t(11;19)(q21;p12~p13.11) and MECT1-MAML2 fusion transcript expression as a prognostic marker in infantile lung mucoepidermoid carcinoma
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Alexandre Serra1, Hans K Schackert, B Mohr
1Department of Pediatric Surgery, University of Dresden, D-01307 Dresden, Germany. alexandre.serra@uniklinikum-dresden.de
Background:
Primary pulmonary mucoepidermoid carcinomas (MECs) are the third most frequent pulmonary malignant neoplasm in children, and new molecular diagnostics may prove useful in determining the biologic course of such tumors.
Methods:
We analyzed the presence of a balanced t(11;19)(q21; p12~p13.11) and the MECT1-MAML2 fusion transcript in a 9-year-old girl with mucoepidermoid lung carcinoma using conventional cytogenetics, fluorescence in-situ hybridization, spectral karyotyping, high-resolution multicolor banding, and reverse transcriptase-polymerase chain reaction.
Results:
We confirmed the t(11;19)(q21; p12~p13.11) in the tumor. Molecular analysis of the translocation breakpoint confirmed the presence of the MECT1-MAML2 fusion transcript postulated to lead to an altered cyclic adenosine monophosphate signaling in MEC.
Conclusions:
Our data concur with previously reported cases, in which t(11;19) appears to be the primary chromosomal aberration for pulmonary MEC in children, and that the MECT1-MAML2 fusion transcript is associated with a better prognosis in MEC tumors.
