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

Source: PubMed Central Open Access, NCBI / U.S. National Library of Medicine

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. iju570259-sec-0001 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 distinctmutations. iju570259-sec-0002 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. iju570259-sec-0003 Keynote Message Although aggressive non‐clear cell RCC should prompt consideration of FH‐deficient RCC, HLRCC may remain under‐recognized when patients initially present only with cutaneous and/or uterine leiomyomas. Detailed microscopic and IHC examination of resected tumors serves as the critical first trigger for diagnosis. highlights iju570259-abs-5002