Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report
American Journal of Pediatrics
Volume 6, Issue 2, June 2020, Pages: 173-177
Received: Mar. 16, 2020; Accepted: Apr. 2, 2020; Published: Apr. 29, 2020
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Erica Ortiz, Department of Pediatrics, Pediatrics Resident, Valley Children’s Helathcare, Madera, California, USA
Aaina Kochhar, Department of Genetics and Metabolism, Valley Children’s Helathcare, Madera, California, USA
Indira Chandrasekar, Department of Neonatology, Valley Children’s Helathcare, Madera, California, USA
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Background: Infantile myofibromatosis is a rare disease characterized by solitary or multiple benign tumors. Aggressive myofibromatosis with extensive visceral involvement at birth is a very rare condition with poor prognosis. Case report: We report a term male infant born with multi-system myofibromatosis involving the skin, bone, brain, heart, lung, and GI tract. The patient received chemotherapy but had a protracted clinical course complicated by intestinal obstruction and perforation, and failure to thrive. Pathology of the tumor showed presence of spindle cells. Immunohistochemical analysis of this tissue was positive for vimentin, smooth muscle actin, and CD34 but negative for Muscle-Specific Actin (MSA) and desmin. Also, electron microscopic analysis detected the presence of subcellular myofibroblastic structures. Next generation sequencing analysis of the patient’s blood and tumor tissues identified a germline mutation in PDGFRB gene p. R561C allele (c.1681C>T), as well as a second activating PDGFRB mutation (p. N666S) which was present in the tumor tissue only. Parental testing showed that the germline mutation was inherited from the father, who was asymptomatic. The second mutation is likely responsible for the aggressive nature of the condition in this patient. He eventually died due to cardiorespiratory failure. Conclusion: Early diagnosis by pathology and genetic analysis in patients’ with extensive myofibromatosis will help to determine targeted chemotherapy and prognosis.
Infantile Myofibromatosis, Germline Mutation, PDGFRB Mutation
To cite this article
Erica Ortiz, Aaina Kochhar, Indira Chandrasekar, Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report, American Journal of Pediatrics. Vol. 6, No. 2, 2020, pp. 173-177. doi: 10.11648/j.ajp.20200602.30
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