Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.

ABSTRACT:

Importance

Myofibroma is the most frequent fibrous tumor in children. Multicentric myofibroma (referred to as infantile myofibromatosis) is a life-threatening disease.

Objective

To determine the frequency, spectrum, and clinical implications of mutations in the PDGFRB receptor tyrosine kinase found in sporadic myofibroma and myofibromatosis.

Design, setting, and participants

In this retrospective study of 69 patients with sporadic myofibroma or myofibromatosis, 85 tumor samples were obtained and analyzed by targeted deep sequencing of PDGFRB. Mutations were confirmed by an alternative method of sequencing and were experimentally characterized to confirm gain of function and sensitivity to the tyrosine kinase inhibitor imatinib.

Main outcomes and measures

Freque

SUBMITTER: Dachy G 

PROVIDER: S-EPMC6487901 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature