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Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

5 Sept 2020

Abstract excerpt

Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Somatic PDGFRB variants were also detected in solitary and...

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PMID: 32888134
DOI: 10.1007/s10689-020-00204-2

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