Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation

Ionela Iacobas, Patricia E. Burrows, Denise M. Adams, Vernon R. Sutton, Larry H. Hollier, Murali M. Chintagumpala

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

Abstract

Bannayan-Riley-Ruvacalba syndrome (BRRS) belongs to the PTEN hamartoma tumor syndromes and is characterized by a high risk of malignancy in early adulthood added to local destructive effects of hamartomas in childhood. There is no standard treatment for this condition and patients are usually offered symptomatic surgical relief. Rapamycin has been reported to be effective in the management of other conditions associated with PTEN mutation. We report here a case of BRRS in a 6-year-old male with progressive loss of function of left hand and forearm associated with pain. He was treated with oral rapamycin and regained pain-free full mobility.

Original languageEnglish (US)
Pages (from-to)321-323
Number of pages3
JournalPediatric Blood and Cancer
Volume57
Issue number2
DOIs
StatePublished - Aug 2011

Keywords

  • Angiogenesis
  • Molecular biology and oncogenes
  • New agents
  • Vascular malformations

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology

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