A Case Report of Primitive Myxoid Mesenchymal Tumor of Infancy (PMMTI) with -ITD Genetic Alteration in the Sinonasal Cavity and Review of Literature

Kumari S, Pandey S, Verma M, Rana AK, Kumari S et al (2022) Clinicopathological challenges in tumors of the nasal cavity and paranasal sinuses: our experience. Cureus 14(9):e29128. https://doi.org/10.7759/cureus.29128PMID:36259025;PMCID:PMC9559984

Article  PubMed  PubMed Central  Google Scholar 

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):388–394. https://doi.org/10.1097/01.pas.0000190784.18198.d8

Article  PubMed  Google Scholar 

Kao YC, Sung YS, Zhang L, Huang SC, Argani P, Chung CT et al (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):1009–1020. https://doi.org/10.1097/PAS.0000000000000629

Article  PubMed  PubMed Central  Google Scholar 

WHO Classification of Pediatric Tumors (2023) WHO classification of tumours: Paediatric tumours, 5th edn. International Agency for Research on Cancer, Lyon

Google Scholar 

Mulligan L, O’Meara A, Orr D, Eadie P, Hayes R, McDermott M (2011) Primitive myxoid mesenchymal tumor of infancy: a report of a further case with locally aggressive behavior. Pediatr Dev Pathol 14(1):75–79. https://doi.org/10.2350/09-12-0770-CR.1

Article  PubMed  Google Scholar 

Haga M, Motojima Y, Masuda W, Fujino T, Tamaru JI, Nakamura T et al (2023) Primitive myxoid mesenchymal tumor of infancy with fatal hemorrhage in utero: a case report and literature review. J Pediatr Hematol Oncol 45(1):e135–e138. https://doi.org/10.1097/MPH.0000000000002474

Article  PubMed  Google Scholar 

Lam J, Lara-Corrales I, Cammisuli S, Somers GR, Pope E (2010) Primitive myxoid mesenchymal tumor of infancy in a preterm infant. Pediatr Dermatol 27(6):635–637. https://doi.org/10.1111/j.1525-1470.2010.01323.x

Article  PubMed  Google Scholar 

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):549–553. https://doi.org/10.1111/j.1440-1827.2012.02836.x

Article  PubMed  Google Scholar 

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):109–113. https://doi.org/10.1007/s00795-013-0032-1

Article  PubMed  Google Scholar 

Saito A, Taketani T, Kanai R, Kanagawa T, Kumori K, Yamamoto N et al (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–e282. https://doi.org/10.1097/MPH.0b013e31829182bb

Article  PubMed  Google Scholar 

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):647–651. https://doi.org/10.1177/1066896913509006

Article  PubMed  Google Scholar 

Guilbert MC, Rougemont AL, Samson Y, Mac-Thiong JM, Fournet JC, Soglio DB (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–e120. https://doi.org/10.1097/MPH.0000000000000107

Article  PubMed  Google Scholar 

Cuthbertson DW, Caceres K, Hicks J, Friedman EM (2014) A cooperative approach to diagnosis of rare diseases: primitive myxoid mesenchymal tumor of infancy. Ann Clin Lab Sci 44(3):310–316

PubMed  Google Scholar 

Foster JH, Vasudevan SA, John Hicks M, 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):244–248. https://doi.org/10.2350/15-05-1644-CR.1

Article  PubMed  Google Scholar 

Santiago T, Clay MR, Allen SJ, Orr BA (2018) Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma. Mod Pathol 31(2):374. https://doi.org/10.1038/modpathol.2017.178

Article  PubMed  CAS  Google Scholar 

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 Canc Netw 15(7):868–871. https://doi.org/10.6004/jnccn.2017.0124

Article  PubMed  Google Scholar 

Chacon D, Correa C, Luengas JP (2018) Mesenteric primitive myxoid mesenchymal tumor in a 7-month-old boy. J Pediatr Hematol Oncol 40(4):e260–e262. https://doi.org/10.1097/MPH.0000000000000945

Article  PubMed  Google Scholar 

Saeed AA, Riaz Q, Din NU, Altaf S (2019) Primitive myxoid mesenchymal tumor of infancy with brain metastasis: first reported case. Childs Nerv Syst 35(2):363–368. https://doi.org/10.1007/s00381-018-3964-x

Article  PubMed  Google Scholar 

Asaftei SD, Campello A, Tirtei E, Colombo S, Vallero S, Boffano M et al (2020) Management of unresectable metastatic primitive myxoid mesenchymal tumor of infancy: a case report and systematic review of the literature. J Pediatr Hematol Oncol 42(3):163–169. https://doi.org/10.1097/MPH.0000000000001764

Article  PubMed  Google Scholar 

Essaoudi MA, Khmou M, Elkababri M, Rouas L, Hessissen L, Lamalmi N (2022) Primitive myxoid mesenchymal tumor of infancy: case report and review of the literature. Ann Pathol 42(6):458–461. https://doi.org/10.1016/j.annpat.2021.12.005

Article  PubMed  Google Scholar 

Sachdeva KS, Shrivastav V (2022) Primitive myxoid mesenchymal tumour of nose. Indian J Otolaryngol Head Neck Surg 74(Suppl 2):929–936. https://doi.org/10.1007/s12070-020-01995-7

Article  PubMed  Google Scholar 

Taimur F, Akbar M, Manzoor A, Afghani T, Asif M (2023) Primitive myxoid mesenchymal tumours of infancy: first case surrounding the optic nerve. Can J Ophthalmol 58(2):e90–e92. https://doi.org/10.1016/j.jcjo.2022.07.002

Article  PubMed  Google Scholar 

Raved D, Villani A, Hopyan S, Chen H, German A, Gupta AA (2023) Primitive myxoid mesenchymal tumor of infancy with brain metastasis case report and literature review. J Pediatr Hematol Oncol 45(8):e980–e983. https://doi.org/10.1097/MPH.0000000000002721

Article  PubMed  Google Scholar 

Goswami M (2024) Primitive myxoid mesenchymal tumor of infancy, an enigmatic entity: a case report. Indian J Pathol Microbiol 67(4):932–935. https://doi.org/10.4103/ijpm.ijpm_471_23

Article  PubMed  Google Scholar 

Yener S, Tosun İ, Yıldız ZA, Zemheri IE, İlçe Z (2025) Primitive myxoid mesenchymal tumor of infancy presenting with an abdominal and thoracic mass misdiagnosed as neuroblastoma: a case report. Indian J Pathol Microbiol 68(3):596–599. https://doi.org/10.4103/ijpm.ijpm_728_23

Article  PubMed  Google Scholar 

Kao YC, Sung YS, Zhang L, Jungbluth AA, Huang SC, Argani P et al (2016) BCOR overexpression is a highly sensitive marker in round cell sarcomas with BCOR genetic abnormalities. Am J Surg Pathol 40(12):1670–1678. https://doi.org/10.1097/PAS.0000000000000697

Article  PubMed  PubMed Central  Google Scholar 

Chen S, Gallant S, Cunningham MJ, Robson CD, Church AJ, Perez-Atayde AR et al (2023) CTNNB1 and APC mutations in sinonasal myxoma: expanding the spectrum of tumors driven by WNT/β-catenin pathway. Am J Surg Pathol 47(11):1291–1300. https://doi.org/10.1097/PAS.0000000000002112

Article  PubMed  Google Scholar 

Shern JF, Yohe ME, Khan J (2015) Pediatric rhabdomyosarcoma. Crit Rev Oncog 20(3–4):227–243. https://doi.org/10.1615/critrevoncog.2015013800

Article  PubMed  PubMed Central  Google Scholar 

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