TABLE 1.

PDGFRB mutations included in the study

Mutation	Disease	Type	Domain	Oncogenic	References
p.R561C	Infantile myofibromatosis	Germline familial	JMD	Yes	[15, 16]
p.W566R	Kosaki syndrome & myofibroma	Germline, de novo	JMD	Yes	[37]
p.P584R	Kosaki syndrome & myofibroma	Germline, de novo	JMD	Yes	[18]
p.V665A	Penttinen syndrome	Germline, de novo	TKD	No	[36]
p.N666K	Myofibroma	Somatic	TKD	Yes	[9]
p.N666H	Mixed syndrome	Germline, de novo	TKD	Yes	[35]

Abbreviations: DMEM, Dulbecco's modified Eagle medium; FBS, foetal bovine serum; GIST, gastrointestinal stromal tumour; IFN, interferon; JMD, juxtamembrane domain; PDGF, platelet‐derived growth factor; PLCγ, phospholipase C γ; STAT, signal transducer and activator of transcription; TKD, tyrosine kinase domain; TKI, tyrosine kinase inhibitor.