Infantile myofibromatosis: Small bumps pose big problems

Area of Science:

• Pediatric Oncology
• Dermatopathology
• Medical Genetics

Background:

• Infantile myofibromatosis (IM) presents as benign myofibroblastic tumors in infants, posing risks due to potential visceral organ involvement.
• These tumors are the most common soft tissue lesions in infants under two, often presenting as nodules.
• While some IM cases regress spontaneously or are surgically resectable, extensive disease requires effective treatment.

Purpose of the Study:

• To report a case of infantile myofibromatosis with extensive bone involvement.
• To evaluate the efficacy of low-dose metronomic chemotherapy in managing aggressive IM.
• To highlight a successful treatment strategy for a rare pediatric tumor.

Main Methods:

• Diagnosis of IM was confirmed via biopsy and molecular genetic studies, identifying a PDGFRB mutation.
• The infant presented with multiple subcutaneous and intramuscular nodules and subsequent bone deformities.
• Treatment involved low-dose metronomic chemotherapy with methotrexate and vinblastine.

Main Results:

• The patient was diagnosed with infantile myofibromatosis with extensive disease, including bone lesions.
• Molecular analysis revealed a PDGFRB mutation in the biopsied lesion.
• The infant showed successful disease management with low-dose metronomic chemotherapy.

Conclusions:

• Low-dose metronomic chemotherapy (methotrexate and vinblastine) is an effective treatment for extensive infantile myofibromatosis.
• This approach offers a viable therapeutic option for infants with aggressive or widespread IM.
• Successful management of extensive IM demonstrates the potential for chemotherapy in this rare condition.