Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review.
Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare genetic disorder that predisposes individuals to multiple cutaneous leiomyomas, renal cell carcinomas, and in women, uterine leiomyomas. Also known as Reed syndrome, it is caused by a germline heterozygous mutation of the fumarate hydratase tumor suppressor gene. HLRCC is associated with significant morbidity because of pain from cutaneous and uterine leiomyomas, the cutaneous pain often of unique character. Although genetic testing is currently considered the criterion standard to diagnose HLRCC, newer immunohistochemistry markers may provide rapid and cost effective alternatives to genetic testing. Because of the potentially aggressive nature of renal cell carcinomas that develop as early as in childhood, close annual cancer surveillance is desirable in individuals with HLRCC. In this review, we offer an update and an approach to the diagnosis, management, and renal cancer surveillance in HLRCC.
Dermatology, Rutgers New Jersey Medical School, Newark, New Jersey.
Viral M
VM
Patel
Dermatology, Rutgers New Jersey Medical School, Newark, New Jersey.
Marc Z
MZ
Handler
Dermatology, Rutgers New Jersey Medical School, Newark, New Jersey; Pathology, Rutgers New Jersey Medical School, Newark, New Jersey; Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey; Rutgers University School of Public Affairs and Administration, Newark, New Jersey. Electronic address: roschwar@cal.berkeley.edu.
Robert A
RA
Schwartz
Dermatology, Rutgers New Jersey Medical School, Newark, New Jersey; Pathology, Rutgers New Jersey Medical School, Newark, New Jersey.
W Clark
WC
Lambert
D000465:Algorithms; D006801:Humans; D018231:Leiomyomatosis / Q000175:diagnosis* / Q000628:therapy*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000628:therapy*; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000628:therapy*; D014594:Uterine Neoplasms / Q000175:diagnosis* / Q000628:therapy*
Reed syndrome; cancer surveillance; cutaneous leiomyomas; piloleiomyomas; renal cancer; uterine leiomyomas