Mutational Signatures in Salivary Gland Carcinomas

Chrysovergis, Aristeidis; Papanikolaou, Vasileios; Spyropoulou, Despoina; Roukas, Dimitrios; Asimakopoulos, Asimakis; Papanastasiou, George; Mastronikoli, Sofianiki; Falidas, Evangelos; PAPOULIAKOS, SOTIRIOS; Tsiambas, Evangelos; Pantos, Pavlos; Ragos, Vasileios; Peschos, Dimitrios; Mastronikolis, Nicholas; Kyrodimos, Efthymios

doi:10.21873/cdp.10233

Cited by 2 publications

(1 citation statement)

References 35 publications

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“…Concerning another gene, AR, there is limited, but strong evidence that its protein overexpression in rare cases of SDCs is a result of its gene amplification (37). Finally, actinin 4 (ACTN4) gene has been found to be overexpressed due to amplification in solid malignancies of different histotypes including SGCs (38). In contrast to HER2 and EWSR1 genes, MDM2 and CDK4 oncogenes, which share the chromosomal region 12q13-15, demonstrate a low amplification rate in SDCs.…”

Section: Gene Amplified Sgc Type Her2 Alk Mdm2 Myc Ar Pd-l1 Egfr Neur...mentioning

confidence: 99%

Impact of Amplified Oncogenes on Salivary Gland Carcinomas

PAPANIKOLAOU,

CHRYSOVERGIS,

ASIMAKOPOULOS

et al. 2023

CDP

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In normal epithelia, proto-oncogenes regulate critical intra- or intercellular functions, including cell growth and proliferation, apoptosis, and signaling transduction from the cell periphery (extracellular space) to the nucleus mediated by different pathways. Oncogenes are the mutated or amplified forms of the corresponding proto-oncogenes that are crucially involved in cell neoplastic and malignant transformation during carcinogenesis. Salivary gland carcinomas (SGCs) demonstrate a variety of histogenetic types. They are characterized by a broad spectrum of chromosomal and gene alterations. In particular, amplifications in specific genes [human epidermal growth factor receptor 2 (HER2), human epidermal growth factor receptor 4 (HER4), epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), Mouse double minute 2 homolog (MDM2), androgen receptor (AR), programmed death (ligand 1 (PD-L1), neurogenic differentiation factor 2 (NEUROD2), phosphatidylinositol 3,4,5-trisphosphate-dependent RAC exchanger 1 protein (PREX1), cyclin-dependent kinase4/6 (CDK4/6), proline-rich acidic protein 1 (PRAP1), kell antigen system (KEL), glutamate receptor subunit epsilon 2 (GRIN2D), Ewing sarcoma RNA-binding protein 1 (EWSR1), MYC proto-oncogene (MYC)] combined or not with chromosomal numerical imbalances (aneuploidy/ polysomy/monosomy) form different genetic signatures affecting the response to monoclonal antibody-based, oncologicaly targeted regimens. Different SGC histotypes demonstrate specific combinations of mutated/amplified genes that modify their clinicohistological features. In the current molecular review, we present the most important amplified oncogenes and their impact on the biological behavior of SGCS.

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Section: Gene Amplified Sgc Type Her2 Alk Mdm2 Myc Ar Pd-l1 Egfr Neur...mentioning

confidence: 99%

Impact of Amplified Oncogenes on Salivary Gland Carcinomas

PAPANIKOLAOU,

CHRYSOVERGIS,

ASIMAKOPOULOS

et al. 2023

CDP

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Current diagnosis and treatment of salivary gland-type tumors of the lung

Horio,

Kuroda,

Masago

et al. 2023

Japanese Journal of Clinical Oncology

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Salivary gland-type tumors of the lung are thought to originate from the submucosal exocrine glands of the large airways. Due to their rare occurrence, reports of their study are limited to small-scale or case reports. Therefore, daily clinical practices often require a search for previous reports. In the last 20 years, several genetic rearrangements have been identified, such as MYB::NF1B rearrangements in adenoid cystic carcinoma, CRTC1::MAML2 rearrangements in mucoepidermoid carcinoma, EWSR1::ATF1 rearrangements in hyalinizing clear cell carcinoma and rearrangements of the EWSR1 locus or FUS (TLS) locus in myoepithelioma and myoepithelial carcinoma. These molecular alterations have been useful in diagnosing these tumors, although they have not yet been linked to molecularly targeted therapies. The morphologic, immunophenotypic, and molecular characteristics of these tumors are similar to those of their counterparts of extrapulmonary origin, so clinical and radiologic differential diagnosis is required to distinguish between primary and metastatic disease of other primary sites. However, these molecular alterations can be useful in differentiating them from other primary lung cancer histologic types. The management of these tumors requires broad knowledge of the latest diagnostics, surgery, radiotherapy, bronchoscopic interventions, chemotherapy, immunotherapy as well as therapeutic agents in development, including molecularly targeted agents. This review provides a comprehensive overview of the current diagnosis and treatment of pulmonary salivary gland tumors, with a focus on adenoid cystic carcinoma and mucoepidermoid carcinoma, which are the two most common subtypes.

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Mutational Signatures in Salivary Gland Carcinomas

Cited by 2 publications

References 35 publications

Impact of Amplified Oncogenes on Salivary Gland Carcinomas

Impact of Amplified Oncogenes on Salivary Gland Carcinomas

Current diagnosis and treatment of salivary gland-type tumors of the lung

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