Bedeutung molekular-zytogenetischer Befunde bei Speicheldrüsentumoren am Beispiel des Mukoepidermoidkarzinoms
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Bedeutung molekular-zytogenetischer Befunde bei Speicheldrüsentumoren am Beispiel des Mukoepidermoidkarzinoms. / Röser, K; Jäkel, K T; Bullerdiek, J; Löning, T.
In: PATHOLOGE, Vol. 26, No. 5, 09.2005, p. 359-66.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Bedeutung molekular-zytogenetischer Befunde bei Speicheldrüsentumoren am Beispiel des Mukoepidermoidkarzinoms
AU - Röser, K
AU - Jäkel, K T
AU - Bullerdiek, J
AU - Löning, T
PY - 2005/9
Y1 - 2005/9
N2 - 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.
AB - 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.
KW - Carcinoma, Mucoepidermoid
KW - Chromosome Aberrations
KW - Exons
KW - Humans
KW - Oncogene Proteins, Fusion
KW - Polymerase Chain Reaction
KW - Salivary Gland Neoplasms
KW - Translocation, Genetic
KW - English Abstract
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
KW - Review
U2 - 10.1007/s00292-005-0778-x
DO - 10.1007/s00292-005-0778-x
M3 - SCORING: Zeitschriftenaufsatz
C2 - 16075259
VL - 26
SP - 359
EP - 366
JO - PATHOLOGE
JF - PATHOLOGE
SN - 0172-8113
IS - 5
ER -