Treatment of generalized infantile myofibromatosis with sorafenib and imatinib: A case report

Abstract

Infantile myofibromatosis (IM) is characterized by solitary musculoskeletal nodules presenting during infancy but can manifest as multiple lesions with visceral involvement. Multicentric IM with visceral involvement carries a high risk of mortality and there is no consensus on treatment. We present a case of a patient with multicentric IM and pulmonary involvement who progressed on several chemotherapeutic regimens and subsequently had a complete response to sorafenib and later imatinib. This report describes the novel use of sorafenib and imatinib to treat generalized IM and the role of continued tyrosine kinase inhibitor therapy to maintain remission.

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

“…PDGFR‐targeted therapy might also be used in cases of refractory generalized IM 48 . Recently a case report of an infant patient with refractory generalized IM demonstrated successful treatment with PDGFR inhibitors (sorafenib and imatinib), even without a known disease‐causing mutation in the PDGFR gene 49 . The patient had multiple adverse side effects secondary to sorafenib, including reduction in height growth velocity, dermatitis, and GI symptoms, but continued her therapy without interruption.…”

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

“…Beyond the specific points discussed in these correspondences, we take this opportunity to invite a continued dialogue to collectively share experiences of the spectrum of this disease. As demonstrated in recent publications, we anticipate that further biological insight will be critical for individualizing risk status 1‐3 …”

Major response to imatinib and chemotherapy in a newborn patient prenatally diagnosed with generalized infantile myofibromatosis

“…A second-line treatment with targeted therapy should be considered only in case of a life-threatening progression of the disease. 4,10,11 Pediatr Blood Cancer. 2021;68:e28576.…”

“…Imatinib is a multikinase inhibitor including PDGFR‐β inhibition. A second‐line treatment with targeted therapy should be considered only in case of a life‐threatening progression of the disease 4,10,11 . Nevertheless, the precise dosage of imatinib during infancy has not really been defined 12 .…”