Translocation t(3;12)(q26;q21) In Jak2V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

Mešanović S.; Šahović H.; Perić M.

doi:10.2478/bjmg-2014-0026

Abstract

The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced. Chronic idiopathic myelofibrosis (CIMF) is a stem cell defect characterized by splenomegaly with multiorgan extramedullary hematopoiesis, immature peripheral blood granulocytes and erythrocytes and progressive bone marrow fibrosis. The most common chromosomal abnormalities seen in CIMF patients include numerical changes of chromosomes 7, 8 and 9, and structural changes of 1q, 5q, 13q and 20q. At least 75.0% of patients with bone marrow abnormalities have one or more of these chromosomal anomalies. Detection of the Janus kinase 2 (JAK2) mutation may be a potential major breakthrough for understanding the pathobiology of MPNs, and is an essential part of the diagnostic algorithm. In this study, we describe a JAK2^V617F mutation negative CIMF patient who has the chromosomal translocation t(3;12)(q26;q21) in her karyotype.

References

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.x
Search 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.V88.3.1013.1013
Search 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)71142-9
Search 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/NEJMoa051113
Search 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.2005.03.023
Search 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-2005-03-1183
Search 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-X
Search 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.2005.06.014
Search 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)90102-1
Search 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.2006.41.2.99
Search 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.20295
Search 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-I
Search 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-2005-03-1320
Search 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-CIM
Search in Google Scholar

Translocation t(3;12)(q26;q21) In Jak2V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

Abstract

Paradigm

My account