Abstract
BackgroundInfantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM.Case presentationWe here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy.ConclusionsPDGFRB-driven IM is clinically challenging due to its fluctuating course and multiple organ involvement in the first years of life. Early molecular genetic analysis is necessary to consider tyrosine kinase inhibitor treatment in case of aggressive visceral lesions.
Highlights
Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy
Critical lesions in our patient were located in the gastrointestinal tract leading to hematochezia and the skull with proximity to the confluens sinuum
Ongoing hematochezia with development of anemia, as we observed in our patient, has not been mentioned as a leading symptom before in the literature
Summary
Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. We here describe a familial case of infantile myofibromatosis, harboring the characteristic PDGFRB mutation c.1681C>T, with a remarkable clinical course in terms of spatial and temporal distribution of lesions, including intestinal manifestation with indication for chemotherapy.
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