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

Abstract

Background: Infantile myofibromatosis (IM) is a rare benign fibrous tumor with diverse clinical presentations and treatments, such as watchful waiting, surgical excision, and low-dose chemotherapy. Procedure: Clinical presentation and tailored treatment of five infants with solitary and generalized IM are described, together with a review of the literature. Results: Three patients underwent total-body magnetic resonance imaging (MRI) at diagnosis and during follow up, which revealed disease extension that aided in designing treatment. Visceral involvement included central nervous system, cardiac, gastrointestinal, muscle, bone, and subcutaneous tissue lesions. The patient with the solitary form of IM was followed up without treatment and had spontaneous improvement. Patients with the multicentric form received intravenous low-dose methotrexate and vinblastine chemotherapy. One patient who received oral methotrexate due to cardiac involvement and unfeasible central line access had excellent results. Recurrence was successfully treated by the same methotrexate and vinblastine regimen as that administered at diagnosis. Conclusions: We suggest screening all patients with one or more IM lesions by means of total body MRI due to its inherent superior soft tissue resolution. Total-body MRI may also be used for routine follow up. Oral methotrexate can be administered successfully in patients that lack central line access, and recurrent lesions can be treated with the same chemotherapeutic combination as that given at diagnosis. Long-term follow up is needed, since recurrence could appear years after initial presentation of the disease.

Infantile Myofibromatosis With Cutaneous, Visceral, and CNS Involvement: A Multimodal Approach to Therapy

“…IM cases of solitary and multicentric disease without visceral involvement have been monitored with observation and surveillance in anticipation of spontaneous regression 4,9,10 . This is true even in solitary CNS lesions with resolution without recurrence 11 .…”

“…Infantile myofibromatosis (IM) is known to be rare, however, it is the most common fibrous tumor of infancy 1–4 . Previous cases describe fibrous tumors that can develop in the skin, bone, muscle, viscera, or rarely central nervous system (CNS), though it is more common to be in a solitary location compared with multicentric involvement 2,5–9 . Solitary lesions, including CNS lesions, 9 as well as multicentric forms without visceral involvement can spontaneously regress, but multicentric forms with visceral involvement tend to progress with poor prognoses 1,2,10 .…”

“…Previous cases describe fibrous tumors that can develop in the skin, bone, muscle, viscera, or rarely central nervous system (CNS), though it is more common to be in a solitary location compared with multicentric involvement 2,5–9 . Solitary lesions, including CNS lesions, 9 as well as multicentric forms without visceral involvement can spontaneously regress, but multicentric forms with visceral involvement tend to progress with poor prognoses 1,2,10 . We present a rare case of IM with multicentric and visceral involvement (known as type III), including CNS, and successful novel treatment with intrathecal chemotherapy and surgical resection.…”

A Unique Case of Multicentric Infantile Myofibromatosis with Radiologic-Pathologic Correlation

“…As IM without visceral involvement tends to spontaneously regress, treatment is usually not recommended [ 1 ]. In IM with visceral involvement, the most common treatment regimens are an intravenous application of vinblastine and methotrexate; however, some authors recommend interferon α, other chemotherapeutical agents (vincristine, actinomycin D, cyclophosphamide), radiotherapy, and surgical treatment as well [ 4 , 20 ]. In our case, multiple lesions in the lungs prevented adequate ventilation and tissue oxygenation, which led to a progressively deteriorated clinical condition, multiorgan failure, and death, before the patient could receive targeted treatment for IM.…”

A SAMD5–SASH1 fusion in solitary infantile myofibromatosis

“…The prognosis for solitary IM is generally good after surgical resection of the tumor; some cases regress spontaneously. However, multicentric disease involving visceral organs can be life‐threatening, and patients may require systemic chemotherapy 2,3 . The World Health Organization (WHO) classification of soft tissue tumor categorizes IM to the family of benign pericytic/perivascular tumors 4,5 …”