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

To investigate the clinical-pathological features, immunophenotype, and diagnostic criteria of metaplastic thymoma (MT) and distinguish it from pulmonary mucoepidermoid carcinoma (PEMC).

Approach:
  • Case Study: Clinical data from a single patient with surgically confirmed metaplastic thymoma were collected, including histological examination, immunohistochemical staining, and molecular testing.
Key Findings:
  • Thepatientwasamiddle-agedwomanwithrecurrentchesttightnessandamisdiagnosisofpulmonarymucoepidermoidcarcinoma.Postoperativepathologicalanalysisrevealedatumorwithbenignepithelioidandspindlecells,characterizedbyspecificimmunohistochemicalmarkers:CD117(–),CD20(–),CD3(speckled+),CD34(–),CD5(speckled+),CD99(–),CK20(–),CK7(partial+),EMA(spindlecells+;epithelioidcellsspeckledperinuclearly+),Ki67(5%+),P53(80%+),P63(+),Syn(–),TDT(–).MoleculartestingdetectedYAP1-MAML2genebreak-uprearrangement.
Interpretation:

Metaplastic thymoma is a rare subtype of thymoma that requires careful integration of clinical, histological, immunohistochemical, and molecular data for accurate diagnosis.

Limitations:
  • Thestudyisbasedonasinglecase,whichlimitsthegeneralizabilityofthefindingsandmayintroducepotentialdiagnosticbiasorinaccuraciesinbiopsysampling.
Conclusion:

Accurate diagnosis of metaplastic thymoma necessitates a comprehensive approach that includes clinical presentation, microscopic morphology, immunohistochemical features, and molecular biology data.

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