Adenoid Cystic Carcinoma with High-grade Transformation in Head and Neck: An Exploration of Its Molecular Genetic Alterations Based on Next-generation Sequencing

doi:10.13701/j.cnki.kqyxyj.2024.02.013

Abstract

Abstract: Objective: To identify the genetic alterations of ACC-HGT in the head and neck. Methods: Clinical and pathological information were gathered from five patients with ACC-HGT who were diagnosed in the Department of Oral Pathology at the Shanghai Ninth People's Hospital during the period from January 2020 to December 2022. The high-grade transformed components microdissected from the 5 cases were detected by next generation sequencing. The effect of gene mutations on protein expression was further verified by immunohistochemistry. Results: These patients were all male, whose average age was 48 years. During the period after surgery ranging from 4 to 30 months, the outcomes of 5 patients was tracked. Of these, 3 survived while 2 deceased. Three patients experienced local recurrence, with 2 also developing distant metastases to lungs and brain. Of the 5 tumors, NOTCH1 mutations were detected in 3 cases and another one case harbored NOTCH1 rearrangement. p53 mutation was detected in 1 case. PIK3CA mutation was detected in 2 cases. PIK3R1 mutation was detected in 1 case. PPP2R2A mutation was detected in 1 case. These gene mutations could cause the overexpression of downstream related proteins NICD, p53 and pAKTSer473. Conclusion: Adenoid cystic carcinoma with high-grade transformation has a poor prognosis, and are enriched for alterations in the key NOTCH, PI3K and P53 signaling pathways.

Key words: adenoid cystic carcinoma, high-grade transformation, microdissected, NOTCH1, p53, PI3K

LIU Shengnan, GU Ting, ZHANG Ying, QIAN Jiajun, XUE Junqing, WANG Yu. Adenoid Cystic Carcinoma with High-grade Transformation in Head and Neck: An Exploration of Its Molecular Genetic Alterations Based on Next-generation Sequencing[J]. Journal of Oral Science Research, 2024, 40(2): 161-165.

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