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Primary Oropharyngeal SMARCA4-Deficient Carcinoma: Expanding the Diagnostic Spectrum in Head and Neck Cancer

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Abstract

With the advent of molecular immunohistochemistry and next generation sequencing, Switch/sucrose non-fermentable (SWI/SNF) chromatin remodeling complex altered tumors have gained recognition recently. SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily B member 1 (SMARCB1) and SMARCA4 are the primary SWI/SNF components altered in several recently described undifferentiated malignancies in head and neck region with predilection for paranasal sinuses in SMARCB1-deficient tumors and nasal cavity in SMARCA4-deficient tumors. However, to the best of our knowledge, SMARCA4-deficient tumors of the oropharynx have not been described. We present an unusual case of SMARCA4-deficient carcinoma of the oropharynx (palatine tonsil) which is the first case in the literature, expanding the topographic distribution of SMARCA4-deficient tumors in the head and neck region and emphasizing the importance of BRG1 as an essential immunohistochemical marker for the diagnosis of this distinct entity.

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Availability of data and material is possible upon reasonable request, de-identified for maintenance of anonymity and compliance with IRB approval.

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Acknowledgements

The authors wish to thank Ms. Pooja for technical support in performing IHC stains and Ms Neelima for preparing the manuscript draft.

Funding

The authors neither received support from any organization for the submitted work, nor was there any funding to conduct the study or to assist with manuscript preparation.

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Authors

Contributions

1. Substantial contributions to conception and design, or acquisition of data, or analysis and interpretation of data—Dr. SP, Dr. SG, Dr. MK, Dr. HD, Dr. MG, Dr. JSS, Dr. MG, Dr. AM. 2. Drafting the article and revising it critically for important intellectual content—Dr. SP, Dr. MK, Dr. HD, Dr. AM. 3. Final approval of the version to be published—Dr. SP, Dr. MK, Dr. HD.

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Correspondence to Himanshi Diwan.

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All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest or non-financial interest in the subjectmatter or materials discussed in this manuscript.

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All procedures performed in this study involving human participants were inaccordance with the ethical standards of the institutional and/or national research committee andwith the 1964 Helsinki declaration and its later amendments or comparable ethical standards.The study was approved by the Institutional Review Board (Rajiv Gandhi Cancer Institute &Research Centre), vide the ethical approval letter number Res/SCM/59/2023/63)

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Pasricha, S., Goyal, S., Kamboj, M. et al. Primary Oropharyngeal SMARCA4-Deficient Carcinoma: Expanding the Diagnostic Spectrum in Head and Neck Cancer. Head and Neck Pathol 18, 16 (2024). https://doi.org/10.1007/s12105-024-01614-9

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  • DOI: https://doi.org/10.1007/s12105-024-01614-9

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