Oral Rapamycin in the Treatment of Patients With Hamartoma Syndromes and PTEN Mutation

被引：62

作者：

Iacobas, Ionela ^{[1
]}

Burrows, Patricia E. ^{[2
]}

Adams, Denise M. ^{[3
]}

Sutton, Vernon R. ^{[4
]}

Hollier, Larry H. ^{[5
]}

Chintagumpala, Murali M. ^{[6
]}

机构：

[1] St Peters Univ Hosp, Sect Hematol, Dept Pediat, New Brunswick, NJ 08901 USA

[2] Baylor Coll Med, Dept Pediat Intervent Radiol, Houston, TX 77030 USA

[3] Cincinnati Childrens Hosp, Dept Pediat Hematol Oncol, Cincinnati, OH USA

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[5] Baylor Coll Med, Dept Plast Surg, Houston, TX 77030 USA

[6] Baylor Coll Med, Dept Pediat Hematol Oncol, Houston, TX 77030 USA

来源：

PEDIATRIC BLOOD & CANCER | 2011年 / 57卷 / 02期

关键词：

angiogenesis; molecular biology and oncogenes; new agents; vascular malformations;

D O I：

10.1002/pbc.23098

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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. (C) 2011 Wiley-Liss, Inc.

引用

页码：321 / 323

页数：3

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