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. 2017 Jan 1;23(1):283-288.
doi: 10.1158/1078-0432.CCR-16-0720. Epub 2016 Jun 23.

Whole-Exome Sequencing of Salivary Gland Mucoepidermoid Carcinoma

Hyunseok Kang  1 , Marietta Tan  2 , Justin A Bishop  3 , Siân Jones  4 , Mark Sausen  4 , Patrick K Ha  2 , Nishant Agrawal  5   6
Affiliations

Whole-Exome Sequencing of Salivary Gland Mucoepidermoid Carcinoma

Hyunseok Kang et al. Clin Cancer Res. .

Abstract

Purpose: Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy. To explore the genetic origins of MEC, we performed systematic genomic analyses of these tumors.

Experimental design: Whole-exome sequencing and gene copy-number analyses were performed for 18 primary cancers with matched normal tissue. FISH was used to determine the presence or absence of the MECT1-MAML2 translocation in 17 tumors.

Results: TP53 was the most commonly mutated gene in MEC (28%), and mutations were found only in intermediate- and high-grade tumors. Tumors with TP53 mutations had more mutations overall than tumors without TP53 mutations (P = 0.006). POU6F2 was the second most frequently mutated gene, found in three low-grade MECs with the same in-frame deletion. Somatic alterations in IRAK1, MAP3K9, ITGAL, ERBB4, OTOGL, KMT2C, and OBSCN were identified in at least two of the 18 tumors sequenced. FISH analysis confirmed the presence of the MECT1-MAML2 translocation in 15 of 17 tumors (88%).

Conclusions: Through these integrated genomic analyses, MECT1-MAML2 translocation and somatic TP53 and POU6F2 mutations appear to be the main drivers of MEC. Clin Cancer Res; 23(1); 283-8. ©2016 AACR.

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Conflict of interest statement

The authors declare no potential conflicts of interest.

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References

    1. Boukheris H, Curtis RE, Land CE, Dores GM. Incidence of carcinoma of the major salivary glands according to the WHO classification, 1992 to 2006: a population-based study in the United States. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2009;18:2899–2906. - PMC - PubMed
    1. Ettl T, Schwarz-Furlan S, Gosau M, Reichert TE. Salivary gland carcinomas. Oral and maxillofacial surgery. 2012;16:267–283. - PubMed
    1. Luna MA. Salivary mucoepidermoid carcinoma: revisited. Advances in anatomic pathology. 2006;13:293–307. - PubMed
    1. Seethala RR. Histologic grading and prognostic biomarkers in salivary gland carcinomas. Advances in anatomic pathology. 2011;18:29–45. - PubMed
    1. El-Naggar AK, Lovell M, Killary AM, Clayman GL, Batsakis JG. A mucoepidermoid carcinoma of minor salivary gland with t(11;19)(q21;p13.1) as the only karyotypic abnormality. Cancer genetics and cytogenetics. 1996;87:29–33. - PubMed

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