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Published in: Indian Journal of Hematology and Blood Transfusion 2/2014

01-06-2014 | Case Report

Chronic Neutrophilic Leukemia with V617F JAK2 Mutation

Authors: Smeeta Gajendra, Ritu Gupta, Meenal Chandgothia, Lalit Kumar, Richa Gupta, Snehal Motilal Chavan

Published in: Indian Journal of Hematology and Blood Transfusion | Issue 2/2014

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Abstract

Chronic neutrophilic leukemia (CNL) is a rare disease grouped under World health organization classification as chronic myeloproliferative disease. It is a diagnosis of exclusion in patients with sustained mature neutrophilia and splenomegaly with no evidence of other myeloproliferative disease or reactive neutrophilia. V617F JAK 2 mutation has been described in classical myeloproliferative diseases, but its association with CNL has been reported in a few cases. Here in, we describe three cases of CNL with presence of V617F JAK 2 mutation. To distinguish CNL from secondary neutrophilia can be difficult. Detection of the V617F JAK 2 mutation in such scenario can provide a useful diagnostic test to establish the neoplastic nature of the neutrophilia.
Literature
1.
go back to reference Reilly JT (2002) Chronic neutrophilic leukaemia: a distinct clinical entity? Br J Haematol 116:10–18PubMedCrossRef Reilly JT (2002) Chronic neutrophilic leukaemia: a distinct clinical entity? Br J Haematol 116:10–18PubMedCrossRef
2.
go back to reference Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365:1054–1061PubMedCrossRef Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365:1054–1061PubMedCrossRef
3.
go back to reference Jones AV, Kriel S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase AJ, Grand FH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou EC, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, Hochhaus A, Oscier D, Silver RT, Reiter A, Cross NCP (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106:2162–2168PubMedCrossRef Jones AV, Kriel S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase AJ, Grand FH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou EC, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, Hochhaus A, Oscier D, Silver RT, Reiter A, Cross NCP (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106:2162–2168PubMedCrossRef
4.
go back to reference Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL, Gilliland G, Tefferi A (2005) The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both atypical” myeloproliferative disorders and myelodysplastic syndromes. Blood 106:1207–1209PubMedCentralPubMedCrossRef Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL, Gilliland G, Tefferi A (2005) The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both atypical” myeloproliferative disorders and myelodysplastic syndromes. Blood 106:1207–1209PubMedCentralPubMedCrossRef
5.
go back to reference McLornan DP, Percy MJ, Jones AV, Cross NCP, McMullin MF (2005) Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation. Haematologica 90:1696–1697 McLornan DP, Percy MJ, Jones AV, Cross NCP, McMullin MF (2005) Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation. Haematologica 90:1696–1697
6.
go back to reference Lea NC, Lim Z, Westwood NB, Amo MJ, Gaken J (2006) Presence of JAK2 V617F tyrosine kinase mutation as a myeloid-lineage-specific mutation in chronic neutrophilic leukaemia. Leukemia 20:1324–1326PubMedCrossRef Lea NC, Lim Z, Westwood NB, Amo MJ, Gaken J (2006) Presence of JAK2 V617F tyrosine kinase mutation as a myeloid-lineage-specific mutation in chronic neutrophilic leukaemia. Leukemia 20:1324–1326PubMedCrossRef
7.
go back to reference Kako S, Kanda Y, Sato T, Goyam S, Noda N, Shoda E, Oshima K, Inoue M, Izutsu K, Watanabe T, Motokura T, Chiba S, Fukayama M, Kurokawa M (2007) Early relapse of JAK2 V617F-positive chronic neutrophilic leukemia with central nervous system infiltration after unrelated bone marrow transplantation. Am J Hematol 82:386–390PubMedCrossRef Kako S, Kanda Y, Sato T, Goyam S, Noda N, Shoda E, Oshima K, Inoue M, Izutsu K, Watanabe T, Motokura T, Chiba S, Fukayama M, Kurokawa M (2007) Early relapse of JAK2 V617F-positive chronic neutrophilic leukemia with central nervous system infiltration after unrelated bone marrow transplantation. Am J Hematol 82:386–390PubMedCrossRef
8.
go back to reference Thiele J (2009) Philadelphia chromosome–negative chronic myeloproliferative disease. Am J Clin Pathol 132:261–280PubMedCrossRef Thiele J (2009) Philadelphia chromosome–negative chronic myeloproliferative disease. Am J Clin Pathol 132:261–280PubMedCrossRef
9.
go back to reference Chen Q, Lu P, Jones AV, Cross NCP, Silver RT, Wang YL (2007) Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. J Mol Diagn 9:272–276PubMedCentralPubMedCrossRef Chen Q, Lu P, Jones AV, Cross NCP, Silver RT, Wang YL (2007) Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. J Mol Diagn 9:272–276PubMedCentralPubMedCrossRef
10.
go back to reference Pane F, Frigeri F, Sindona M, Luciano L, Ferrara F, Cimino R, Meloni G, Saglio G, Salvatore F, Rotoli B (1996) Neutrophilic-chronic myeloid leukemia: a distinct disease with a specific molecular marker. Blood 88:2410–2414PubMed Pane F, Frigeri F, Sindona M, Luciano L, Ferrara F, Cimino R, Meloni G, Saglio G, Salvatore F, Rotoli B (1996) Neutrophilic-chronic myeloid leukemia: a distinct disease with a specific molecular marker. Blood 88:2410–2414PubMed
11.
go back to reference Elliot MA, Hanson CA, Dewald GW, Smoley SA, Lasho TL, Tefferi A (2005) WHO-defined chronic neutrophilic leukemia: a long-term analysis of 12 cases and a critical review of the literature. Leukemia 19:313–317CrossRef Elliot MA, Hanson CA, Dewald GW, Smoley SA, Lasho TL, Tefferi A (2005) WHO-defined chronic neutrophilic leukemia: a long-term analysis of 12 cases and a critical review of the literature. Leukemia 19:313–317CrossRef
12.
go back to reference Kralovics  R, Passamonti  F, Buser  AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC (2005) A  gain-of-function  mutation  of  JAK  in  myeloproliferative  disorders. N  Engl  J  Med 352:1779–1790PubMedCrossRef Kralovics  R, Passamonti  F, Buser  AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC (2005) A  gain-of-function  mutation  of  JAK  in  myeloproliferative  disorders. N  Engl  J  Med 352:1779–1790PubMedCrossRef
Metadata
Title
Chronic Neutrophilic Leukemia with V617F JAK2 Mutation
Authors
Smeeta Gajendra
Ritu Gupta
Meenal Chandgothia
Lalit Kumar
Richa Gupta
Snehal Motilal Chavan
Publication date
01-06-2014
Publisher
Springer India
Published in
Indian Journal of Hematology and Blood Transfusion / Issue 2/2014
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI
https://doi.org/10.1007/s12288-012-0203-6

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