Solitary myofibroma preceding the development of multicentric myofibromatosis: A report of two cases with surveillance recommendations

Abstract

Infantile myofibroma is the most common fibrous tumor of infancy. Despite the frequency of these tumors, the natural history is incompletely understood. We present two cases with a unique pattern of disease: solitary myofibromas with subsequent progression to diffuse myofibromatosis. Given the variable spectrum of disease and the corresponding difference in morbidity and potential mortality based on the extent of disease, we propose surveillance recommendations.

Solitary cutaneous infantile myofibroma as a hallmark of myofibromatosis: Two cases and review of the literature

“…should be considered. 7,11 In addition to the decision of baseline screening, the question of serial screening has been raised. Todd Our Patient 2 and one of Todd et al's patients carried PDGFRB somatic mutations, but somatic mutations were not discussed in the SIOPE paper; the impact of a somatic mutation on disease outcomes (e.g., new lesions, significant growth compromising organ function)…”

“…Depending on the site of involvement, referral to appropriate pediatric specialists (cardiology, neurology, pulmonology, orthopedics, etc.) should be considered 7,11 …”

“…In addition to the decision of baseline screening, the question of serial screening has been raised. Todd et al proposed serial imaging every 3–6 months for 2 years 11 while the European Society for Paediatric Oncology (SIOPE) Host Genome Working Group suggests every 3‐month physical examinations and ultrasound in patients with germline PDGFRB mutations or evidence of familial disease 1 …”