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SMARCB1-결핍 비부비동암 - 증례 보고 및 문헌 고찰

SMARCB1-Deficient Sinonasal Carcinoma–A Case Report and Literature Review

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초록

Switch/sucrose non-fermentable-related matrix-associated actin-dependent regulator of chro-matin subfamily B member 1 (SMARCB1)-deficient sinonasal carcinoma is a rare subtype ofsinonasal undifferentiated carcinoma (SNUC). Due to the highly aggressive nature of the dis-ease course, it is important to diagnose early and use multimodal treatments in the course ofthe disease. Two main morphologic patterns are commonly identified under the microscope:plasmacytoid/rhabdoid and basaloid. Furthermore, it demonstrates a total absence of integraseinteractor 1 expression upon immunohistochemical staining. Here, we present two cases ofSMARCB1-deficient sinonasal carcinoma with contrasting outcomes.

Abstract

Switch/sucrose non-fermentable-related matrix-associated actin-dependent regulator of chro-matin subfamily B member 1 (SMARCB1)-deficient sinonasal carcinoma is a rare subtype ofsinonasal undifferentiated carcinoma (SNUC). Due to the highly aggressive nature of the dis-ease course, it is important to diagnose early and use multimodal treatments in the course ofthe disease. Two main morphologic patterns are commonly identified under the microscope:plasmacytoid/rhabdoid and basaloid. Furthermore, it demonstrates a total absence of integraseinteractor 1 expression upon immunohistochemical staining. Here, we present two cases ofSMARCB1-deficient sinonasal carcinoma with contrasting outcomes.

참고문헌 (14)

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  4. Agaimy A, "SMARCB1(INI1)-deficient sinonasal basaloid carcinoma : A novel member of the expanding family of SMARCB1-deficient neoplasms", Am J Surg Pathol, 38(9), pp.1274~1281 (2014)
  5. Bishop JA, "SMARCB1(INI-1)-deficient carcinomas of the sinonasal tract", Am J Surg Pathol, 38(9), pp.1282~1289 (2014)
  6. Yang H, "SMARCB1 (INI-1)-deficient sinonasal carcinoma: A case report and literature review", Ear Nose Throat J (2022)
  7. Wasserman JK, "INI1(SMARCB1)-deficient sinonasal carcinoma : A clinicopathologic report of 2 cases", Head Neck Pathol, 11(2), pp.256~261 (2017)
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  9. Bell D, "Reappraisal of sinonasal undifferentiated carcinoma : SMARCB1(INI1)-deficient sinonasal carcinoma : A single-institution experience", Virchows Arch, 467(6), pp.649~656 (2015)
  10. Jamshidi F, "Diagnostic value of next-generation sequencing in an unusual sphenoid tumor", Oncologist, 19(6), pp.623~630 (2014)
  11. Shatzkes DR, "Imaging appearance of SMARCB1(INI1)-deficient sinonasal carcinoma : A newly described sinonasal malignancy", AJNR Am J Neuroradiol, 37(10), pp.1925~1929 (2016)
  12. Zeng M, "SMARCB1(INI1)-deficient sinonasal carcinoma : A newly described entity", Int J Clin Exp Pathol, 9(3), pp.3454~3458 (2016)
  13. Khan MN, "Treatment modalities in sinonasal undifferentiated carcinoma : An analysis from the national cancer database", Int Forum Allergy Rhinol, 7(2), pp.205~210 (2017)
  14. Chitguppi C, "Loss of SMARCB1 expression confers poor prognosis to sinonasal undifferentiated carcinoma", J Neurol Surg B Skull Base, 81(6), pp.610~619 (2020)

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