Research Papers:
High number of chromosomal copy number aberrations inversely relates to t(11;19)(q21;p13) translocation status in mucoepidermoid carcinoma of the salivary glands
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Abstract
Johannes H. Matse1,2,3, Enno C.I. Veerman2, Jan G.M. Bolscher2, C. René Leemans4, Bauke Ylstra3 and Elisabeth Bloemena1,3
1Department of Oral and Maxillofacial Surgery and Oral Pathology VU University Medical Center, Academic Centre for Dentistry Amsterdam (ACTA) Amsterdam, The Netherlands
2Department of Oral Biochemistry ACTA, University of Amsterdam and VU University, Amsterdam, The Netherlands
3Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands
4Department of Otolaryngology, VU University Medical Center, Amsterdam, The Netherlands
Correspondence to:
Elisabeth Bloemena, email: [email protected]
Keywords: mucoepidermoid carcinoma, t(11;19)(q21;p13) translocation, chromosomal copy number aberrations, MEC
Received: September 30, 2016 Accepted: April 11, 2017 Published: April 20, 2017
ABSTRACT
Although rare, mucoepidermoid carcinoma (MEC) is one of the most common malignant salivary gland tumors. The presence of the t(11;19)(q21;p13) translocation in a subset of MECs has raised interest in genomic aberrations in MEC. In the present study we conducted genome-wide copy-number-aberration analysis by micro-array comparative-genomic-hybridization on 27 MEC samples.
Low/intermediate-grade MECs had significantly fewer copy-number-aberrations compared to high-grade MECs (low vs high: 3.48 vs 30; p = 0.0025; intermediate vs high: 5.7 vs 34.5; p = 0.036). The translocation-negative MECs contained more copy-number-aberrations than translocation-positive MECs (average amount of aberrations 15.9 vs 2.41; p =0.04).
Within all 27 MEC samples, 16p11.2 and several regions on 8q were the most frequently gained regions , while 1q23.3 was the most frequently detected loss.
Low/intermediate-grade MEC samples had copy-number-aberrations in chromosomes 1, 12 and 16, while high-grade MECs had a copy-number-aberration in 8p. The most commonly observed copy-number-aberration was the deletion of 3p14.1, which was observed in 4 of the translocation-negative MEC samples. No recurrent copy-number-aberrations were found in translocation-positive MEC samples.
Based on these results, we conclude that MECs may be classified as follows: (i) t(11;19)(q21;p13) translocation-positive tumors with no or few chromosomal aberrations and (ii) translocation-negative tumors with multiple chromosomal aberrations.
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