Genetics

Cytogenetics

Several MECs have been reported to possess t(11:19) (q21;p13) translocation as the only abnormality (or with other structural and numerical alterations). This abnormality is also shared by acute leukaemia {655,1130,1904}.

Molecular genetics

Molecular studies of these tumours are few and limited in number of cases. They show infrequent genetic loss at chromosomes 9p21, 8q, 5p, 16q and 12p {351, 1228,2408}. Studies of the H-ras gene in these tumours have reported 18% mutations at codon 12 and/or 13 (one case) and no mutations at codon 61 {2858}. The mutations are mainly found in highgrade tumours {2859}. Recently molecular analysis of the t( 11:19) (q21;p12) resulted in the identification of a fusion transcript resulting from the binding of exon-1 of a novel gene of unknown function, the mucoepidermoid carcinoma translocated gene-1 (MECT1), at 19p13 region with exons 2-5 of a novel member of the mastermind-like gene family (MAML2) at 11q21 region. This transcript activate the notch target genes.

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