A Case Report of Extensive Facial Primitive Myxoid Mesenchymal Tumor of Infancy
An Approach to Diagnosis and Review of Literature
DOI:
https://doi.org/10.21141/PJP.2023.20Keywords:
primitive myxoid mesenchymal tumor of infancy, BCL6 co-repressor gene internal tandem duplication, soft tissue sarcomaAbstract
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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References
WHO Classification of Tumours Editorial Board. In: Soft Tissue and Bone Tumours: WHO Classification of Tumours, 5th ed., vol. 3; 2020.
Santiago T, Clay MR, Allen SJ, Orr BA. Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma. Mod Pathol. 2017;30(6):884–91. https://pubmed.ncbi.nlm.nih.gov/28256570. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680041. https://doi.org/10.1038/modpathol.2017.12.
Kao YC, Sung YS, Zhang L, et al. Recurrent BCOR internal tandem duplication and YWHAE-nutm2b fusions in soft tissue undifferentiated round cell sarcoma of infancy. Am J Surg Pathol. 2016;40(8):1009–20. https://pubmed.ncbi.nlm.nih.gov/26945340. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942366. https://doi.org/10.1097/PAS.0000000000000629.
Asaftei SD, Campello A, Tirtei E, et al. Management of unresectable metastatic primitive myxoid mesenchymal tumor of infancy: a case report and systematic review of the literature. J Pediatr Hematol Oncol. 2020;42(3):163–9. https://pubmed.ncbi.nlm.nih.gov/32118811. https://doi.org/10.1097/MPH.0000000000001764
Taimur F, Akbar M, Manzoor A, Afghani T, Asif M. Primitive myxoid mesenchymal tumours of infancy: first case surrounding the optic nerve. Can J Ophthalmol. 2023;58(2):e90-2. https://pubmed.ncbi.nlm.nih.gov/35940210. https://doi.org/10.1016/j.jcjo.2022.07.002.
Yu Z, Wanxu G, Feng Z, Di C, Yanquing L, Junjiao L. Primitive myxoid mesenchymal tumor of infancy. J Pediatr Surg Case Rep. 2020;62:101643. https://doi.org/10.1016/j.epsc.2020.101643.
Hayes RA, Nicholls W, Davies J, Sullivan TJ . Primitive myxoid mesenchymal tumor of infancy in the orbit: a new location for a rare tumor. Ophthalmic Plast Reconstr Surg. 2020;36(4):91-3. https://pubmed.ncbi.nlm.nih.gov/32091482. https://doi.org/10.1097/IOP.0000000000001604.
Alaggio R, Ninfo V, Rosolen A, Coffin CM. Primitive myxoid mesenchymal tumor of infancy. Am J Surg Pathol. 2006;30(3):388–94. https://pubmed.ncbi.nlm.nih.gov/16538060. https://doi.org/10.1097/01.pas.0000190784.18198.d8
Antonescu CR, Kao YC, Xu B, et al. Undifferentiated round cell sarcoma with BCOR internal tandem duplications (ITD) or YWHAE fusions: a clinicopathologic and molecular study. Mod Pathol. 2020 33(9):1669–77. https://pubmed.ncbi.nlm.nih.gov/32372022. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483745. https://doi.org/10.1038/s41379-020-0557-5.
Guilbert MC, Rougemont AL, Samson Y, Mac-Thiong JM, Fournet JC, Bouron-DalSoglio D. Transformation of a primitive myxoid mesenchymal tumor of infancy to an undifferentiated sarcoma. J Pediatr Hematol Oncol. 2015; 37(2): e118–20. https://pubmed.ncbi.nlm.nih.gov/24390443. https://doi.org/10.1097/MPH.0000000000000107.
Aldera AP, Govender D. Gene of the month: BCOR. J Clin Pathol. 2020;73(6), 314–7. https://pubmed.ncbi.nlm.nih.gov/32161069. https://doi.org/10.1136/jclinpath-2020-206513.
Cramer, SL., Li, R., Ali, S., Bradley, JA., Kim, HK., and Pressey, JG (2017). Successful Treatment of Recurrent Primitive Myxoid Mesenchymal Tumor of Infancy With BCOR Internal Tandem Duplication. Journal of National Comprehensive Cancer Network, 15 (7), 868-861. https://doi.org/10.6004/jnccn.2017.0124
Yang B, Chen Q, Zhu Y, et al. Case report: local bleomycin injection: a possible treatment option for primitive myxoid mesenchymal tumor of infancy. Front Pediatr. 2022;10: 993450. https://pubmed.ncbi.nlm.nih.gov/36313882. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9611196. https://doi.org/10.3389/fped.2022.993450.
Saeed AA, Riaz Q, Din NU, Altaf S. Primitive myxoid mesenchymal tumor of infancy with brain metastasis: first reported case. Childs Nerv Syst. 2019;35(2):363–8. https://pubmed.ncbi.nlm.nih.gov/30178176. https://doi.org/10.1007/s00381-018-3964-x.
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