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The evolving role of molecular pathology in the diagnosis of salivary gland tumours with potential pitfalls

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Abstract

Salivary gland tumors are diagnostically challenging owing to the morphological diversity within any tumor type and overlapping histomorphology and immunohistochemistry amongst different tumours. In past two decades, rapid progress has been made in the field of understanding the pathogenesis of these tumours with the discovery of many tumour specific translocations and rearrangements. This includes CRTC1-MAML2 and CRTC-MAML2 in mucoepidermoid carcinoma, MYBNFIB and MYBL1-NFIB fusions in adenoid cystic carcinoma, PLAG1 and HMGA2 in pleomorphic adenoma, ETV6-NTRK3 in secretory carcinoma, NR4A3 rearrangements in acinic cell carcinoma, PRKD1 mutations in polymorphous adenocarcinoma and EWSR1-ATF1 in clear cell carcinoma. This review is a lens for progress made till date in the molecular pathology of salivary gland tumours with a special focus on their role as diagnostic tools and implications on clinical management of the patient as prognostic and predictive markers.

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Abbreviations

MEC::

Mucoepidermoid Carcinoma

AdCC::

Adenoid Cystic Carcinoma

AciCC::

Acinic Cell Carcinoma

PA::

Pleomorphic Adenoma

BCA::

Basal Cell Adenoma

PAC::

Polymorphous Adenocarcinoma

SDC::

Salivary Duct Carcinoma

SC::

Secretory Carcinoma

IC::

Intraductal Carcinoma

CCC::

Clear Cell Carcinoma

EMC::

Epithelial-Myopeithelial Carcinoma

CCMC::

Clear Cell Myopeithelial Carcinoma

CA Ex-PA::

Carcinoma Ex Pleomorphic

CAMSG::

Cribriform Adenocarcinoma Of Minor Salivary Glands

BCAC::

Basal cell adenocarcinoma

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Acknowledgements

Sincere gratitude to Dr Aanchal Kakkar, Associate Professor, Pathology, All India Institute of Medical Sciences, New Delhi for FISH analysis

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  1. Kanwalpreet Kaur

    Present address: , 232, Chhoti Baradari, Part1, Jalandhar City, Punjab, India

Authors and Affiliations

  1. Department of Oncopathology, Gujarat Cancer and Research Institute, Ahmedabad, India

    Kanwalpreet Kaur, Shailee Mehta, Sangita Vanik & Priti Trivedi

  2. Consultant Histopathologist, Netaji Subash Chandra Bose Cancer Hospital, Kolkata, India

    Nirmalya Banerjee

  3. Consultant Head-Neck Surgeon, Netaji Subash Chandra Bose Cancer Hospital, Kolkata, India

    Harsh Dhar

  4. HBNI Fellowship in Head & Neck Surgery, Narayana Superspeciality Hospital, Howrah, India

    Sourav Datta

  5. Institute of Head & Neck Surgery, IPGMER, Kolkata, India

    Subhadeep Karanjai

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KK: conception and design of manuscript and research of literature and preparation of manuscript; SM: critical revision of manuscript for intellectual content; SV, NB: critical revision of manuscript for intellectual content; PT administrative support and supervision, HD, SD, SK: clinical input to the manuscript.

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Kaur, K., Mehta, S., Vanik, S. et al. The evolving role of molecular pathology in the diagnosis of salivary gland tumours with potential pitfalls. Eur Arch Otorhinolaryngol 279, 3769–3783 (2022). https://doi.org/10.1007/s00405-022-07326-6

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