embryonal rhabdomyosarcoma

Images

 Vaginal mass. In embryonal rhabdomyosarcoma, botryoid type. Cambium layer, rhabdomyoblasts vary from round to strap-shaped cells.

• https://twitter.com/A_Elshaikh/status/893992220356997120

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)

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