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MIM.136533 13q14.1 HGNC.3819

Friday 2 February 2007



- PAX3-FOXO1 or PAX7-FOXO1 fusion genes in alveolar rhabdomyosarcoma

  • Alveolar rhabdomyosarcoma (ARMS) is an aggressive neoplasm with unique t(2;13)(q35;q14) or t(1;13)(p36;q14) chromosomal translocations, resulting in PAX3/FOXO1 and PAX7/FOXO1 fusion genes, in approximately 80% of cases.
  • These translocations and their gene fusions have not been identified in other neoplasms, making their identification an attractive target for applying ancillary diagnostic techniques such as fluorescence in situ hybridization (FISH).

- PAX3-FOXO1 fusion gene in :


- Alternate PAX3-FOXO1 oncogenic fusion in biphenotypic sinonasal sarcoma.
Wong WJ, Lauria A, Hornick JL, Xiao S, Fletcher JA, Marino-Enriquez A. Genes Chromosomes Cancer. 2016 Jan;55(1):25-9. doi : 10.1002/gcc.22295
PMID: 26355893

- Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, Bridge JA, Crist WM, Triche TJ, Barr FG. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children’s oncology group. J Clin Oncol. 2002 Jun 1;20(11):2672-9. PMID: 12039929

- Anderson J, Gordon T, McManus A, Mapp T, Gould S, Kelsey A, McDowell H, Pinkerton R, Shipley J, Pritchard-Jones K; UK Children’s Cancer Study Group (UKCCSG) and the UK Cancer Cytogenetics Group. Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome? Br J Cancer. 2001 Sep 14;85(6):831-5. PMID: 11556833

- Collins MH, Zhao H, Womer RB, Barr FG. Proliferative and apoptotic differences between alveolar rhabdomyosarcoma subtypes: a comparative study of tumors containing PAX3-FKHR or PAX7-FKHR gene fusions. Med Pediatr Oncol. 2001 Aug;37(2):83-9. PMID: 11496344

- FOXOA1 deletion in cancer

  • Deletion at FOXO1A was detected in 31% to 34% in 6 cell lines, 27 xenografts, and 72 clinical specimens of prostate cancer, and was significantly more frequent than deletions at surrounding loci. (16849544)

- down-regulation of FOXOA1

  • FOXO1A was transcriptionally down-regulated in some prostate cancers. Functionally, ectopic expression of FOXO1A inhibited, and its knockdown promoted, cell proliferation or survival. (16849544)
  • FOXO1A inhibited androgen- and androgen receptor-mediated gene regulation and cell proliferation. (16849544)
  • FOXO1A is the 13q14 tumor suppressor gene, at least in prostate cancer. (16849544)
  • As a well-established negative effector in the phosphatidylinositol 3-kinase/AKT signaling pathway, FOXO1A inactivation in cancer would impair the therapeutic effect of phosphatidylinositol 3-kinase/AKT inhibitors in cancer treatment. (16849544)

- Constitutive phosphorylation of the FOXO1A transcription factor as a prognostic variable in gastric cancer (17491598)

FOXO1 (13q14) FISH

FOXO1 (13q14) FISH on formalin-fixed, paraffin-embedded tissues samples showed excellent concordance with reverse transcription polymerase chain reaction and cytogenetic analyses in ARMS cases, demonstrated excellent specificity (100%) when applied to potential mimickers such as EWS/PNET, and played an important role in the differential diagnosis of small round cell tumors.


- The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma. Downs-Kelly E, Shehata BM, L√≥pez-Terrada D, Weaver J, Patel RM, Hartke M, Tubbs RR, Skacel M, Goldblum JR. Diagn Mol Pathol. 2009 Sep;18(3):138-43. PMID: 19704258

- Kim JH, Kim MK, Lee HE, Cho SJ, Cho YJ, Lee BL, Lee HS, Nam SY, Lee JS, Kim WH. Constitutive phosphorylation of the FOXO1A transcription factor as a prognostic variable in gastric cancer. Mod Pathol. 2007 Aug;20(8):835-42. PMID: 17491598

- Dong XY, Chen C, Sun X, Guo P, Vessella RL, Wang RX, Chung LW, Zhou W, Dong JT. FOXO1A is a candidate for the 13q14 tumor suppressor gene inhibiting androgen receptor signaling in prostate cancer. Cancer Res. 2006 Jul 15;66(14):6998-7006. PMID: 16849544

- Barr FG. Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma. Oncogene. 2001 Sep 10;20(40):5736-46. PMID: 11607823

- Barr, F. G.; Galili, N.; Holick, J.; Biegel, J. A.; Rovera, G.; Emanuel, B. S. Rearrangement of the PAX3 paired box gene in the paediatric solid tumor alveolar rhabdomyosarcoma. Nature Genet. 3: 113-117, 1993. PubMed ID : 8098985