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Infantile myofibromatosis: Small bumps pose big problems.

Hillary C Lee1, Amee A Amin1, Kudakwashe R Chikwava2

  • 1Section of Neonatal-Perinatal Medicine, Department of Pediatrics, Baylor College of Medicine/Texas Children's Hospital, Houston, TX, USA.

Journal of Neonatal-Perinatal Medicine
|February 20, 2025
PubMed
Summary

Infantile myofibromatosis (IM) is a rare tumor. This case highlights successful treatment of extensive IM with low-dose metronomic chemotherapy, offering hope for affected infants.

Keywords:
benign tumorinfantile myofibromatosisneoplasmnodules

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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.