Aggressive infantile myofibromatosis with intestinal involvement.
Infantile myofibromatosis
Intestinal polyposis
Molecular targeted therapy
PDGFRB mutation
Journal
Molecular and cellular pediatrics
ISSN: 2194-7791
Titre abrégé: Mol Cell Pediatr
Pays: Germany
ID NLM: 101660689
Informations de publication
Date de publication:
16 Jun 2021
16 Jun 2021
Historique:
received:
11
04
2021
accepted:
06
06
2021
entrez:
16
6
2021
pubmed:
17
6
2021
medline:
17
6
2021
Statut:
epublish
Résumé
Infantile 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. We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy. PDGFRB-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.
Sections du résumé
BACKGROUND
BACKGROUND
Infantile 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 PRESENTATION
METHODS
We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy.
CONCLUSIONS
CONCLUSIONS
PDGFRB-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.
Identifiants
pubmed: 34132909
doi: 10.1186/s40348-021-00117-9
pii: 10.1186/s40348-021-00117-9
pmc: PMC8208328
doi:
Types de publication
Journal Article
Langues
eng
Pagination
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