[Tumor-type specific translocations methods and indications for routine molecular pathology]

Chromosomal abnormalities like translocations and their corresponding gene fusions were first suggested to be causal factors in the development of cancer by Boveri in 1914. At present more than 350 gene fusions involving 337 different genes have been identified and in particular in malignant hematological diseases and sarcomas an increasing number of chromosomal aberrations are being recognized as important diagnostic and prognostic parameters. By contrast this type of gene rearrangement has been until recently only rarely described in the common carcinomas. However, with new powerful techniques, that enable the detection of cytogenetically cryptic rearrangement, this number is likely to increase substantially and carcinomas characterized by fusions oncogenes indicate that the pathogenetic mechaisms involved in epithelial carcinogenesis may be similar to those known to operate in hematological and soft-tissue malignancies.