embryonal rhabdomyosarcoma
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Digital cases
Case 181 (HPC:181): Embryonal rhabdomyosarcoma of the maxillary region
Case 210 (HPC:210) : Embryonal rhabdomyosarcoma
Case 211 (HPC:211) : Botryoid embryonal rhabdomyosarcoma
Case 250 : Botryoid embryonal rhabdomyosarcoma of the nasopharynx
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#)
somatic mutations in
- 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#