Salivary Gland Cancer in the Era of Routine Next-Generation Sequencing

Todorovic, Emilija; Dickson, Brendan C.; Weinreb, Ilan

doi:10.1007/s12105-020-01140-4

Cited by 35 publications

(37 citation statements)

References 29 publications

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“…Overall, this fusion corroborates the diagnosis of adenoid-cystic carcinoma although the morphology was largely unusual. The molecular finding is in line with a recently published similar case, however obscuring its origin by illustrating squamous differentiation [61] .…”

Section: Discussionsupporting

confidence: 90%

“…We envision the SalvGlandDx panel as a useful all-in-one tool to diagnose and classify salivary gland neoplasms. With this panel, we can corroborate the findings from Todorovic et al , who showed the importance of next generation sequencing in salivary gland neoplasms from different aspects [61] . The great advantage is thereby the simultaneous capturing of aberrant expression, gene mutations and fusions with the only need of RNA extraction, also reliably working on FFPE cell block specimen.…”

Section: Discussionsupporting

confidence: 89%

“…Case 1 showed an intriguing oncocytic mucoepidermoid carcinoma (OMEC), lacking the typical mucocytes and triphasic differentiation as recently described by Skalova et al [60] and one similar case by Todorovic et al [61] . The CRTC3-MAML2 fusion is highly specific to mucoepidermoid carcinoma [18] , whereas the detection on the cellblock specimen combined with the oncocytic morphology was sufficient for this diagnosis.…”

Section: Discussionmentioning

confidence: 57%

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

et al. 2021

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Highlights SalvGlandDx includes 27 genes known to be involved in salivary gland neoplasms Can be applied to FFPE histological and cytological (cell block) specimen Solely RNA extraction is needed Gene fusions, hotspot mutations and gene expression levels can be detected Guides diagnosis in uncertain cases and can detect therapeutically relevant fusions

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 57%

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

et al. 2021

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“…These variants are more problematic to diagnose since they mimic other SGN, such as acinic cell carcinoma (AciCC) [52]. Although NGS has improved diagnostic accuracy, the MAML2, FISH, may sometimes exhibit negative results, notably in the oncocytic variants of MEC [61]. Case studies have shown that whenever FISH has failed to express fusion, NGS has validated its potential as a confirmatory test [61].…”

Section: Mucoepidermoid Carcinomamentioning

confidence: 99%

An Overview on the Histogenesis and Morphogenesis of Salivary Gland Neoplasms and Evolving Diagnostic Approaches

Iyer

Hariharan

Cao

et al. 2021

Cancers

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Salivary gland neoplasms (SGN) remain a diagnostic dilemma due to their heterogenic complex behavior. Their diverse histomorphological appearance is attributed to the underlying cellular mechanisms and differentiation into various histopathological subtypes with overlapping features. Diagnostic tools such as fine needle aspiration biopsy, computerized tomography, magnetic resonance imaging, and positron emission tomography help evaluate the structure and assess the staging of SGN. Advances in molecular pathology have uncovered genetic patterns and oncogenes by immunohistochemistry, fluorescent in situ hybridization, and next–generation sequencing, that may potentially contribute to innovating diagnostic approaches in identifying various SGN. Surgical resection is the principal treatment for most SGN. Other modalities such as radiotherapy, chemotherapy, targeted therapy (agents like tyrosine kinase inhibitors, monoclonal antibodies, and proteasome inhibitors), and potential hormone therapy may be applied, depending on the clinical behaviors, histopathologic grading, tumor stage and location, and the extent of tissue invasion. This review delves into the molecular pathways of salivary gland tumorigenesis, highlighting recent diagnostic protocols that may facilitate the identification and management of SGN.

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“…Chromosomal rearrangements and gene fusions are particularly common in salivary gland tumors, and are important elements in the identification of specific cancer subtypes. At the side of traditional diagnostic tools, such as IHC and FISH detection, the next-generation sequencing (NGS) approach has been successfully applied in the recent years to extend and refine our knowledge on salivary gland tumors [ 139 ]. NGS approaches have been used for whole exome, transcriptome, or specific-target sequencing, to generate a precise barcoding of neoplastic samples.…”

Section: Novel Approaches For Modelling Diagnose and Therapymentioning

confidence: 99%

Molecular and Cellular Modelling of Salivary Gland Tumors Open New Landscapes in Diagnosis and Treatment

Porcheri

Meisel

Mitsiadis

2020

Cancers

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Salivary gland tumors are neoplasms affecting the major and minor salivary glands of the oral cavity. Their complex pathological appearance and overlapping morphological features between subtypes, pose major challenges in the identification, classification, and staging of the tumor. Recently developed techniques of three-dimensional culture and organotypic modelling provide useful platforms for the clinical and biological characterization of these malignancies. Additionally, new advances in genetic and molecular screenings allow precise diagnosis and monitoring of tumor progression. Finally, novel therapeutic tools with increased efficiency and accuracy are emerging. In this review, we summarize the most common salivary gland neoplasms and provide an overview of the state-of-the-art tools to model, diagnose, and treat salivary gland tumors.

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Salivary Gland Cancer in the Era of Routine Next-Generation Sequencing

Cited by 35 publications

References 29 publications

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

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

An Overview on the Histogenesis and Morphogenesis of Salivary Gland Neoplasms and Evolving Diagnostic Approaches

Molecular and Cellular Modelling of Salivary Gland Tumors Open New Landscapes in Diagnosis and Treatment

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