8p11 myeloproliferative syndrome

The 8p11 myeloproliferative syndrome (EMS) is a chronic myeloproliferative disorder molecularly characterized by fusion of various 5’ partner genes to the 3’ part of the fibroblast growth factor receptor 1 (FGFR1) gene at 8p11, resulting in constitutive activation of the tyrosine kinase activity contained within FGFR1.

EMS is associated with a high risk of transformation to acute myeloid leukemia (AML), but the mechanisms underlying the disease progression are unknown.

Cytogenetics

 t(8;22)(p11;q11) (BCR/FGFR1)
 t(8;9)(p12;q33) (CEP1/FGFR1) (10688839, 18295660)

Additional anomalies

 t(9;21)(q34;q22)

• RUNX1 truncation

References

References

 Park TS, Song J, Kim JS, Yang WI, Song S, Kim SJ, Suh B, Choi JR. 8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. Cancer Genet Cytogenet. 2008 Mar;181(2):93-9. PMID: 18295660

 Guasch, G.; Mack, G. J.; Popovici, C.; Dastugue, N.; Birnbaum, D.; Rattner, J. B.; Pebusque, M.-J. : FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). Blood 95: 1788-1796, 2000. PubMed ID : 10688839

 Agerstam H, Lilljebjorn H, Lassen C, Swedin A, Richter J, Vandenberghe P, Johansson B, Fioretos T. Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome. Genes Chromosomes Cancer. 2007 Jul;46(7):635-43. PMID: 17394134