Bibliographic Details
| Title: |
Molecular Analysis of Salivary and Lacrimal Adenoid Cystic Carcinoma. |
| Authors: |
Powell, Sarah1 (AUTHOR) powellsk@tcd.ie, Kulakova, Karina2,3 (AUTHOR) karina.kulakova4@mail.dcu.ie, Hanratty, Katie1,2,3 (AUTHOR) susan.kennedy@rveeh.ie, Khan, Rizwana1 (AUTHOR), Casserly, Paula1 (AUTHOR), Crown, John4 (AUTHOR), Walsh, Naomi3 (AUTHOR), Kennedy, Susan2,4 (AUTHOR) |
| Source: |
Cancers. Aug2024, Vol. 16 Issue 16, p2868. 15p. |
| Subject Terms: |
*COMPUTER-assisted molecular modeling, *RESEARCH funding, *GENOME-wide association studies, *HEAD & neck cancer, *OCULAR tumors, *SALIVARY gland tumors, *CYTOCHEMISTRY, *ADENOID cystic carcinoma, *BIOINFORMATICS, *KAPLAN-Meier estimator, *LOG-rank test, *ELECTRONIC health records, *DNA repair, *SURVIVAL analysis (Biometry), *SEQUENCE analysis |
| Abstract: |
Simple Summary: Adenoid cystic carcinoma is a rare but devastating disease. Currently, treatment options are very poor, and ACC does not respond well to conventional chemotherapy or radiation therapy and has a high rate of recurrence or metastasis. The molecular drivers that govern disease pathology are currently poorly understood. We conducted a molecular analysis of adenoid cystic carcinoma of the salivary and lacrimal glands in order to better understand these mechanisms and pave the way for the development of future therapeutics. Adenoid cystic carcinoma (ACC) of head and neck origin is associated with slow but relentless progression and systemic metastasis, resulting in poor long-term survival rates. ACC does not respond to conventional chemotherapy. Determination of molecular drivers may provide a rational basis for personalized therapy. Herein, we investigate the clinical and detailed molecular genomic features of a cohort of patients treated in Ireland and correlate the site of origin, molecular features, and outcomes. Clinical and genomic landscapes of all patients diagnosed with ACC over a twenty-year period (2002–2022) in a single unit in Ireland were examined and analyzed using fluorescence in situ hybridization, DNA sequencing, and bioinformatic analysis. Fourteen patients were included for analysis. Eleven patients had primary salivary gland ACC and three primary lacrimal gland ACC; 76.9% of the analyzed tumors displayed evidence of NFIB-MYB rearrangement at the 6q23.3 locus; 35% had mutations in NOTCH pathway genes; 7% of patients had a NOTCH1 mutation, 14.3% NOTCH2 mutation, and 14.3% NOTCH3 mutation. The presence of epigenetic modifications in ACC patients significantly correlated with worse overall survival. Our study identifies genetic mutations and signaling pathways that drive ACC pathogenesis, representing potential molecular and therapeutic targets. [ABSTRACT FROM AUTHOR] |
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