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Updated: Nov 2, 2025
Isolation of CD 90+ Fibroblast/Myofibroblasts from Human Frozen Gastrointestinal Specimens
Published on: January 31, 2016
Aggressive infantile myofibromatosis with intestinal involvement
Tristan Römer1, Norbert Wagner2, Till Braunschweig3
1Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Pauwelstrasse 30, 52074, Aachen, Germany. troemer@ukaachen.de.
Infantile myofibromatosis (IM) driven by PDGFRB mutations presents a challenge due to its unpredictable course and potential for severe visceral lesions. Early genetic testing is crucial for guiding treatment with tyrosine kinase inhibitors.
Area of Science:
- Pediatric Oncology
- Dermatology
- Genetics
Background:
- Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infants.
- Multicentric IM can involve life-threatening visceral lesions.
- Germline gain-of-function mutations in PDGFRB are the most frequent molecular cause of familial IM.
Purpose of the Study:
- To describe a case of PDGFRB-driven infantile myofibromatosis.
- To highlight the clinical challenges and management of this condition.
Main Methods:
- Case presentation of an infant with PDGFRB-driven IM.
- Description of clinical manifestations including intestinal polyposis.
- Note on temporary chemotherapy requirement.
Main Results:
- The infant presented with multiple tumors at various sites, including the intestines.
- Hematochezia and intestinal polyposis were significant clinical features.
- The condition necessitated temporary chemotherapy.
Conclusions:
- PDGFRB-driven IM poses clinical challenges due to fluctuating disease course and multi-organ involvement.
- Early molecular genetic analysis is essential for identifying patients who may benefit from tyrosine kinase inhibitor therapy for aggressive visceral lesions.
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