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Mutational landscape of primary pulmonary salivary gland-type tumors through targeted next-generation sequencing

Lung Cancer Jul 30, 2021

Wang F, Xi SY, Hao WW, et al. - Researchers intended to profile the molecular changes of primary pulmonary salivary gland-type tumors (PSGTs) by using targeted next-generation sequencing. This analysis involved 32 patients;of those, 25 had mucoepidermoid carcinoma (MEC) and 7 had adenoid cystic carcinoma (ACC). Among MEC and ACC patients, presence of MAML2 and MYB rearrangements was found in 80.0% (20/25) and 71.4% (5/7) of patients, respectively. Total 10 (40.0%) of the MEC patients were found to have ≥ 1 mutation, and 6 of them exhibited 11 isolated mutations with abundance > 5%, namely NFE2L2, MYOD1, INPP4B, CCND2, SNTG1, HSPD1, TGFBR1, RBM10, NOTCH4, ASXL1, and PTPRD mutations. These observations explain that distinct driver features of MAML2 or MYB rearrangement are present in PSGTs, along with wide mutational diversity with a very low rate of somatic mutation. Improved survival in ACC could be achieved by targeting various crucial pathways, including the NOTCH and PI3K pathways, and chromatin remodeling.

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