisciplinary discussion integrating clinical, radiological, pathological, and genetic findings is essential for identifying affected families and initiating timely surveillance.

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病理驱动诊断遗传性平滑肌瘤病和肾细胞癌：3例临床病理和遗传学分析。

简介：遗传性平滑肌瘤病和肾细胞癌（HLRCC）是一种常染色体显性遗传病，以三个主要临床特征为特征：皮肤平滑肌瘤（cLMs）、子宫平滑肌瘤和富马酸水合酶（FH）缺乏的肾细胞癌（RCC）。虽然在世界范围内发现了200-300个家庭，但其真正的流行程度仍不得而知。病例介绍：我们提出了三个HLRCC病例，其中详细的病理检查引起了初步的临床怀疑。病例1和2表现为晚期肾细胞癌，表现出不同的形态。病例3表现为多发疼痛性clm，无肾肿瘤。所有三例病例均通过种系基因检测确诊，结果显示出明显的FH突变。结论：这些病例强调了仔细的组织病理学和免疫组织化学评估对诊断HLRCC的重要性。综合临床、放射学、病理学和遗传学发现的多学科讨论对于确定受影响的家庭和开始及时监测至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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