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Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation
Author(s) -
Iacobas Ionela,
Burrows Patricia E.,
Adams Denise M.,
Sutton Ver R.,
Hollier Larry H.,
Chintagumpala Murali M.
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.23098
Subject(s) - medicine , pten , hamartoma , malignancy , dermatology , pathology , pi3k/akt/mtor pathway , genetics , apoptosis , biology
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. Pediatr Blood Cancer 2011; 57: 321–323. © 2011 Wiley‐Liss, Inc.