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Comprehensive genomic profiling of salivary mucoepidermoid carcinomas reveals frequent BAP1, PIK3CA, and other actionable genomic alterations

Menée à partir de l'analyse de l'ADN de 48 carcinomes muco-épidermoïdes, cette étude identifie des altérations génomiques (BAP1, PIK3CA, ...) permettant de personnaliser les traitements

Background : We sought to identify genomic alterations (GAs) in salivary mucoepidermoid carcinomas. Patients and methods : DNA was extracted from 48 mucoepidermoid carcinomas. Comprehensive genomic profiling (CGP) including the calculation to tumor mutational burden (TMB) was performed on hybridization-captured adaptor ligation-based libraries of 315 cancer-related genes plus introns from 28 genes frequently rearranged for cancer and evaluated for all classes of GAs. Results : A total of 183 GAs were found in 80 unique genes. High grade tumors had more GAs (mean 5±3.8) compared to low (2.3±1.4) or intermediate (2.6±1.5) (P=0.019). TP53 GAs were seen in all tumor grades (41.7%) but were most common in high grade malignancies (56%)(P=0.047). CDKN2A GAs were seen in 41.6% of tumors. PI3K/mTOR pathway activation, including PI3KCA mutations, were more common in high grade (52%) than in low and intermediate grade tumors (4.3%) (P=0.007). BAP1 GAs were observed in 20.8% of tumors and BRCA1/2 GAs present in 10.5% of specimens. ERBB2 amplifications were seen in only 8.3% of tumors. The TMB for this patient group was relatively low with only 5 (10%) of cases having greater than 10 mutations/megabase of sequenced DNA. Conclusion : CGP of salivary mucoepidermoid carcinomas revealed diverse GAs that may lead to customized treatment options for patients with these rare tumors.

Annals of Oncology

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