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Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022. Emerging Bone and Soft Tissue Neoplasms in the Head and Neck Region

  • Proceeding of the North American Society of Head and Neck Pathology Companion Meeting, March 20, 2022, Los Angeles, CA
  • Published:
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Abstract

In the past decade, several emerging bone and soft tissue neoplasms of the head and neck region have been described in the literature, including GLI1-altered mesenchymal tumors, (intraosseous) rhabdomyosarcoma with TFCP2 fusion, and adamantinoma-like Ewing sarcoma. This review provides a summary of the clinical features, histologic characteristics, immunoprofile, key diagnostic features, and differential diagnoses of these emerging entities. Notably, all three entities show epithelioid morphology and cytokeratin immunopositivity, highlighting the need to consider these mesenchymal neoplasms in the differential diagnoses of cytokeratin-positive epithelioid tumors in the head and neck region. Appropriate workups including detection of the characteristic molecular alterations are essential for the correct diagnosis.

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References

  1. Dahlen A, Fletcher CD, Mertens F, Fletcher JA, Perez-Atayde AR, et al. Activation of the GLI oncogene through fusion with the beta-actin gene (ACTB) in a group of distinctive pericytic neoplasms: pericytoma with t(7;12). Am J Pathol. 2004;164:1645–53.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Kerr DA, Pinto A, Subhawong TK, Wilky BA, Schlumbrecht MP, et al. Pericytoma With t(7;12) and ACTB-GLI1 Fusion: Reevaluation of an Unusual Entity and its Relationship to the Spectrum of GLI1 Fusion-related Neoplasms. Am J Surg Pathol. 2019;43:1682–92.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Antonescu CR, Agaram NP, Sung YS, Zhang L, Swanson D, et al. A distinct malignant epithelioid neoplasm with GLI1 gene rearrangements, frequent S100 protein expression, and metastatic potential: expanding the spectrum of pathologic entities with ACTB/MALAT1/PTCH1-GLI1 Fusions. Am J Surg Pathol. 2018;42:553–60.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Xu B, Chang K, Folpe AL, Kao YC, Wey SL, et al. Head and neck mesenchymal neoplasms with GLI1 gene alterations: a pathologic entity with distinct histologic features and potential for distant metastasis. Am J Surg Pathol. 2020;44:729–37.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Agaram NP, Zhang L, Sung YS, Singer S, Stevens T, et al. GLI1-amplifications expand the spectrum of soft tissue neoplasms defined by GLI1 gene fusions. Modern Pathol. 2019;32:1617–26.

    Article  CAS  Google Scholar 

  6. Nitta Y, Takeda M, Fujii T, Itami H, Tsukamoto S, et al. A case of pericytic neoplasm in the shoulder with a novel DERA-GLI1 gene fusion. Histopathology. 2021;78:466–9.

    Article  PubMed  Google Scholar 

  7. Lopez-Nunez O, Surrey LF, Alaggio R, Herradura A, McGough RL, et al. Novel APOD-GLI1 rearrangement in a sarcoma of unknown lineage. Histopathology. 2021;78:338–40.

    Article  PubMed  Google Scholar 

  8. Bridge JA, Sanders K, Huang D, Nelson M, Neff JR, et al. Pericytoma with t(7;12) and ACTB-GLI1 fusion arising in bone. Hum Pathol. 2012;43:1524–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Klubíčková N, Kinkor Z, Michal M, Baněčková M, Hájková V, et al., (2021) Epithelioid soft tissue neoplasm of the soft palate with a PTCH1-GLI1 Fusion: a case report and review of the literature. Head and Neck Pathol

  10. Dahlen A, Mertens F, Mandahl N, Panagopoulos I. Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12). Biochem Biophys Res Commun. 2004;325:1318–23.

    Article  CAS  PubMed  Google Scholar 

  11. Dickson BC, Antonescu CR, Argyris PP, Bilodeau EA, Bullock MJ, et al. Ectomesenchymal chondromyxoid tumor: a neoplasm characterized by recurrent RREB1-MKL2 fusions. Am J Surg Pathol. 2018;42:1297–305.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Smith BC, Ellis GL, Meis-Kindblom JM, Williams SB. Ectomesenchymal chondromyxoid tumor of the anterior tongue. Nineteen cases of a new clinicopathologic entity. Am J Surg Pathol. 1995;19:519–30.

    Article  CAS  PubMed  Google Scholar 

  13. Bubola J, Hagen K, Blanas N, Weinreb I, Dickson BC, et al. Expanding awareness of the distribution and biologic potential of ectomesenchymal chondromyxoid tumor. Head Neck Pathol. 2021;15:319–22.

    Article  PubMed  Google Scholar 

  14. 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;79:347–57.

    Article  PubMed  Google Scholar 

  15. Le Loarer F, Cleven AHG, Bouvier C, Castex MP, Romagosa C, et al. A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation. Modern. 2020;33:404–19.

    Google Scholar 

  16. Agaram NP, Zhang L, Sung YS, Cavalcanti MS, Torrence D, et al. Expanding the spectrum of intraosseous rhabdomyosarcoma: correlation between 2 distinct gene fusions and phenotype. Am J Surg Pathol. 2019;43:695–702.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Watson S, Perrin V, Guillemot D, Reynaud S, Coindre JM, et al. Transcriptomic definition of molecular subgroups of small round cell sarcomas. J Pathol. 2018;245:29–40.

    Article  CAS  PubMed  Google Scholar 

  18. Dashti NK, Wehrs RN, Thomas BC, Nair A, Davila J, et al. Spindle cell rhabdomyosarcoma of bone with FUS-TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype. Histopathology. 2018;73:514–20.

    Article  PubMed  Google Scholar 

  19. (2020) WHO Classification of Tumours Editorial Board. WHO classification of tumours of soft tissue and bone. World Health Organiz Classif Tumours

  20. Prieto-Granada CN, Xu B, Alzumaili B, Al Rasheed MRH, Eskander A, et al. Clinicopathologic features and outcome of head and neck mucosal spindle cell squamous cell carcinoma. Virchows Arch. 2021;479:729–39.

    Article  CAS  PubMed  Google Scholar 

  21. Thompson LD, Wieneke JA, Miettinen M, Heffner DK. Spindle cell (sarcomatoid) carcinomas of the larynx: a clinicopathologic study of 187 cases. Am J Surg Pathol. 2002;26:153–70.

    Article  PubMed  Google Scholar 

  22. Viswanathan S, Rahman K, Pallavi S, Sachin J, Patil A, et al. Sarcomatoid (spindle cell) carcinoma of the head and neck mucosal region: a clinicopathologic review of 103 cases from a tertiary referral cancer centre. Head Neck Pathol. 2010;4:265–75.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Bridge JA, Fidler ME, Neff JR, Degenhardt J, Wang M, et al. Adamantinoma-like Ewing’s sarcoma: genomic confirmation, phenotypic drift. Am J Surg Pathol. 1999;23:159–65.

    Article  CAS  PubMed  Google Scholar 

  24. Rooper LM, Bishop JA, (2020) Soft tissue special issue: adamantinoma-like ewing sarcoma of the head and neck: a practical review of a challenging emerging entity. Head Neck Pathol 14:59–69

  25. Rooper LM, Jo VY, Antonescu CR, Nose V, Westra WH, et al. Adamantinoma-like ewing sarcoma of the salivary glands: a newly recognized mimicker of basaloid salivary carcinomas. Am J Surg Pathol. 2019;43:187–94.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Bishop JA, Alaggio R, Zhang L, Seethala RR, Antonescu CR. Adamantinoma-like Ewing family tumors of the head and neck: a pitfall in the differential diagnosis of basaloid and myoepithelial carcinomas. Am J Surg Pathol. 2015;39:1267–74.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Weinreb I, Goldstein D, Perez-Ordoñez B. Primary extraskeletal Ewing family tumor with complex epithelial differentiation: a unique case arising in the lateral neck presenting with Horner syndrome. Am J Surg Pathol. 2008;32:1742–8.

    Article  PubMed  Google Scholar 

  28. Ongkeko M, Zeck J, de Brito P. Molecular testing uncovers an adamantinoma-like ewing family of tumors in the thyroid: case report and review of literature. AJSP: Rev Rep. 2018;23:8–12.

    Google Scholar 

  29. Oliveira G, Polónia A, Cameselle-Teijeiro JM, Leitão D, Sapia S, et al. EWSR1 rearrangement is a frequent event in papillary thyroid carcinoma and in carcinoma of the thyroid with Ewing family tumor elements (CEFTE). Virchows Arch. 2017;470:517–25.

    Article  CAS  PubMed  Google Scholar 

  30. McCuiston A, Bishop JA. Usefulness of NKX2.2 immunohistochemistry for distinguishing ewing sarcoma from other sinonasal small round blue cell tumors. Head Neck Pathol. 2018;12:89–94.

    Article  PubMed  Google Scholar 

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Funding

Research reported in this publication was supported in part by the Cancer Center Support Grant of the National Institutes of Health/National Cancer Institute under award number P30CA008748.

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  1. Department of Pathology and Laboratory Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA

    Bin Xu

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Xu, B. Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022. Emerging Bone and Soft Tissue Neoplasms in the Head and Neck Region. Head and Neck Pathol 16, 158–167 (2022). https://doi.org/10.1007/s12105-022-01418-9

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