PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib

Johannes M. Weller; Vera C. Keil; Gerrit H. Gielen; Ulrich Herrlinger; Niklas Schäfer

doi:https://doi.org/10.1002/ajmg.a.61283

PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib

Johannes M. Weller, Vera C. Keil, Gerrit H. Gielen, Ulrich Herrlinger, Niklas Schäfer

Research output: Contribution to journal › Article › Academic › peer-review

16 Citations (Scopus)

Abstract

Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile myofibromatosis. We describe a 36-year-old man with PDGFRB c.1681C>T (p.R561C) mutation. Upon progressive disease, the patient received treatment with imatinib and showed a remarkable response with remission of multiple lesions after 12 months. This is the first report of an adult patient with PDGFRB c.1681C>T mutation treated with imatinib.

Original language	English
Pages (from-to)	1895-1897
Number of pages	3
Journal	American Journal of Medical Genetics Part A
Volume	179
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.61283
Publication status	Published - 2019
Externally published	Yes

Keywords

Adult
Disease Progression
Genetic Predisposition to Disease
Heterozygote
Humans
Imatinib Mesylate/administration & dosage
Male
Mutation/drug effects
Myofibromatosis/drug therapy
Receptor, Platelet-Derived Growth Factor beta/genetics

Access to Document

https://doi.org/10.1002/ajmg.a.61283

Cite this

@article{f5ecee27f4964a3585ac401364cc8862,

title = "PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib",

abstract = "Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile myofibromatosis. We describe a 36-year-old man with PDGFRB c.1681C>T (p.R561C) mutation. Upon progressive disease, the patient received treatment with imatinib and showed a remarkable response with remission of multiple lesions after 12 months. This is the first report of an adult patient with PDGFRB c.1681C>T mutation treated with imatinib.",

keywords = "Adult, Disease Progression, Genetic Predisposition to Disease, Heterozygote, Humans, Imatinib Mesylate/administration & dosage, Male, Mutation/drug effects, Myofibromatosis/drug therapy, Receptor, Platelet-Derived Growth Factor beta/genetics",

author = "Weller, {Johannes M.} and Keil, {Vera C.} and Gielen, {Gerrit H.} and Ulrich Herrlinger and Niklas Sch{\"a}fer",

note = "{\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2019",

doi = "https://doi.org/10.1002/ajmg.a.61283",

language = "English",

volume = "179",

pages = "1895--1897",

journal = "American Journal of Medical Genetics Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "9",

}

TY - JOUR

T1 - PDGRFB mutation-associated myofibromatosis

T2 - Response to targeted therapy with imatinib

AU - Weller, Johannes M.

AU - Keil, Vera C.

AU - Gielen, Gerrit H.

AU - Herrlinger, Ulrich

AU - Schäfer, Niklas

PY - 2019

Y1 - 2019

N2 - Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile myofibromatosis. We describe a 36-year-old man with PDGFRB c.1681C>T (p.R561C) mutation. Upon progressive disease, the patient received treatment with imatinib and showed a remarkable response with remission of multiple lesions after 12 months. This is the first report of an adult patient with PDGFRB c.1681C>T mutation treated with imatinib.

AB - Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile myofibromatosis. We describe a 36-year-old man with PDGFRB c.1681C>T (p.R561C) mutation. Upon progressive disease, the patient received treatment with imatinib and showed a remarkable response with remission of multiple lesions after 12 months. This is the first report of an adult patient with PDGFRB c.1681C>T mutation treated with imatinib.

KW - Adult

KW - Disease Progression

KW - Genetic Predisposition to Disease

KW - Heterozygote

KW - Humans

KW - Imatinib Mesylate/administration & dosage

KW - Male

KW - Mutation/drug effects

KW - Myofibromatosis/drug therapy

KW - Receptor, Platelet-Derived Growth Factor beta/genetics

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85068763278&origin=inward

UR - https://www.ncbi.nlm.nih.gov/pubmed/31291054

U2 - https://doi.org/10.1002/ajmg.a.61283

DO - https://doi.org/10.1002/ajmg.a.61283

M3 - Article

C2 - 31291054

SN - 1552-4825

VL - 179

SP - 1895

EP - 1897

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 9

ER -

PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib

Abstract

Keywords

Access to Document

Other files and links

Cite this