Molekularpathologie seltener Sarkomentitäten des Urogenitaltraktes

Molecularpathology of rare sarcomas of the genito-urinary tract

by Alina Volland
Doctoral thesis
Date of Examination:2013-11-20
Date of issue:2013-11-07
Advisor:PD Dr. Paul Thelen
Referee:PD Dr. Paul Thelen
Referee:Prof. Dr. Philipp Ströbel
Persistent Address: http://dx.doi.org/10.53846/goediss-4130

 

 

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Abstract

English

Soft tissue sarcomas of the genito-urinary tract are really rare and aggressive tumors with rapid tumor progression and early metastatic disease.  Despite the histological similarity of these small-, round- and blue cell tumors, like the Ewing sarcoma family of tumors and rhabdomyosarcomas, there are lots of differences in therapeutic response and prognosis. This shows the importance of a reliable objective molecular marker for quick and exact classification and diagnosing of these tumors.Twenty paraffin-embedded, formalin-fixated tumor tissues and one fresh frozen tumor sample of the entities of the Ewing sarcoma family of tumors and embryonal rhabdomyosarcoma were analysed via qRT-PCR for the expression of the specific fusiontranscripts EWS/FLI1 type 1 and 2, EWS/ERG, PAX3 and PAX7/FKHR. There was a specific expression of the analyzed fusiontranscripts with one positive paraffin-embedded, formalin-fixated tumor tissue sample for the Ewing sarcoma family of tumors-specific translocation EWS/FLI1 type 2 and a positive expression of the same fusiontranscript in the fresh frozen tumor sample.Because of the very poor RNA quality it was necessary to produce a positive standard for one of the fusiontranscripts EWS/FLI1 type 2. All paraffin-embedded, formalin-fixated samples showed a highly degraded RNA with a RIN of 1,0 till 2,5. This shows that molecular analyzes are possible in paraffin-embedded, formalin-fixated tumor tissues, but nevertheless often they are limited to the poor RNA quality.Alternatives in tissue fixation and storage may help to achieve a better RNA quality for molecular analyzes of these fusiontranscripts, so that they can become a standard examination in the clinical daily life for exact and quick diagnosing of these rare and aggressive tumors.
Keywords: soft tissue sarcomas; Ewing sarcoma family of tumors; rhabdomyosarcoma; EWS/FLI1; RNA quality
Schlagwörter: Weichteilsarkom; Ewing Tumor; Rhabdomyosarkom; EWS/FLI1; RNA Qualität
 
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