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Case Report Open Access

Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report

  • Authors:
    • Xinyi Zhang
    • Wei Yuan
    • Lei Ren
    • Chen Xu
    • Yingyong Hou
  • View Affiliations / Copyright

    Affiliations: Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, P.R. China
    Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 15
    |
    Published online on: November 18, 2025
       https://doi.org/10.3892/br.2025.2088
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Abstract

Seminoma, derived from germ cell neoplasia in situ, is the most common testicular germ cell neoplasm. Seminoma exhibits overlapping genetic mutations and immunohistochemical profiles with diverse tumors, substantially complicating diagnosis, particularly in biopsy specimens. In the present study a patient was reported, harboring a huge abdominal mass, who was initially diagnosed as an epithelioid gastrointestinal stromal tumor via biopsy pathology due to CD117 immunohistochemical expression and detection of KIT mutation in exon 17 (p.Y823D). After first‑to fourth‑line targeted therapies, the patient exhibited rapid tumor progression, promoting diagnostic reevaluation. Definitive diagnosis of seminoma was established through expanded immunohistochemistry (OCT4+/SALL4+/PLAP+/D2‑40+) and molecular confirmation of the characteristic KIT p.D816Y mutation, which concurrently explains the observed imatinib resistance. In conclusion, the findings of the present study highlighted the imperative of integrating morphology, immunohistochemistry and context‑specific molecular profiling to avoid diagnostic in CD117‑positive tumors.
View Figures

Figure 1

Histological findings in this case.
(A) Tumor cells were diffusely distributed, with scattered
lymphocyte infiltration. (B) Tumor cells exhibited significant
atypia, showing deeply stained nuclei and increased nucleoplasmic
ratio.

Figure 2

Immunohistochemistry for (A) CD117
(positive), (B) CD34 (negative), (C) DOG-1 (negative), (D) SMA
(negative), (E) Des (negative) and (F) S-100 (negative).

Figure 3

Immunohistochemistry for (A) LCA
(positive in lymphocytes), (B) CD3 (positive in lymphocytes), (C)
CK7 (negative), (D) CgA (negative), (E) Calretinin (negative) and
(F) D2-40 (positive).

Figure 4

Immunohistochemistry for (A) CD163
(positive), (B) p63 (negative), (C) SOX17 (positive), (D) OCT4
(negative), (E) SALL4 (positive) and (F) PLAP (positive).

Figure 5

NGS analysis revealed KIT p.816V
mutation.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Zhang X, Yuan W, Ren L, Xu C and Hou Y: Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report. Biomed Rep 24: 15, 2026.
APA
Zhang, X., Yuan, W., Ren, L., Xu, C., & Hou, Y. (2026). Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report. Biomedical Reports, 24, 15. https://doi.org/10.3892/br.2025.2088
MLA
Zhang, X., Yuan, W., Ren, L., Xu, C., Hou, Y."Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report". Biomedical Reports 24.1 (2026): 15.
Chicago
Zhang, X., Yuan, W., Ren, L., Xu, C., Hou, Y."Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report". Biomedical Reports 24, no. 1 (2026): 15. https://doi.org/10.3892/br.2025.2088
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang X, Yuan W, Ren L, Xu C and Hou Y: Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report. Biomed Rep 24: 15, 2026.
APA
Zhang, X., Yuan, W., Ren, L., Xu, C., & Hou, Y. (2026). Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report. Biomedical Reports, 24, 15. https://doi.org/10.3892/br.2025.2088
MLA
Zhang, X., Yuan, W., Ren, L., Xu, C., Hou, Y."Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report". Biomedical Reports 24.1 (2026): 15.
Chicago
Zhang, X., Yuan, W., Ren, L., Xu, C., Hou, Y."Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report". Biomedical Reports 24, no. 1 (2026): 15. https://doi.org/10.3892/br.2025.2088
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