1/4. Embryonal rhabdomyosarcoma with only numerical chromosome changes. Case report and review of the literature.An embryonal rhabdomyosarcoma, presenting as a retroperitoneal mass in a 15-year-old girl, is reported. The histological and immunohistochemical picture was typical, except for the presence of focal chondroid differentiation. Interestingly, expression of the "muscle markers" desmin and alpha-sarcomeric actin was present in the latter areas. cytogenetic analysis showed a hyperdiploid karyotype without structural chromosome changes. The pertinent literature on the subject is reviewed. Hyperdiploidy of the clonal type seems to occur frequently, but no characteristic karyotype is so far emerging.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/4. Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement.The cytogenetic analysis of a spindle-cell variant of embryonal rhabdomyosarcoma (RMS), presenting as a cheek mass in an 18-year-old girl, is reported. The tumor cells showed an abnormal karyotype 46,XX,der(2)t(2;7)(q36 approximately q37;q3?),del(14)(q24),der(16)t(1;16)(q21;q13), with a tetraploid range of chromosome number in a subpopulation of cells. By fluorescence in situ hybridization analysis, the tumor cells were negative for FKHR-disrupting translocations specific for alveolar type of RMS and for NMYC gene amplification.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
3/4. adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma.Rhabdomyosarcomas are classified into three well-defined categories: embryonal, alveolar and pleomorphic rhabdomyosarcoma. Recently, seven cases of an unusual adult type of rhabdomyosarcoma with a prominent hyaline sclerosis have been described. We report the hitherto unreported cytogenetic changes of an adult sclerosing rhabdomyosarcoma. A 79-year-old woman underwent an amputation for a rapidly growing soft tissue mass in the anterior compartment of the right lower leg. The tumor infiltrated the tibia. On histology, a fascicular spindle to round cell proliferation, embedded in a prominent hyaline matrix, was seen. immunohistochemistry showed focal desmin, myogenin and MyOD1 expression, and electron microscopy revealed Z-band material. cytogenetic analysis disclosed a 44-49,XX, del(1)(p22)[2], 11, 16[5], 18[12], 21[3],-22 [cp13] karyotype. Using fluorescent in situ hybridization (FISH) analysis, the tumor cells were negative for FOXO1A-disrupting translocations specific for alveolar rhabdomyosarcoma. The chromosomal composition of malignant cells resembled the pattern of numerical changes frequently observed in embryonal rhabdomyosarcoma, suggesting a close relationship of an adult sclerosing rhabdomyosarcoma with this entity.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
4/4. Embryonal rhabdomyosarcoma with 92,XXYY, dmin and evidence of spontaneous cell fusion.The results of a cytogenetic analysis in an embryonal rhabdomyosarcoma are presented. A tetraploid karyotype with double minute chromosomes (dmin) was identified using a direct method of tumor tissue treatment. In 5% of the examined cells, evidence of spontaneous cell fusion was observed.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |