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Review
. 2022 Aug;279(8):3769-3783.
doi: 10.1007/s00405-022-07326-6. Epub 2022 Mar 10.

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

Kanwalpreet Kaur  1   2 , Shailee Mehta  3 , Sangita Vanik  3 , Priti Trivedi  3 , Nirmalya Banerjee  4 , Harsh Dhar  5 , Sourav Datta  6 , Subhadeep Karanjai  7
Affiliations
Review

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

Kanwalpreet Kaur et al. Eur Arch Otorhinolaryngol. 2022 Aug.

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.

Keywords: Diagnostic and prognostic role; Mutational analysis; Salivary gland tumours.

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References

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