Genetika 2014 Volume 46, Issue 2, Pages: 601-610
https://doi.org/10.2298/GENSR1402601D
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Incidence and clinical relevance of T(11;19) translocation in salivary gland mucoepidermoid carcinoma
Ilić-Dimitrijević Ivana (School of Dental Medicine, Clinic of Maxillofacial Surgery, Belgrade)
Löning Thomas (Institute of Haematopathology Hamburg, Hamburg, Germany)
Falk Marcus (Institute of Haematopathology Hamburg, Hamburg, Germany)
Konstantinović Vitomir S. 
(School of Dental Medicine, Clinic of Maxillofacial Surgery, Belgrade)
Vukadinović Miroslav (School of Dental Medicine, Clinic of Maxillofacial Surgery, Belgrade)
Tepavčević Zvezdana (School of Dental Medicine, Department of Pathology, Belgrade)
Tabaković Saša (Medical Faculty, Department of Dental Medicine, Kosovska Mitrovica)
Pejčić Nataša (School of Dental Medicine, Clinic of Maxillofacial Surgery, Belgrade)
Miličić Biljana (School of Dental Medicine, Department of Human Genetics, Belgrade)
Milašin Jelena (School of Dental Medicine, Department of Human Genetics, Belgrade)
Mucoepidermoid carcinoma (MEC) harbors a recurring t(11;19) translocation
with an associated novel fusion oncogene-MECT1-MAML2. The CRTC1-MAML2oncogene
disrupts normal cell-cycle and differentiation, contributing to tumor
development. The objectives of this study were to establish the incidence of
CRTC1-MAML2 fusion in Serbian patients and estimate its relevance as a
genetic marker of MEC behavior. In this retrospective study, 20 cases of MEC
of salivary glands were tested for the presence of CRTC1-MAML2 fusion using
reverse transcriptase-polymerase chain reaction. Clinicopathological
parameters and survival data were examined in relation to fusion status. The
CRTC1-MAML2 fusion was detected in 40% of MECs and its presence was
associated exclusively with low-intermediate grade tumor histology (P = 0.02)
and favorable clinical outcome, with 100 % overall survival rate (P=0.046).
The study has shown that the presence of the CRTC1-MAML2 fusion can serve as
an additional diagnostic and prognostic marker for mucoepidermoid carcinomas.
Keywords: Salivary gland, Mucoepidermoid carcinoma, Chromosomal translocation (11,19), MECT1-MAML2, RT-PCR diagnostic