Diagnostic limitations and considerations in the imaging evaluation of advanced multicentric infantile myofibromatosis.
Driscoll, Colleen Ann Hughes
Hoffman, Suma Bhat
JournalRadiology case reports
MetadataShow full item record
AbstractInfantile myofibromatosis, the most common fibrous tumor of infancy, is classified in 2 forms; as a solitary nodule or as numerous, widely-distributed multicentric lesions with or without visceral involvement. Although benign, multicentric myofibromas are still associated with a high incidence of morbidity and mortality due to the infiltration of critical structures. Herein, we present a case of an infant with aggressive PDGFRB and NOTCH3 mutation-negative myofibromas distributed throughout the vascular, respiratory, and gastrointestinal systems. The extensive disease resulted in pulmonary hypertension, respiratory failure and gastrointestinal obstruction refractory to chemotherapy and unamenable to surgical resection. Despite the presence of numerous highly invasive myofibromas, multiple imaging modalities largely underestimated, or even missed, tumors found at autopsy. This case demonstrates the limitations of radiographic imaging to assess disease burden in multicentric infantile myofibromatosis. The postmortem findings of extensive disease far exceeding what was demonstrated by multiple imaging modalities suggests that pediatricians should have a high index of suspicion for undetected tumors if clinical deterioration is otherwise unexplained.
Rights/Terms© 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington.
CT, computed tomography
IM, infantile myofibromatosis
MRI, magnetic resonance imaging
SMA, smooth muscle actin
SVC, superior vena cava
Soft tissue tumors
Identifier to cite or link to this itemhttp://hdl.handle.net/10713/13846
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