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Identification of CTNNB1-PLAG1 gene rearrangement in a patient with pulmonary pleomorphic adenoma

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Abstract

Pulmonary pleomorphic adenoma (PA) is a rare salivary gland-type neoplasm, which predominantly occurs in the proximal airway. Rearrangement of the pleomorphic adenoma gene 1 (PLAG1) is the most frequent genetic event in PAs of salivary glands. However, whether pulmonary PA also harbors PLAG1 rearrangement has not been elucidated. Here, we present a case of pulmonary PA, located at the middle lobar bronchus, in a 54-year-old man. CTNNB1-PLAG1 gene fusion was identified by reverse transcription-polymerase chain reaction using formalin-fixed paraffin-embedded tissue (FFPE). Furthermore, immunohistochemical analysis revealed nuclear expression of PLAG1 in all tumor cells. To the best of our knowledge, this is the first reported case of pulmonary PA with CTNNB1-PLAG1 fusion and PLAG1 expression. Our case illustrates the possibility that pulmonary PA could be underpinned by recurrent PLAG1 translocations akin to salivary gland PA.

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References

  1. Travis WD, Brambilla E, Burke A, Marx A, Nicholson AG (2015) WHO classification of tumours of the lung, pleura, thymus and heart. IARC, Lyon

    Google Scholar 

  2. Zhu Z, Lian X, Yang D (2018) Right main bronchial pleomorphic adenoma: a case report and literature review. Medicine (Baltimore) 97:e12648. https://doi.org/10.1097/MD.0000000000012648

    Article  Google Scholar 

  3. Asahina M, Saito T, Hayashi T, Fukumura Y, Mitani K, Yao T (2019) Clinicopathological effect of PLAG1 fusion genes in pleomorphic adenoma and carcinoma ex pleomorphic adenoma with special emphasis on histological features. Histopathology 74:514–525. https://doi.org/10.1111/his.13759

    Article  PubMed  Google Scholar 

  4. Katabi N, Xu B, Jungbluth AA, Zhang L, Shao SY, Lane J, Ghossein R, Antonescu CR (2018) PLAG1 immunohistochemistry is a sensitive marker for pleomorphic adenoma: a comparative study with PLAG1 genetic abnormalities. Histopathology 72:285–293. https://doi.org/10.1111/his.13341

    Article  PubMed  Google Scholar 

  5. Mito JK, Jo VY, Chiosea SI, Dal Cin P, Krane JF (2017) HMGA2 is a specific immunohistochemical marker for pleomorphic adenoma and carcinoma ex-pleomorphic adenoma. Histopathology 71:511–521. https://doi.org/10.1111/his.13246

    Article  PubMed  Google Scholar 

  6. Huo Z, Wu H, Li J, Li S, Wu S, Liu Y, Luo Y, Cao J, Zeng X, Liang Z (2015) Primary pulmonary mucoepidermoid carcinoma: histopathological and moleculargenetic studies of 26 cases. PLoS One 10:e0143169. https://doi.org/10.1371/journal.pone.0143169

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Takamatsu M, Sato Y, Muto M, Nagano H, Ninomiya H, Sakakibara R, Baba S, Sakata S, Takeuchi K, Okumura S, Ishikawa Y (2018) Hyalinizing clear cell carcinoma of the bronchial glands: presentation of three cases and pathological comparisons with salivary gland counterparts and bronchial mucoepidermoid carcinomas. Mod Pathol 31:923–933. https://doi.org/10.1038/s41379-018-0025-7

    Article  PubMed  Google Scholar 

  8. Andreasen S, von Holstein SL, Homoe P, Heegaard S (2018) Recurrent rearrangements of the PLAG1 and HMGA2 genes in lacrimal gland pleomorphic adenoma and carcinoma ex pleomorphic adenoma. Acta Ophthalmol 96:e768–e771. https://doi.org/10.1111/aos.13667

    Article  CAS  PubMed  Google Scholar 

  9. Antonescu CR, Zhang L, Chang NE, Pawel BR, Travis W, Katabi N, Edelman M, Rosenberg AE, Nielsen GP, Dal Cin P, Fletcher CDM (2010) EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene. Genes Chromosom Cancer 49:1114–1124. https://doi.org/10.1002/gcc.20819

    Article  CAS  PubMed  Google Scholar 

  10. Yuan L, Katabi N, Antonescu CR, Golden A, Travis WD, Rekhtman N (2020) Pulmonary myoepithelial tumors with exuberant reactive pneumocytes: proposed reclassification of so-called pneumocytic adenomyoepithelioma. Am J Surg Pathol 44:140–147. https://doi.org/10.1097/PAS.0000000000001376

    Article  PubMed  Google Scholar 

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Funding

This study was supported in part through grants by the Grant-in-Aid for Scientific Research (KAKENHI) program of Japan Society for the Promotion of Science (JSPS) (Grant Number #19K07469), and by the Takeda Science Foundation.

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Contributions

Miki Asahina and Takuo Hayashi conceived and designed the study, and wrote edited and reviewed the manuscript. Kazuya Takamochi and Kenji Suzuki provided and gave patient’s clinical information. Miki Asahina, Takuo Hayashi, Tsuyoshi Saito, Hiroko Onagi, Monami Kishi, Yuki Fukumura, Atsushi Arakawa, and Takashi Yao provided pathological information. All authors gave final approval for publication. Takuo Hayashi takes full responsibility for the work as a whole, including the study design, access to data, and the decision to submit and publish the manuscript.

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Correspondence to Takuo Hayashi.

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Asahina, M., Hayashi, T., Takamochi, K. et al. Identification of CTNNB1-PLAG1 gene rearrangement in a patient with pulmonary pleomorphic adenoma. Virchows Arch 477, 739–742 (2020). https://doi.org/10.1007/s00428-020-02810-y

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  • DOI: https://doi.org/10.1007/s00428-020-02810-y

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