Literature DB >> 35267084

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

Kanwalpreet Kaur1,2, Shailee Mehta3, Sangita Vanik3, Priti Trivedi3, Nirmalya Banerjee4, Harsh Dhar5, Sourav Datta6, Subhadeep Karanjai7.   

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.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

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

Mesh:

Substances:

Year:  2022        PMID: 35267084     DOI: 10.1007/s00405-022-07326-6

Source DB:  PubMed          Journal:  Eur Arch Otorhinolaryngol        ISSN: 0937-4477            Impact factor:   2.503


  44 in total

1.  POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands.

Authors:  E Möller; G Stenman; N Mandahl; H Hamberg; L Mölne; J J van den Oord; O Brosjö; F Mertens; I Panagopoulos
Journal:  J Pathol       Date:  2008-05       Impact factor: 7.996

Review 2.  Molecular Pathology of Salivary Gland Neoplasms: Diagnostic, Prognostic, and Predictive Perspective.

Authors:  M Hasan Toper; Sulen Sarioglu
Journal:  Adv Anat Pathol       Date:  2021-03-01       Impact factor: 3.875

3.  Mucoepidermoid Carcinoma: A Comparison of Histologic Grading Systems and Relationship to MAML2 Rearrangement and Prognosis.

Authors:  Nicole A Cipriani; Jonathan J Lusardi; James McElherne; Alexander T Pearson; Andrea D Olivas; Carrie Fitzpatrick; Mark W Lingen; Elizabeth A Blair
Journal:  Am J Surg Pathol       Date:  2019-07       Impact factor: 6.394

4.  Genomic profiles and CRTC1-MAML2 fusion distinguish different subtypes of mucoepidermoid carcinoma.

Authors:  Kowan Ja Jee; Marta Persson; Kristiina Heikinheimo; Fabricio Passador-Santos; Katri Aro; Sakari Knuutila; Edward W Odell; Antti Mäkitie; Kaarina Sundelin; Göran Stenman; Ilmo Leivo
Journal:  Mod Pathol       Date:  2012-09-28       Impact factor: 7.842

5.  CRTC1/MAML2 fusion transcript in high grade mucoepidermoid carcinomas of salivary and thyroid glands and Warthin's tumors: implications for histogenesis and biologic behavior.

Authors:  Yamilet Tirado; Michelle D Williams; Ehab Y Hanna; Frederic J Kaye; John G Batsakis; Adel K El-Naggar
Journal:  Genes Chromosomes Cancer       Date:  2007-07       Impact factor: 5.006

6.  t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway.

Authors:  Giovanni Tonon; Sanjay Modi; Lizi Wu; Akihito Kubo; Amy B Coxon; Takefumi Komiya; Kevin O'Neil; Kristen Stover; Adel El-Naggar; James D Griffin; Ilan R Kirsch; Frederic J Kaye
Journal:  Nat Genet       Date:  2003-01-21       Impact factor: 38.330

7.  Reevaluation of Salivary Lymphadenoma: A Subgroup Identified as Warthin-like Mucoepidermoid Carcinoma Following Molecular Investigation for MAML2 Rearrangement.

Authors:  Chunye Zhang; Ting Gu; Yuhua Hu; Jingjing Sun; Ronghui Xia; Zhen Tian; Lizhen Wang; Jiang Li
Journal:  Arch Pathol Lab Med       Date:  2021-06-01       Impact factor: 5.534

8.  Warthin-like Mucoepidermoid Carcinoma: A Combined Study of Fluorescence In Situ Hybridization and Whole-slide Imaging.

Authors:  Kenichiro Ishibashi; Yohei Ito; Ayako Masaki; Kana Fujii; Shintaro Beppu; Takeo Sakakibara; Hisashi Takino; Hiroshi Takase; Kei Ijichi; Kazuo Shimozato; Hiroshi Inagaki
Journal:  Am J Surg Pathol       Date:  2015-11       Impact factor: 6.394

9.  Aberrantly activated AREG-EGFR signaling is required for the growth and survival of CRTC1-MAML2 fusion-positive mucoepidermoid carcinoma cells.

Authors:  Z Chen; J Chen; Y Gu; C Hu; J-L Li; S Lin; H Shen; C Cao; R Gao; J Li; P K Ha; F J Kaye; J D Griffin; L Wu
Journal:  Oncogene       Date:  2013-08-26       Impact factor: 9.867

10.  SalvGlandDx - a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets.

Authors:  Sandra N Freiberger; Muriel Brada; Christine Fritz; Sylvia Höller; Alexander Vogetseder; Milo Horcic; Michel Bihl; Michal Michal; Martin Lanzer; Martin Wartenberg; Urs Borner; Peter K Bode; Martina A Broglie; Tamara Rordorf; Grégoire B Morand; Niels J Rupp
Journal:  Neoplasia       Date:  2021-04-18       Impact factor: 5.715

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