کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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5716420 | 1606668 | 2018 | 5 صفحه PDF | دانلود رایگان |
Germline mutations in the fumarate hydratase (FH) gene classically lead to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome. Patients with HLRCC typically exhibit multiple cutaneous and uterine leiomyomas at a young age. They also display a 20-30% lifetime risk for renal carcinomas, which commonly present before 40Â years of age, have a distinct papillary morphology, and an aggressive phenotype. However, the clinical presentation of HLRCC and the morphology of HLRCC-associated renal cell carcinomas (RCCs) can be variable and thereby evade diagnosis. Here, we present two cases of HLRCC-associated RCC to emphasize this point. The first case is typical of HLRCC, involving a 29-year-old man with multiple cutaneous leiomyomas and a renal tumor with characteristic papillary morphology. Next, we describe a 48-year-old man presenting with metastatic cancer of unknown primary origin and no skin findings. Interestingly, next-generation sequencing of his metastatic tumor identified two unique FH mutations. In both cases, FH mutations were confirmed as germline. These cases highlight the variable presentations of HLRCC-associated RCC and underscore the importance of screening tumors of unknown origin for FH mutations using next-generation sequencing.
Journal: Human Pathology: Case Reports - Volume 11, March 2018, Pages 1-5