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.
Debiec-Rychter
Maria
M
Department of Human Genetics, Katholieke Universiteit Leuven, 3000, Leuven, Belgium. maria.debiec-rychter@med.kuleuven.ac.be
Hagemeijer
Anne
A
Sciot
Raf
R
D000293:Adolescent; D002610:Cheek; D002872:Chromosome Deletion; D020223:Chromosome Painting; D002883:Chromosomes, Human, Pair 14; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics / Q000648:ultrastructure; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics / Q000648:ultrastructure; D004171:Diploidy; D005153:Facial Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics*; D014178:Translocation, Genetic