Abstract
Pediatric fibromyxoid soft tissue tumors may be associated with gene fusions such as YHWAZ::PLAG1, with only three reported cases in the literature. We present the fourth case, a 13-year-old male with a pediatric fibromyxoid brachial plexus tumor with YWHAZ::PLAG1 gene fusion. This is also the first case to be reported in an adolescent, in the brachial plexus, and in the Philippines. The patient presented with a 10-year history of a slowly growing left supraclavicular mass and a 1-year history of intermittent dysesthesia in the left upper extremity. Neurologic examination was unremarkable. Imaging revealed a large left supraclavicular lesion with intrathoracic extension. Surgical excision was performed, and histopathology revealed a fibromyxoid tumor with YWHAZ::PLAG1 gene fusion. Although previous examples of this gene fusion pointed toward lipoblastoma as their primary pathology, our tumor does not completely fulfill the current diagnostic criteria for a lipoblastoma and may represent an intermediate form of the disease. Our case is unique not only because it is the first reported adolescent patient harboring such a lesion but also because of the relatively lengthy natural history exhibited by the tumor prior to its resection. This provided us with valuable information about its behavior, which suggests a more indolent growth pattern. This case also highlights the clinical importance of molecular testing of tumors, where recognition of disease entities can assist clinicians in deciding and advocating for the proper management.
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Acknowledgements
We would like to acknowledge the assistance of Dr. Kenneth Chang Tou En and his team at the KK Women’s and Children’s Hospital, Singapore, for the pathology consultation and performing the additional immunohistochemistry and molecular tests.
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S.N.C.: conceptualization; resource; data curation; writing - original draft preparation; writing – review and editing; E.G.O.: conceptualization; resource; writing - original draft preparation; writing – review and editing; K.P.C.: conceptualization; resource; writing - original draft preparation; writing – review and editing; D.G.O.: conceptualization; writing – original draft preparation; A.G.: conceptualization; resource; writing - original draft preparation; writing – review and editing; K.O.K: conceptualization; writing - original draft preparation; writing – review and editing; supervision; project administration.
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Cua, S.K.N., Odoño, E.G., Chan, K.I.P. et al. Pediatric fibromyxoid brachial plexus tumor with YWHAZ::PLAG1 gene fusion: a case report. Childs Nerv Syst 40, 1919–1924 (2024). https://doi.org/10.1007/s00381-024-06359-y
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DOI: https://doi.org/10.1007/s00381-024-06359-y