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Radiology Case Reports Jan 2024Infantile myofibromatosis (IM) is a mesenchymal tumor that may present in infants in a couple of major forms: solitary (myofibroma) and multicentric (myofibromatosis)...
Infantile myofibromatosis (IM) is a mesenchymal tumor that may present in infants in a couple of major forms: solitary (myofibroma) and multicentric (myofibromatosis) which can be more subdivided into IM without or with visceral involvement. The tumors present as nodular lesions in the soft tissues, bones, and/or internal organs. Although the success of imaging in suggesting the correct diagnosis can't be denied, histopathology and Immunohistochemical examinations are necessary to confirm the diagnosis of IM as it might be misdiagnosed as a malignant tumor. We report a case of solitary infantile myofibromatosis in the upper extremities discovered in a 9-year-old girl. She had swelling and an enlargement on the posterior forearm on the ulnar side. The X-ray showed a lytic lesion with swollen soft tissue. The patient underwent an MRI which suggested the diagnosis of myofibroma. Then, solitary myofibroma was confirmed histologically. Infancy's most prevalent fibrous tumor is IM. Its prognosis depends on the visceral involvement. Imaging, especially MRI is the ideal tool to diagnose it.
PubMed: 38046916
DOI: 10.1016/j.radcr.2023.09.063 -
BMC Medical Genomics Aug 2023Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases... (Review)
Review
BACKGROUND
Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds.
CASE PRESENTATION
A woman at 23 weeks of gestation was referred for ultrasound evaluation of fetal kidney abnormality. Generalized masses in the skin and muscle of the fetus developed at 28 weeks. Prenatal genetic testing identified the pathogenic heterozygous variant c.1681C > T (p.R561C) of the PDGFRB gene inherited from the asymptomatic father. Intrauterine demise occurred at 31 weeks. Autopsy confirmed DFIM with involvement of the heart and kidney. All cases of prenatally detected IM were reviewed, revealing an association of high mortality with DFIM.
CONCLUSIONS
Prenatal IM diagnosis is difficult. Initial detection is always based on ultrasound. DFIM has high mortality. The germline p.R561C mutation in PDGFRB may cause fetal demise due to severe visceral involvement of IM. Prenatal genetic testing provides a diagnosis before pathological results are available, leading to better counseling and management of pregnancy with a fetus with IM.
Topics: Pregnancy; Female; Humans; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta; Germ-Line Mutation; Prenatal Diagnosis
PubMed: 37568122
DOI: 10.1186/s12920-023-01612-w -
Journal of Pediatric Hematology/oncology Oct 2023Infantile myofibromatosis (IM) is a rare benign tumor of infancy. Cases with solitary and multicentric disease usually spontaneously regress, but multicentric disease...
BACKGROUND
Infantile myofibromatosis (IM) is a rare benign tumor of infancy. Cases with solitary and multicentric disease usually spontaneously regress, but multicentric disease with visceral involvement carries a poor prognosis. Few cases of multicentric disease with central nervous system (CNS) involvement have been reported, and none report survival.
OBSERVATIONS
We present a newborn with multicentric IM with cutaneous, visceral, and CNS involvement. She was treated with vinblastine, methotrexate, and the novel addition of intrathecal methotrexate with treatment response after 1 year of therapy.
CONCLUSIONS
Multicentric IM with CNS involvement can be successfully treated with a multimodal approach of chemotherapy with the addition of intrathecal methotrexate and surgery.
Topics: Infant, Newborn; Female; Humans; Methotrexate; Myofibromatosis; Vinblastine
PubMed: 37526359
DOI: 10.1097/MPH.0000000000002717