Open AccessHereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature
Author(s) -
Natalia Ferreira,
Oliveira Tiago,
Pedro Oliveira,
Sandro Gaspar
Publication year - 2018
Publication title -
urology annals
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.355
H-Index - 20
eISSN - 0974-7834
pISSN - 0974-7796
DOI - 10.4103/ua.ua_95_17
Subject(s) - leiomyomatosis , medicine , pathological , renal cell carcinoma , genetic counseling , clinical phenotype , pathology , disease , leiomyoma , phenotype , biochemistry , chemistry , genetics , gene , biology
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder in which the affected individuals tend to develop cutaneous leiomyomas, uterine leiomyomas, and renal cell cancer (RCC). Within the spectrum of this syndromic disease, RCC is the most severe manifestation, occurring at a younger age compared to the sporadic form. Pathological suspicion or diagnosis of HLRCC is critical for appropriate clinical management and genetic counseling of the affected family members. In this study, we report the case of a 27-year-old misdiagnosed carrier of HLRCC phenotype, who presented with a large solitary Type II papillary RCC.