Primitive myxoid mesenchymal tumor of infancy with brain metastasis: first reported case
Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a recently diagnosed entity, with only a handful of cases reported to date.
Herein, we present the occurrence of this tumor in a 2-year-old boy, initially diagnosed as primitive neuroectodermal tumor of the extremity and treated with chemotherapy and surgical resection. He later presented with a cerebellar lesion, and biopsy was consistent with PMMTI.
While there have been previous cases of PMMTI reported with loco-regional metastatic spread, to our knowledge, there is no known incidence of distant metastasis with involvement of the central nervous system, which makes this case the first of its kind.
KeywordsPrimitive myxoid mesenchymal tumor of infancy Metastasis Brain involvement
The authors acknowledge the pathologists of St. Jude Children’s Research Hospital for reviewing the slides and performing molecular studies.
Compliance with ethical standards
Conflict of interest
On behalf of all authors, the corresponding author states that there is no conflict of interest.
- 5.Kao YC, Sung YS, Zhang L, Huang SC, Argani P, Chung CT, Graf NS, Wright DC, Kellie SJ, Agaram NP, Ludwig K, Zin A, Alaggio R, Antonescu CR (2016) Recurrent BCOR internal tandem duplication and YWHAE-NUTM2B fusions in soft tissue undifferentiated round cell sarcoma of infancy: overlapping genetic features with clear cell sarcoma of kidney. Am J Surg Pathol 40(8):1009–1020CrossRefPubMedCentralGoogle Scholar
- 7.Wang H, Liu Q, Wang J et al (2014) Primitive myxoid mesenchymal tumor of infancy: a clinicopathologic study of 3 additional cases. Zhonghua Bing Li Xue Za Zhi 43(6):375–378Google Scholar
- 8.Cuthbertson DW, Caceres K, Hicks J et al (2014) A cooperative approach to diagnosis of rare diseases: primitive myxoid mesenchymal tumor of infancy. Ann Clin Lab Sci 44(3):310–316Google Scholar
- 15.Warren M, Turpin BK, Mark M, Smolarek TA, Li X (2016) Undifferentiated myxoid lipoblastoma with PLAG1–HAS2 fusion in an infant; morphologically mimicking primitive myxoid mesenchymal tumor of infancy (PMMTI)—diagnostic importance of cytogenetic and molecular testing and literature review. Cancer Genet 209(1):21–29CrossRefGoogle Scholar