Current understanding of adenoid cystic carcinoma in the gene expression and targeted therapy

Adenoid Cystic Carcinoma (ACC) has been considered as a "quiet" tumor. It is typically malignancy arising from exocrine glands with poor long-term prognosis due to high rate of recurrence and distant metastasis. It is characterized by perineural infiltration, distant metastasis, and positive incision edge. Surgery is the first line treatment for ACC, followed by cytotoxic chemotherapy and/or radiotherapy as adjuvant treatments to avoid recurrence. But recurrence or metastasis still occurs in more than 50% ACC. Recurrent and/or metastasis (R/M) ACC is usually incurable, and no systemic agent has been found effective. With the widespread use of whole exome sequencing (WES) and whole genome sequencing (WGS), its internal oncogenic mechanism is gradually revealed, which involving molecular mutations such as the MYB family gene translocation, Notch signal pathway, DNA damage repair (DDR) pathway and epigenetic molecular mutations. The review helps us to understand the linkage among the pathways and targeted genes in diagnosis and related treatment of ACC till now.