title: The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.
abstract: Infantile myofibromatosis is characterized by benign myofibroblastic tumors within skin, muscle, bone or viscera which have a characteristic staining pattern on immunohistochemistry. The condition typically presents in infancy and the tumors often disappear by the third year of life. Mutations in the PDGFRB gene and NOTCH3 genes have been identified in familial forms of the condition. We present two families with molecularly confirmed germline mutations in the PDGFRB gene, one demonstrating a phenotype ranging from complete non-penetrance to neonatal lethality; and the other illustrating adult recurrence of the tumors.
authors.affiliation: Hunter Genetics, Hunter New England Local Health District, PO Box 84, Waratah, 2298, NSW, Australia.
authors.forename: Natalia
authors.initials: N
authors.lastname: Murray
authors.affiliation: Hunter Genetics, Hunter New England Local Health District, PO Box 84, Waratah, 2298, NSW, Australia.
authors.forename: B
authors.initials: B
authors.lastname: Hanna
authors.affiliation: Department of Histopathology, Children's Hospital Westmead, Cnr Hawkesbury Road and Hainsworth Street, Westmead, NSW, Australia.
authors.forename: Nicole
authors.initials: N
authors.lastname: Graf
authors.forename: He
authors.initials: H
authors.lastname: Fu
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, QC, Canada.
authors.forename: Veronneau
authors.initials: V
authors.lastname: Mylène
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, University of Montreal, Montreal, QC, Canada. Electronic address: natalia.murray@hnehealth.nsw.gov.au.
authors.forename: P M
authors.initials: PM
authors.lastname: Campeau
authors.affiliation: Hunter Genetics, Hunter New England Local Health District, PO Box 84, Waratah, NSW, Australia 2298. Electronic address: Anne.ronan@hnehealth.nsw.gov.au.
authors.forename: Anne
authors.initials: A
authors.lastname: Ronan
mesh_terms: D000328:Adult; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D008297:Male; D018224:Myofibromatosis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D019683:Penetrance; D000071656:Receptor, Notch3 / Q000235:genetics; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; C000605860:PDGFRB protein, human; D020797:Receptor, Platelet-Derived Growth Factor beta
keywords: Infantile myofibromatosis; Myofibroma; NOTCH3 gene; PDGFRB gene