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

doi:10.1002/pbc.23098

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 journal › Article › peer-review

56 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 language	English (US)
Pages (from-to)	321-323
Number of pages	3
Journal	Pediatric Blood and Cancer
Volume	57
Issue number	2
DOIs	https://doi.org/10.1002/pbc.23098
State	Published - 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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title = "Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation",

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.",

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AU - Iacobas, Ionela

AU - Burrows, Patricia E.

AU - Adams, Denise M.

AU - Sutton, Vernon R.

AU - Hollier, Larry H.

AU - Chintagumpala, Murali M.

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AB - 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.

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KW - Molecular biology and oncogenes

KW - New agents

KW - Vascular malformations

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

Abstract

Keywords

ASJC Scopus subject areas

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