embryonal rhabdomyosarcoma
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Epidemiology
Localizations
bladder (vesical embryonal rhabdomyosarcoma)
uterine cervix (uterine embryonal rhabdomyosarcoma) (14599884)
prostate (prostatic embryonal rhabdomyosarcoma)
spermatic cord (paratesticular embryonal rhabdomyosarcoma)
biliary tract embryonal rhabdomyosarcoma (17378682)
ampulla of Vater (2286899)
orbite (orbital embryonal rhabdomyosarcoma)
breast (mammary embryonal rhabdomyosarcoma) (17330703)
lungs (pulmonary embryonal rhabdomyosarcoma) (17259778)
uterine cervix (cervical embryonal rhabdomyosarcoma) (17259778)
long bones (8554114), mandible (12598923)
Predisposition
Beckwith-Wiedemann syndrome (BWS)
hemihypertrophy (#hemihypertrophy#)
Li-Fraumeni syndrome (TP53 germline mutations) (16206219, 9595036)
variegated mosaic aneuploidy syndrome (14608201)
naevoid basal cell carcinoma syndrome (NBCCS) (germline mutations in the hedgehog receptor PTCH gene) (16294371, 12204003)
neurofibromatosis type 1 (NF1) (16434322)
Associations
ovarian Sertoli-Leydig cell tumour (17347287)
Variants
embryonal botryoid rhabdomyosarcoma (EBR)
pseudo-alveolar embryonal RMS (11826361)
Cytogenetics
ring chromosome 13 (1867278)
translocation (8;11)(q12-13;q21) (1551093)
der(16)t(1;16) resulting in an imbalance of 1q and 16q material (17350470)
CGH (11807989)
| gains | 2q | Chr.3 | 7q | 8p | 11q | 12q13-15 | 13q14 | 20p | |
| % | 40% | - | 31% | 53% | 31% | 49% | 22% | 31% | |
| losses | 1p36 | 3p14-21 | 9q21-22 | 10q22-qter | Chr.14 | 16q | 17p | Chr.22 | Chr.X |
| % | 27% | 22% | 33% | 18% | - | 27% | 22% | 22% | - |
LOH studies
11p15.5 LOH (8566947, 1347425, 10935489, 9315099)
11q LOH (12048708)
16q (9315099)
Whole-genome allelotyping: 9315099
Molecular biology
disruption of imprinted genes at chromosome region 11p15.5 (10935489)
- PTCH1 gene coding for Patched-1 at 9q22.3
- CDKN2A gene (p16/MTS1) (9664128)
- SLC22A1L gene (BWR1A) at 11p15.5
- HRAS (17164262)
- uniparental disomy at chromosome 11p15.5 followed by HRAS mutations (17164262)
Genomic amplification
IGF1R (insulin-like growth factor type I receptor) at 15q25-26 (15q25-26 amplicon)
Cytogenetics
tumoral trisomies
- trisomy 2
- trisomy 8
- tumoral trisomy 13
chromosomal rearrangements
der(2)t(2;7)(q36-q37;q3?) (12550761)
del(14)(q24) (12550761)
der(16)t(1;16)(q21;q13) (12550761)
Chr.1 rearrangements (12063389)
Chr.2 rearrangements (12063389)
Chr.15 rearrangements (12063389)
Expression profiling (12845631)
Differential diagnosis
- embryonal-like alveolar rhabdomyosarcoma (15120913)
rhabdomyoma
See also
- skeletal muscle tumors
- rhabdomyosarcomas
- Patched-associated rhabdomyosarcoma (12845631)
- alveolar rhabdomyosarcoma
- rhabdomyosarcomas
References
Roberts I, Gordon A, Wang R, Pritchard-Jones K, Shipley J, Coleman N. Molecular cytogenetic analysis consistently identifies translocations involving chromosomes 1, 2 and 15 in five embryonal rhabdomyosarcoma cell lines and a PAX-FOXO1A fusion gene negative alveolar rhabdomyosarcoma cell line. Cytogenet Cell Genet. 2001;95(3-4):134-42. PMID: 12063389
Anderson J, Gordon A, Pritchard-Jones K, Shipley J. Genes, chromosomes, and rhabdomyosarcoma. Genes Chromosomes Cancer. 1999 Dec;26(4):275-85. Review. PMID: 10534762