BACKGROUND: We present the results of a cytogenetic and molecular cytogenetic analysis of a series of patients with bone and soft tissue tumors. PATIENTS ANDMETHODS: We analyzed a cohort of 26 patients with Ewing sarcoma/PNET, 15 patients with rhabdomyosarcoma, 5 with synovial sarcoma and one patient with an undifferentiated sarcoma using the cytogenetic and molecular cytogenetic techniques M-FISH and arrayCGH. RESULTS: We found nonrandom chromosomal structural and numerical changes with diagnostic and prognostic relevance in most patients. Eight patients with ES/PNET had only a t(11;22)(q24;q12), eight patients had secondary aberrations as well and six had only secondary aberrations. In the RMS patients we detected the t(1;13)(p36;q14) once and the t(2;13)(q35;q14) four times, both of them characteristic for the alveolar subtype with poor prognosis and numerical aberrations, characteristic for the embryonal subtype, in five patients. Four patients with synovial sarcoma had the diagnostic t(X;18)(p11.2;q11.2), one of them had a complex karyotype with a complex t(X;18;21) (p11.2;q11.2;q11.2) together with t(2;5)(q24-32;p13-14) and t(12;20)(p11;q13). We correlated the karyotype of cancer cells with histopathologic morphologic analysis, clinical outcome and foreign published results. CONCLUSION: Cytogenetic and molecular cytogenetic analysis is a valuable diagnostic tool in bone and soft tissue tumors, especially in less differentiated subtypes, and as such it should be an integral part of curative care.

Klinika detské hematologie a onkologie 2 LF UK a FN Motol Praha