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

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