Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review

Viral M. Patel, Marc Z. Handler, Robert Schwartz, W. Clark Lambert

Research output: Contribution to journalReview article

24 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)149-158
Number of pages10
JournalJournal of the American Academy of Dermatology
Volume77
Issue number1
DOIs
StatePublished - Jul 1 2017

Fingerprint

Genetic Testing
Leiomyoma
Renal Cell Carcinoma
Fumarate Hydratase
Pain
Skin
Inborn Genetic Diseases
Germ-Line Mutation
Kidney Neoplasms
Hereditary leiomyomatosis and renal cell cancer
Tumor Suppressor Genes
Immunohistochemistry
Morbidity
Costs and Cost Analysis
Neoplasms

All Science Journal Classification (ASJC) codes

  • Dermatology

Keywords

  • Reed syndrome
  • cancer surveillance
  • cutaneous leiomyomas
  • piloleiomyomas
  • renal cancer
  • uterine leiomyomas

Cite this

Patel, Viral M. ; Handler, Marc Z. ; Schwartz, Robert ; Lambert, W. Clark. / Hereditary leiomyomatosis and renal cell cancer syndrome : An update and review. In: Journal of the American Academy of Dermatology. 2017 ; Vol. 77, No. 1. pp. 149-158.
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Hereditary leiomyomatosis and renal cell cancer syndrome : An update and review. / Patel, Viral M.; Handler, Marc Z.; Schwartz, Robert; Lambert, W. Clark.

In: Journal of the American Academy of Dermatology, Vol. 77, No. 1, 01.07.2017, p. 149-158.

Research output: Contribution to journalReview article

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AB - 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.

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