Combined immunohistochemistry and FISH testing for diagnosing metaplastic thymoma: a case report of misdiagnosis as pulmonary mucinous epidermoid carcinoma - Report - MDSpire

Combined immunohistochemistry and FISH testing for diagnosing metaplastic thymoma: a case report of misdiagnosis as pulmonary mucinous epidermoid carcinoma

  • By

  • Jiaxin Liu

  • Xiang Yu

  • Wenquan Li

  • Chunhui Shen

  • Zhenhui Wang

  • Jiyong Wang

  • June 24, 2026

  • 0 min

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Clinical Report: Utilizing Immunohistochemistry and FISH for Accurate Diagnosis

Overview

This case study highlights the use of immunohistochemistry and FISH testing in diagnosing metaplastic thymoma, which was initially misdiagnosed as pulmonary mucoepidermoid carcinoma.

Background

Metaplastic thymoma is a rare subtype of thymoma, accounting for less than 1% of all thymomas, and is often misdiagnosed due to its histological similarities with other tumors. Accurate diagnosis is crucial.

Data Highlights

No numerical data or trial data available in the article.

Key Findings

  • Metaplastic thymoma was misdiagnosed as pulmonary mucoepidermoid carcinoma in a middle-aged female patient.
  • Histological examination revealed a tumor with benign epithelioid and spindle cells.
  • Immunohistochemistry showed specific markers, including P53 (80%+) and Ki67 (5%+).
  • Molecular testing identified a YAP1-MAML2 gene rearrangement, supporting the diagnosis of metaplastic thymoma.
  • Integration of clinical presentation, morphology, immunohistochemical features, and molecular data is essential for accurate diagnosis.

Clinical Implications

Clinicians should be aware of the potential for misdiagnosis between metaplastic thymoma and pulmonary mucoepidermoid carcinoma.

Conclusion

Accurate diagnosis of metaplastic thymoma requires integration of clinical, histological, and molecular evaluations.

Related Resources & Content

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  3. asco ai in oncology, 2026 -- Tissue-of-Origin AI Model Identifies Cases of Misdiagnosed Lung Metastases
  4. the asco post, 2026 -- Using AI to Differentiate Primary Lung Squamous Cell Carcinomas From Metastases
  5. Thymomas and Thymic Carcinomas, Version 2.2025, NCCN Clinical Practice Guidelines In Oncology - PubMed
  6. YAP1-MAML2 Fusion as a Diagnostic Biomarker for Metaplastic Thymoma - PMC
  7. Clinical Characteristics, MAML2 Gene Rearrangement and Prognosis of Pulmonary Mucoepidermoid Carcinoma - PMC
  8. Thymomas and Thymic Carcinomas, Version 2.2025, NCCN Clinical Practice Guidelines In Oncology - PubMed
  9. YAP1-MAML2 Fusion as a Diagnostic Biomarker for Metaplastic Thymoma - PMC
  10. Clinical Characteristics, MAML2 Gene Rearrangement and Prognosis of Pulmonary Mucoepidermoid Carcinoma - PMC

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