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Research Articles

Intraosseous Spindle Cell Rhabdomyosarcoma with MEIS1::NCOA2 Fusion – Case Report with Substantial Clinical Follow-up and Review of the Literature

ORCID Icon, , , , & ORCID Icon
Pages 704-712 | Received 28 Jul 2023, Accepted 01 Sep 2023, Published online: 06 Sep 2023

References

  • WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. Lyon (France): International Agency for Research on Cancer; 2020. https://tumourclassification.iarc.who.int/chapters/33.
  • Alaggio R, Zhang L, Sung YS, Huang SC, Chen CL, Bisogno G, et al. A Molecular Study of Pediatric Spindle and Sclerosing Rhabdomyosarcoma: Identification of Novel and Recurrent VGLL2-related Fusions in Infantile Cases. Am J Surg Pathol. 2016;40(2):224–235. doi:10.1097/PAS.0000000000000538.
  • Mosquera JM, Sboner A, Zhang L, Kitabayashi N, Chen CL, Sung YS, et al. Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. Genes Chromosomes Cancer. 2013;52(6):538–550 doi:10.1002/gcc.22050.
  • Agaram NP, LaQuaglia MP, Alaggio R, Zhang L, Fujisawa Y, Ladanyi M, et al. MYOD1-mutant spindle cell and sclerosing rhabdomyosarcoma: an aggressive subtype irrespective of age. A reappraisal for molecular classification and risk stratification. Mod Pathol. 2019;32(1):27–36. doi:10.1038/s41379-018-0120-9.
  • Rekhi B, Upadhyay P, Ramteke MP, Dutt A. MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes. Mod Pathol. 2016;29(12):1532–1540. doi:10.1038/modpathol.2016.144.
  • Le Loarer F, Cleven AHG, Bouvier C, Castex MP, Romagosa C, Moreau A, et al. A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation. Mod Pathol. 2020;33(3):404–419. doi:10.1038/s41379-019-0323-8.
  • Xu B, Suurmeijer AJH, Agaram NP, Zhang L, Antonescu CR. Head and neck rhabdomyosarcoma with TFCP2 fusions and ALK overexpression: a clinicopathological and molecular analysis of 11 cases. Histopathology. 2021;79(3):347–357. doi:10.1111/his.14323.
  • Agaram NP, Zhang L, Sung YS, Cavalcanti MS, Torrence D, Wexler L, et al. Expanding the Spectrum of Intraosseous Rhabdomyosarcoma: Correlation Between 2 Distinct Gene Fusions and Phenotype. Am J Surg Pathol. 2019;43(5):695–702. doi:10.1097/PAS.0000000000001227.
  • Montoya-Cerrillo DM, Diaz-Perez JA, Velez-Torres JM, Montgomery EA, Rosenberg AE. Novel fusion genes in spindle cell rhabdomyosarcoma: The spectrum broadens. Genes Chromosomes Cancer. 2021;60(10):687–694. doi:10.1002/gcc.22978.
  • Watson S, Perrin V, Guillemot D, Reynaud S, Coindre JM, Karanian M, et al. Transcriptomic definition of molecular subgroups of small round cell sarcomas. J Pathol. 2018;245(1):29–40. doi:10.1002/path.5053.
  • Dashti NK, Wehrs RN, Thomas BC, Nair A, Davila J, Buckner JC, et al. Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. Histopathology. 2018;73(3):514–520. doi:10.1111/his.13649.
  • Whittle S, Venkatramani R, Schonstein A, Pack SD, Alaggio R, Vokuhl C, et al. Congenital spindle cell rhabdomyosarcoma: An international cooperative analysis. Eur J Cancer. 2022;168:56–64. doi:10.1016/j.ejca.2022.03.022.
  • Cyrta J, Gauthier A, Karanian M, Vieira AF, Cardoen L, Jehanno N, et al. Infantile Rhabdomyosarcomas With VGLL2 Rearrangement Are Not Always an Indolent Disease: A Study of 4 Aggressive Cases With Clinical, Pathologic, Molecular, and Radiologic Findings. Am J Surg Pathol. 2021;45(6):854–867. doi:10.1097/PAS.0000000000001702.
  • Kohsaka S, Shukla N, Ameur N, Ito T, Ng CK, Wang L, et al. A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. Nat Genet. 2014;46(6):595–600. doi:10.1038/ng.2969.
  • Szuhai K, de Jong D, Leung WY, Fletcher CD, Hogendoorn PC. Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. J Pathol. 2014;232(3):300–307. doi:10.1002/path.4307.
  • Agaram NP, Chen CL, Zhang L, LaQuaglia MP, Wexler L, Antonescu CR. Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. Genes Chromosomes Cancer. 2014;53(9):779–787. doi:10.1002/gcc.22187.
  • Tagami Y, Sugita S, Kubo T, Iesato N, Emori M, Takada K, et al. Spindle cell rhabdomyosarcoma in a lumbar vertebra with FUS-TFCP2 fusion. Pathol Res Pract. 2019;215(8):152399. doi:10.1016/j.prp.2019.03.027.
  • Wong DD, van Vliet C, Gaman A, Giardina T, Amanuel B. Rhabdomyosarcoma with FUS re-arrangement: additional case in support of a novel subtype. Pathology. 2019;51(1):116–120. doi:10.1016/j.pathol.2018.09.056.
  • Koutlas IG, Olson DR, Rawwas J. FET(EWSR1)-TFCP2 Rhabdomyosarcoma: An Additional Example of this Aggressive Variant with Predilection for the Gnathic Bones. Head Neck Pathol. 2021;15(1):374–380. doi:10.1007/s12105-020-01189-1.
  • Argani P, Reuter VE, Kapur P, Brown JE, Sung YS, Zhang L, et al. Novel MEIS1-NCOA2 Gene Fusions Define a Distinct Primitive Spindle Cell Sarcoma of the Kidney. Am J Surg Pathol. 2018;42(11):1562–1570. doi:10.1097/PAS.0000000000001140.
  • Kao YC, Bennett JA, Suurmeijer AJH, Dickson BC, Swanson D, Wanjari P, et al. Recurrent MEIS1-NCOA2/1 fusions in a subset of low-grade spindle cell sarcomas frequently involving the genitourinary and gynecologic tracts. Mod Pathol. 2021;34(6):1203–1212. doi:10.1038/s41379-021-00744-7.
  • Quiroga-Garza GM, Lajara S, Burgess MA, John I. Distant metastatic potential in primary renal sarcoma with MEIS1-NCOA2 gene fusion. Histopathology. 2021;79(1):117–118. doi:10.1111/his.14345.
  • Niu S, Rivera-Colon G, Lucas E. Aggressive High-grade Uterine Sarcoma Harboring MEIS1-NCOA2 Fusion and Amplification of Multiple 12q13-15 Genes: A Case Report With Morphologic, Immunohistochemical, and Molecular Analysis. Int J Gynecol Pathol. 2023;42(5):460–465. doi:10.1097/PGP.0000000000000937.
  • Xing D, Meyer CF, Gross JM, Argani P, Hung CF, Wu TC, et al. Uterine MEIS1::NCOA2 fusion sarcoma with lung metastasis: a case report and review of the literature. Int J Gynecol Pathol. 2023. doi:10.1097/PGP.0000000000000951.

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