Molecular advances in adenoid cystic carcinoma: Genetic and epigenetic insights

Abstract

Objective: This review aims to provide an overview of genetic and epigenetic alterations in adenoid cystic carcinoma, addressing challenges in prognosis, treatment, recurrence, and multidisciplinary management.

Design: A narrative review was conducted through searches in the PubMed, Scopus, Web of Science, EMBASE, LILACS and Google Scholar databases, using relevant keywords and including the verification of reference lists from journal articles through manual searching.

Results: The MYB-NFIB fusion emerged as a hallmark genetic feature of adenoid cystic carcinoma, influencing tumor behavior and resistance to apoptosis. Alterations in the PI3K/AKT and NOTCH pathways contributed to adenoid cystic carcinoma's aggressive traits, such as perineural invasion and metastasis. Epigenetic modifications, including DNA methylation and histone changes, were also linked to tumor progression and poor prognosis. Proteases such as MMP-9 and cathepsins D and B are associated with aggressive disease and prognosis. Although adenoid cystic carcinoma's rarity challenges clinical trials, these molecular markers remain valuable therapeutic targets.

Conclusion: The molecular complexity of adenoid cystic carcinoma underscores the need for targeted therapies that address its specific genetic and epigenetic landscape. Future research should prioritize clinical trials focusing on molecularly targeted treatments and epigenetic interventions' role in improving adenoid cystic carcinoma outcomes.

Keywords: Adenoid cystic carcinoma; Epigenetics; MYB-NFIB fusion; Molecular mechanisms; Proteases; Salivary gland.