Translocation t(3;12)(q26;q21) In Jak2^V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

1. Jaffe ES, Harris NL, Stein H, Vardiman JW, Eds. Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. World Health Organization Classification of Tumours, vol 3. Lyon, France: IARC Press, 2001.Search in Google Scholar

2. Heim S, Mitelman F, Eds. Chronic myeloproliferative didorders. In: Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells, 2nd ed. New York, NY: Wiley-Liss. 1995: 166-172.Search in Google Scholar

3. Reilly JT, Snowden JA, Spearing RL, Fitzgerald PM, Jones N, Watmore A, et al. Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: A study of 106 cases. Br J Haematol. 1997; 98(1): 96-102.10.1046/j.1365-2141.1997.1722990.xSearch in Google Scholar

4. Dupriez B, Morel P, Demory JL, Simon M, Plantier I, Bauters F. Prognostic factors in agnogenic myeloid metaplasia: A report on 195 cases with a new scoring system. Blood. 1996; 88(3): 1013-1018.10.1182/blood.V88.3.1013.1013Search in Google Scholar

5. Baxter EJ, Scott LM, Campbell P, East C, Forouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005; 365(9464): 1054-1061.10.1016/S0140-6736(05)71142-9Search in Google Scholar

6. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al. A gain of function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005; 352(17): 1779-1790.10.1056/NEJMoa051113Search in Google Scholar

7. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005; 7(4): 387-397.10.1016/j.ccr.2005.03.023Search in Google Scholar

8. Steensma DP, Dewald GW, Lasho TL. The JAK2 V617F activating tyrosine kinase mutation is an infrequent eventh in both “atypical” myeloproliferative disorders and myelodisplastic syndromes. Blood. 2005; 106(4): 1207-1209.10.1182/blood-2005-03-1183Search in Google Scholar

9. Huret JL. t(3;12)(q26;q21). Atlas Genet Cytogenet Oncol Haematol. 2007. (http://AtlasGeneticsOncology. org/Anomalies/t0312q26q-21ID1280. html).Search in Google Scholar

10. Shaffer LG, Tommerup N, Eds. An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: S. Karger, 2005.Search in Google Scholar

11. Andrieux J, Demory JL, Morel P, Plantier I, Dupriez B, Caulier MT, et al. Frequency of structural abnormalities of the long arm of chromosome 12 in myelofibrosis with myeloid metaplasia.Cancer Genet Cytogenet. 2002; 137(1): 68-71.10.1016/S0165-4608(02)00554-XSearch in Google Scholar

12. Nunoda K, Sashida G, Ohyashiki K, Kodama A, Fukutake K. The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: Impact of the 12q21 breakpoint. Cancer Genet Cytogenet. 2006; 164(1): 90-91.10.1016/j.cancergencyto.2005.06.014Search in Google Scholar

13. Przepiorka D, Bryant E, Kidd P. Idiopathic myelofibrosis in blast transformation with 4;12 and 5;12 translocation and a 7q deletion. Cancer Genet Cytogenet. 1988; 30(1): 139-144.10.1016/0165-4608(88)90102-1Search in Google Scholar

14. Cho HS, Hyun MS. A novel jumping translocation of 12q21 in a patient with chronic idiopathic myelofibrosis. Korean J Hematol. 2006; 41(2): 99-104.10.5045/kjh.2006.41.2.99Search in Google Scholar

15. Poppe B, Dastugue N, Vandesompele J, Cauwelier B, De Smet B, Yigit N, et al. EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements. Genes Chromosomes Cancer. 2006; 45(4): 349-356.10.1002/gcc.20295Search in Google Scholar

16. Kvasnicka HM, Thiele J, Werden C, Zankovich R, Diehl V, Fischer R. Prognostic factors in idiopathic (primary) osteomyelofibrosis. Cancer. 1997; 80(4): 708-719. 10.1002/(SICI)1097-0142(19970815)80:4<708::AID-CNCR9>3.0.CO;2-ISearch in Google Scholar

17. Jones AV, Kreil S, Zoi K. Waghorn K, Curtis C, Zhang L, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005; 106(6): 2162-2168.10.1182/blood-2005-03-1320Search in Google Scholar

18. Ahmed A, Chang CC. Chronic idiopathic myelofibrosis. Arch Pathol Lab Med .2006; 130(8): 1133-1143. 10.5858/2006-130-1133-CIMSearch in Google Scholar