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病例报告:鼻腔 SMARCB1(INI-1)缺陷型癌,伴有纯卵黄囊肿瘤分化和血清 AFP 水平升高
Authors Li CY, Han Y, Xu K, Wu S, Lin XY, Cao H
Received 18 January 2021
Accepted for publication 11 March 2021
Published 29 March 2021 Volume 2021:14 Pages 2227—2233
DOI https://doi.org/10.2147/OTT.S302613
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 4
Editor who approved publication: Prof. Dr. Nicola Silvestris
Abstract: 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