[Profile of chromosomal imbalances in 10 cases of primary alveolar rhabdomyosarcoma analyzed by comparative genomic hybridization].
OBJECTIVE
The aim of this study was to characterize the profile of chromosomal imbalances of alveolar rhabdomyosarcoma (ARMS).


METHODS
One-step RT-PCR was used to detect the expression of PAX3-FKHR and PAX7-FKHR fusion transcripts in 10 cases of alveolar rhabdomyosarcoma and in an ARMS cell line. Comparative genomic hybridization (CGH) was used to investigate the genomic imbalances in these cases. It was analyzed according to the histological type, pathologic grading, clinical staging, gender and age, respectively.


RESULTS
The 10 patients with alveolar rhabdomyosarcoma showed evidence of increased or decreased DNA sequence copy numbers involving one or more regions of the genome. (1) The frequently gained chromosome arms of ARMS were 12q, 2p, 6p, 6q, 10q, 2q, 4q, 15q, 1p, 9q, 14q and 18q (> or = 30.0%), and the frequently lost chromosome arms of ARMS were 3p, 6p, 20q and 21q (> 30.0%). (2) The frequently gained chromosome arm translocation associated with ARMS were 12q, 10q, 2p, 2q, 6p, 6q, 1p, 4q, 8q, 11q, 14q and 15q (> 30.0%). The frequently lost chromosome arms were 3p, 5q, 6p, 1q, 8p, 11p, 20q and 21q (> 30.0%). (3) There were no correlation between chromosome changes and histological type, pathologic grade, clinical stage, gender and age, respectively.


CONCLUSIONS
These observations suggest that: (1) 12q, 2p, 6p, 6q, 10q, 2q, 4q, 15q, 1p, 9q, 14q, 18q gain and 3p, 6p, 20q, 21q loss may correlated with ARMS-related carcinogenesis; (2) 12q gain may be correlated with translocation.
Li
Qiao-xin
QX
Department of Pathology, Xinjiang Medical University, the First Affiliated Hospital, Urumqi 830054, China. liqiaoxin2141@yahoo.com.cn
Li
Feng
F
Zhang
Wei
W
Liu
Xia
X
Ma
Yu-qing
YQ
Shi
Xiao-li
XL
Miao
Na
N
D000293:Adolescent; D000328:Adult; D000368:Aged; D045744:Cell Line, Tumor; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009367:Neoplasm Staging; D015514:Oncogene Proteins, Fusion / Q000378:metabolism; D051763:PAX7 Transcription Factor / Q000378:metabolism; D018232:Rhabdomyosarcoma, Alveolar / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D055815:Young Adult
D015514:Oncogene Proteins, Fusion; C523321:PAX3-FKHR fusion protein, human; D051763:PAX7 Transcription Factor; C497321:PAX7 protein, human