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

Pediatr Blood Cancer. 2011 Aug;57(2):321-3. doi: 10.1002/pbc.23098. Epub 2011 Feb 25.


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.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Antibiotics, Antineoplastic / administration & dosage*
  • Antibiotics, Antineoplastic / adverse effects
  • Arteriovenous Malformations / drug therapy*
  • Arteriovenous Malformations / etiology
  • Child
  • Hamartoma Syndrome, Multiple / complications
  • Hamartoma Syndrome, Multiple / drug therapy*
  • Humans
  • Male
  • Sirolimus / administration & dosage*
  • Sirolimus / adverse effects
  • Upper Extremity / blood supply*


  • Antibiotics, Antineoplastic
  • Sirolimus