Home > G. Tumoral pathology > embryonal rhabdomyosarcoma
embryonal rhabdomyosarcoma
Tuesday 25 November 2003
Images
Vaginal mass. In embryonal rhabdomyosarcoma, botryoid type. Cambium layer, rhabdomyoblasts vary from round to strap-shaped cells.
Digital cases
HPC:181 : Embryonal rhabdomyosarcoma of the maxillary region
HPC:210 : Embryonal rhabdomyosarcoma
HPC:211 : Botryoid embryonal rhabdomyosarcoma
HPC:250 : Botryoid embryonal rhabdomyosarcoma of the nasopharynx.
JRC:19400 : Pulmonary embryonal rhabdomyosarcoma.
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-assocciated rhabdomyosarcoma)
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)
Differential diagnosis
alveolar rhabdomyosarcoma
- embryonal-like alveolar rhabdomyosarcoma (15120913)
rhabdomyoma
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% | - |
Whole-genome allelotyping: 9315099
LOH studies
11p15.5 LOH (8566947, 1347425, 10935489, 9315099)
11q LOH (12048708)
16q (9315099)
Molecular biology
disruption of imprinted genes at chromosome region 11p15.5 (10935489)
- biallelic expression of IGF2 (8040287)
- 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
See also
Tumors
- 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