[Significance of molecular-cytogenetic findings in mucoepidermoid carcinoma as an example of salivary gland tumors]

Pathologe. 2005 Sep;26(5):359-66. doi: 10.1007/s00292-005-0778-x.
[Article in German]

Abstract

Chromosome translocations in tumors frequently give rise to fusion genes encoding proteins with oncogenic activities. Mucoepidermoid carcinomas (MEC) are characterized by a t(11;19)(q21-22;p13) translocation found in approximately 60% of the tumors. This t(11;19) translocation results in a fusion gene consisting of exon 1 of the MECT 1 gene and exons 2-5 of the MAML 2 gene. As a result of the t(11;19) a fusion protein is generated which, independent of NOTCH-ligands, activates the transcription of the NOTCH target gene HES 1. The altered function of MAML 2 causes a disruption of NOTCH signalling which suggests a novel mechanism of tumorigenesis. Pending the elucidation of the t(11;19) at the molecular level of an apparently identical chromosomal translocation in Warthin's tumor, the identification of the translocation in MEC by FISH- and/or RT-PCR-analyses may become important in diagnosis and might have prognostic relevance. Warthin's tumors are benign salivary gland neoplasms with a distinctive histomorphology and histogenesis completely different from MEC.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carcinoma, Mucoepidermoid / classification
  • Carcinoma, Mucoepidermoid / genetics*
  • Carcinoma, Mucoepidermoid / pathology*
  • Chromosome Aberrations*
  • Exons
  • Humans
  • Oncogene Proteins, Fusion / analysis
  • Oncogene Proteins, Fusion / genetics
  • Polymerase Chain Reaction
  • Salivary Gland Neoplasms / genetics*
  • Salivary Gland Neoplasms / pathology
  • Translocation, Genetic*

Substances

  • MECT1-MAML2 fusion protein, human
  • Oncogene Proteins, Fusion