A rare case of neonatal-onset infantile myofibromatosis with metastatic recurrence in adulthood

Abstract

Infantile myofibromatosis (IM) is a rare mesenchymal disorder, typically observed during infancy and characterized by the development of myofibroblastic tumors within skin, muscle, bone or viscera. In most cases, spontaneous regression of the lesions occurs before the age of four, however therapeutic tools such as surgery and chemotherapy sometimes need to be implemented. Metastatic recurrence of this condition is very rare. We report the case of a newborn infant with multicentric IM involving the skin, intestinal tract and bone, who required long-term symptomatic treatment. Spontaneous regression was noticed at the age of four but twenty years later she presented with a complete spontaneous right pneumothorax revealing cystic pulmonary metastases of IM. There have been very few reports of metastatic recurrence of IM in adulthood and this unique presentation underlines the need for long-term follow-up of these patients to detect and prevent possible complications.

Diverse presentation and tailored treatment of infantile myofibromatosis: A single‐center experience

“…Recurrent IM is rare and it has been reported in 17 patients in the literature (Table 3). 14,26,[34][35][36][37][38][39][40][41] Noteworthy is the high recurrence received chemotherapy of various combinations 34,38 or spontaneously regressed. 14,41 As demonstrated by our Patient 2, recurrence can be treated with the same chemotherapeutic regimen used for the treatment of the initial disease.…”

“…Our review of the literature revealed 15 patients with GI involvement (Table 2). 9–12,14,15,22– Interestingly, only four of them presented as a solitary lesion, while all the others were part of the generalized form of disease with visceral involvement. Pancreas involvement was found in four out of a total of 15 reported patients (Table 2).…”

“…Radiological diagnosis of GI and pancreas involvement may be challenging. Merlin et al described a patient with the generalized form of IM, with protein‐losing enteropathy: only direct endoscopy of the GI tract succeeded in demonstrating the presence of polyps as part of IM, while MRI, omputed tomography (CT), and US failed to demonstrate either the polyps or the pancreatic lesion 26 . In our Patient 1, the clinical manifestations included protein‐losing enteropathy and pancreatic insufficiency with a low fecal elastase level and elevated alpha‐1 antitrypsin, all of which resolved following treatment with vinblastine and methotrexate.…”

“…Recurrent IM is rare and it has been reported in 17 patients in the literature (Table 3). 14,26,34–41 Noteworthy is the high recurrence rate reported by Beck et al in a series of head and neck lesions 34 . This high rate of recurrence reflects an unfavorable location of tumors that were only subtotally resected and needed further surgical intervention when they regrew.…”

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

“…(3) Multicentric/generalized IM is generally considered a multifocal disorder. Metastases have anecdotally been reported in the past[53]. It is conceivable that certain lesions represent metastases rather than multiple inde-…”