Ewing's sarcoma and peripheral primitive neuroectodermal tumor of bone and soft tissue - A review

The histological diagnosis of Ewing's sarcoma (ES) continues to be a difficult task for pathologists. A number of new Es varieties has been described, leading to further complexity. Conventional Es, atypical Es, and peripheral neuroectodermal tumor (pPNET), including peripheral neuroepithelioma, belong generically to the same family of neoplasms, displaying common chromosomal rearrangements and analogous gene reorganizations. The main translocations are t(11;22) and t(21;22), with genes EWS, FLI-1 and ERG being involved, as well as other members of the ETS family of transcription factors. The prevalence of morphology should be maintained with the use of conventional histological techniques and supported with the analysis of the expression of CD99 Mic2 (HBA 71, 0.13) antigen, which is present in over 90% of cases, as well as with FLI-1 rearranged gene derived protein. Moreover, FISH and RT-PCR in paraffin-embedded tumor tissue may be of use in extremely difficult cases for differential diagnosis. Nevertheless, a number of mixed tumor types, such as primitive sarcoma or biphenotypic sarcoma, may show structural and genetic diversity, thus rendering their diagnosis even more complex.