Detection of Alveolar Soft Part Sarcoma

10 Molecular Detection of Alveolar Soft Part Sarcoma 

An important and characteristic feature that distinct alveolar soft part sarcoma from other tumors are specific non-random cytogenetic abnormalities. The most common and specificgenetic abnormality associated with this tumorinvolvesthechromosomes X and 17 generating the t(X 17)(pll.2 q25) translocation. Other chromosomal abnormalities such as trisomy of the chromosomes 8 and 12 in addition to structural abnormalities in the chromosomes 1,8q and 16p are also reported in association with this tumor. 

Noteworthy is that the TEF3 gene is also involved in other specific genetic abnormalities associated with a portion of papillary renal cell carcinoma, namely both reciprocal translocations t(X l)(pll.2 q21.2) and t(X 17)(pll.2 q25), mainly described in pediatric renal cell carcinomas, which may indicate a genetic relationship between both tumor identities. 

As the t(X 17)(pll.2 q25) translocation was not detected in any other soft tissue tumor, the molecular detection of the specific fusion transcripts can be used as an additional diagnostic assay to confirm the diagnosis of alveolar soft part sarcoma, however we have to consider that similar genetic abnormalities may be associated primary and metastatic papillary renal cell carcinoma. 

Method The method used is mRNA extraction from frozen or paraffin-embedded tissue or FNA, followed by RT-PCR. 

---