Home > G. Tumoral pathology > embryonal rhabdomyosarcoma

embryonal rhabdomyosarcoma

Tuesday 25 November 2003

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#)

- 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

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#

Portfolio

  • Vulvar embryonal rhabdomyosarcoma
  • Vulvar embryonal rhabdomyosarcoma
  • Vulvar embryonal rhabdomyosarcoma
  • Vulvar embryonal rhabdomyosarcoma
  • Vulvar embryonal rhabdomyosarcoma
  • Vulvar embryonal rhabdomyosarcoma
  • Vulvar embryonal rhabdomyosarcoma
  • Parotidal emryonal rhabdomyosarcoma
  • Parotidal emryonal rhabdomyosarcoma
  • myxoid embryonal rhabdomyosarcoma (Orbit)
  • myxoid embryonal rhabdomyosarcoma (Orbit)
  • myxoid embryonal rhabdomyosarcoma (Orbit)
  • Myxoid embryonal rhabdomyosarcoma (Orbit)
  • Myxoid embryonal rhabdomyosarcoma (Orbit)
  • Myxoid embryonal rhabdomyosarcoma (Orbit)
  • Desmin in myxoid embryonal rhabdomyosarcoma (Orbit)
  • Desmin in myxoid embryonal rhabdomyosarcoma (Orbit)
  • Myogenin in myxoid embryonal rhabdomyosarcoma (Orbit)
  • Vesical embryonal rhabdomyosarcoma
  • Vesical embryonal rhabdomyosarcoma
  • Vesical embryonal rhabdomyosarcoma