Skip to main content
Top
Published in: Child's Nervous System 2/2019

01-02-2019 | Case Report

Primitive myxoid mesenchymal tumor of infancy with brain metastasis: first reported case

Authors: Amna Afzal Saeed, Quratulain Riaz, Nasir Ud Din, Sadaf Altaf

Published in: Child's Nervous System | Issue 2/2019

Login to get access

Abstract

Introduction

Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a recently diagnosed entity, with only a handful of cases reported to date.

Case description

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.

Conclusion

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.
Literature
1.
go back to reference Alaggio R, Ninfo V, Rosolen A, Coffin CM (2006) Primitive myxoid mesenchymal tumor of infancy: a clinicopathologic report of 6 cases. Am J Surg Pathol 30(3):388–394CrossRefPubMed Alaggio R, Ninfo V, Rosolen A, Coffin CM (2006) Primitive myxoid mesenchymal tumor of infancy: a clinicopathologic report of 6 cases. Am J Surg Pathol 30(3):388–394CrossRefPubMed
2.
go back to reference Cipriani NA, Ryan DP, Nielsen GP (2014) Primitive myxoid mesenchymal tumor of infancy with rosettes: a new finding and literature review. Int J Surg Pathol 22(7):647–651CrossRefPubMed Cipriani NA, Ryan DP, Nielsen GP (2014) Primitive myxoid mesenchymal tumor of infancy with rosettes: a new finding and literature review. Int J Surg Pathol 22(7):647–651CrossRefPubMed
3.
go back to reference Su TC, Hwang MJ, Li CF, Wang SC, Lee CH, Chen CJ (2013) A rare malignant tumor of scalp in a 3-month-old Taiwanese infancy: case report of primitive myxoid mesenchymal tumor of infancy with molecular study. Med Mol Morphol 46(2):109–113CrossRefPubMed Su TC, Hwang MJ, Li CF, Wang SC, Lee CH, Chen CJ (2013) A rare malignant tumor of scalp in a 3-month-old Taiwanese infancy: case report of primitive myxoid mesenchymal tumor of infancy with molecular study. Med Mol Morphol 46(2):109–113CrossRefPubMed
4.
go back to reference Gong Q, Wang Z, Li X, Fan Q (2012) Primitive myxoid mesenchymal tumor of infancy: report of two cases and review of the literature. Pathol Int 62(8):549–553CrossRefPubMed Gong Q, Wang Z, Li X, Fan Q (2012) Primitive myxoid mesenchymal tumor of infancy: report of two cases and review of the literature. Pathol Int 62(8):549–553CrossRefPubMed
5.
go back to reference 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):1009–1020CrossRefPubMedCentralPubMed 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):1009–1020CrossRefPubMedCentralPubMed
6.
go back to reference Mulligan L, O’meara A, Orr D et al (2010) Primitive myxoid mesenchymal tumor of infancy: a report of a further case with locally aggressive behavior. Pediatr Dev Pathol 14(1):75–79CrossRefPubMed Mulligan L, O’meara A, Orr D et al (2010) Primitive myxoid mesenchymal tumor of infancy: a report of a further case with locally aggressive behavior. Pediatr Dev Pathol 14(1):75–79CrossRefPubMed
7.
go back to reference 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):375–378PubMed 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):375–378PubMed
8.
go back to reference 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):310–316PubMed 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):310–316PubMed
9.
go back to reference Santiago T, Clay MR, Allen SJ, Orr BA (2017) Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma. Mod Pathol 30(6):884–891CrossRefPubMedCentralPubMed Santiago T, Clay MR, Allen SJ, Orr BA (2017) Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma. Mod Pathol 30(6):884–891CrossRefPubMedCentralPubMed
10.
go back to reference Saito A, Taketani T, Kanai R, Kanagawa T, Kumori K, Yamamoto N, Ishikawa N, Takita J, Yamaguchi S (2013) A case with sacrococcygeal primitive myxoid mesenchymal tumor of infancy: a case report and review of the literature. J Pediatr Hematol Oncol 35(7):e280–e282CrossRefPubMed Saito A, Taketani T, Kanai R, Kanagawa T, Kumori K, Yamamoto N, Ishikawa N, Takita J, Yamaguchi S (2013) A case with sacrococcygeal primitive myxoid mesenchymal tumor of infancy: a case report and review of the literature. J Pediatr Hematol Oncol 35(7):e280–e282CrossRefPubMed
11.
go back to reference Foster JH, Vasudevan SA, Hicks MJ, Schady D, Chintagumpala M (2016) Primitive myxoid mesenchymal tumor of infancy involving chest wall in an infant: a case report and clinicopathologic correlation. Pediatr Dev Pathol 19(3):244–248CrossRefPubMed Foster JH, Vasudevan SA, Hicks MJ, Schady D, Chintagumpala M (2016) Primitive myxoid mesenchymal tumor of infancy involving chest wall in an infant: a case report and clinicopathologic correlation. Pediatr Dev Pathol 19(3):244–248CrossRefPubMed
12.
go back to reference Guilbert MC, Rougemont AL, Samson Y, Mac-Thiong JM, Fournet JC, Soglio DBD (2015) Transformation of a primitive myxoid mesenchymal tumor of infancy to an undifferentiated sarcoma: a first reported case. J Pediatr Hematol Oncol 37(2):e118–e120CrossRefPubMed Guilbert MC, Rougemont AL, Samson Y, Mac-Thiong JM, Fournet JC, Soglio DBD (2015) Transformation of a primitive myxoid mesenchymal tumor of infancy to an undifferentiated sarcoma: a first reported case. J Pediatr Hematol Oncol 37(2):e118–e120CrossRefPubMed
13.
go back to reference Lam J, Lara-Corrales I, Cammisuli S et al (2010) Primitive myxoid mesenchymal tumor of infancy ina preterm infant. Pediatr Dermatol 27:635–637CrossRefPubMed Lam J, Lara-Corrales I, Cammisuli S et al (2010) Primitive myxoid mesenchymal tumor of infancy ina preterm infant. Pediatr Dermatol 27:635–637CrossRefPubMed
14.
go back to reference Cramer SL, Li R, Ali S, Bradley JA, Kim HK, Pressey JG (2017) Successful treatment of recurrent primitive myxoid mesenchymal tumor of infancy with BCOR internal tandem duplication. J Natl Compr Cancer Netw 15(7):868–871CrossRef Cramer SL, Li R, Ali S, Bradley JA, Kim HK, Pressey JG (2017) Successful treatment of recurrent primitive myxoid mesenchymal tumor of infancy with BCOR internal tandem duplication. J Natl Compr Cancer Netw 15(7):868–871CrossRef
15.
go back to reference 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):21–29CrossRefPubMed 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):21–29CrossRefPubMed
Metadata
Title
Primitive myxoid mesenchymal tumor of infancy with brain metastasis: first reported case
Authors
Amna Afzal Saeed
Quratulain Riaz
Nasir Ud Din
Sadaf Altaf
Publication date
01-02-2019
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 2/2019
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-018-3964-x

Other articles of this Issue 2/2019

Child's Nervous System 2/2019 Go to the issue