Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

Karin Y. van Spaendonck-Zwarts*, Sadhanna Badeloe, Sjoukje F. Oosting, Sjoerd Hovenga, Harry J. F. Semmelink, R. Jeroen A. van Moorselaar, Jan Hein van Waesberghe, Arjen R. Mensenkamp, Fred H. Menko

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

28 Citations (Scopus)

Abstract

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the fumarate hydratase (FH) gene. Previously, we proposed renal imaging for FH mutation carriers starting at the age of 20 years. However, recently an 18-year-old woman from a Dutch family with HLRCC presented with metastatic renal cancer. We describe the patient and family data, evaluate current evidence on renal cancer risk and surveillance in HLRCC and consider the advantages and disadvantages of starting surveillance for renal cancer in childhood. We also discuss the targeted therapies administered to our patient.

Original languageEnglish
Pages (from-to)123-129
Number of pages7
JournalFamilial Cancer
Volume11
Issue number1
DOIs
Publication statusPublished - Mar-2012

Keywords

  • Hereditary leiomyomatosis
  • Papillary renal cancer
  • Fumarate hydratase
  • HYDRATASE GERMLINE MUTATION
  • FUMARATE-HYDRATASE
  • UTERINE LEIOMYOMATA
  • AGGRESSIVE FORM
  • TUMOR SYNDROME
  • CARCINOMA
  • FH
  • FAMILIES
  • PATIENT
  • HLRCC

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