OncoTargets and Therapy (2021-03-01)

Case Report: SMARCB1 (INI-1)-Deficient Carcinoma of the Nasal Cavity with Pure Yolk Sac Tumor Differentiation and Elevated Serum AFP Levels

  • Li CY,
  • Han Y,
  • Xu K,
  • Wu S,
  • Lin XY,
  • Cao H

Journal volume & issue
Vol. Volume 14
pp. 2227 – 2233

Abstract

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Chun-Yu Li, Ya-mei Han, Ke Xu, Shu-yue Wu, Xu-Yong Lin, Hong-yi Cao Department of Pathology, The First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, 110001, People’s Republic of ChinaCorrespondence: Hong-yi CaoDepartment of Pathology, The First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, 110001, People’s Republic of ChinaEmail [email protected]: In adults, yolk sac tumors (YSTs) in the nasal cavity and paranasal sinuses are very rare. To date, only six cases have been reported in the English literature. YSTs in adults are often accompanied by cancer, teratocarcinosarcoma, and other malignant components. Here, we have reported a case of nasal tumor in a 55-year-old man with nasal obstruction and epistaxis. Morphologically, the tumor showed histological characteristics of pure YST. Immunohistochemical staining showed diffuse expression of SALL4, CDX2, and GPC-3 accompanied by sporadic expression of alpha-fetoprotein (AFP) and CD117. After 20 and 40 days of operation, the serum AFP level was 220.30 and 43.60 ng/mL (normal, < 7 ng/mL), respectively, which supported the pathological diagnosis of YST. However, we further performed immunohistochemical staining and fluorescence in situ hybridization using an INI-1 probe to detect the status of INI-1 in tumor cells. The results revealed that INI-1 was absent in tumor cells. Hence, we corrected the diagnosis to SMARCB1 (INI-1)-deficient carcinoma of the nasal cavity with YST differentiation. The patient underwent surgery and adjuvant radiotherapy in our hospital without evidence of recurrence or metastasis at the 6-month follow-up. The serum AFP level had also normalized. In conclusion, our case demonstrates that INI-1-deficient carcinoma may exhibit, a pure YST differentiation and immunophenotype, and elevated serum AFP levels. In adults, YST in the nasal cavity may represent INI-1-deficient carcinoma, which may be a potential diagnostic pitfall.Keywords: yolk sac tumor, SMARCB1 (INI-1)-deficient carcinoma, sinonasal carcinoma, gonadal germ cell tumor, INI-1

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