A Case Report of Extensive Facial Primitive Myxoid Mesenchymal Tumor of Infancy

An Approach to Diagnosis and Review of Literature

Authors

DOI:

https://doi.org/10.21141/PJP.2023.20

Keywords:

primitive myxoid mesenchymal tumor of infancy, BCL6 co-repressor gene internal tandem duplication, soft tissue sarcoma

Abstract

We report a case of a 14-month-old female presenting with a one-year history of rapidly enlarging left hemifacial mass with recurrence despite excision. The tumor consists of bland round to short spindle cells in a myxoid stroma with positive expression to vimentin, CD99, SATB2, cyclin D1 and BCOR, compatible with a sarcoma with BCOR genetic alteration. Next-generation sequencing was performed that detected a BCOR internal tandem duplication, confirming the diagnosis of a primitive myxoid mesenchymal tumor of infancy (PMMTI). This report highlights the importance of attention to histopathologic characteristics, prudent application of immunohistochemical stains and molecular studies in differentiating PMMTI from other soft tissue sarcomas.

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Published

2024-01-09

How to Cite

Briones, M. C., & Domingo, J. (2024). A Case Report of Extensive Facial Primitive Myxoid Mesenchymal Tumor of Infancy: An Approach to Diagnosis and Review of Literature. PJP, 8(2), 59–64. https://doi.org/10.21141/PJP.2023.20