Skip to main content
Erschienen in: International Journal of Hematology 6/2013

01.06.2013 | Case Report

Two CML patients who subsequently developed features of essential thrombocythemia with JAK2-V617F mutation while in complete cytogenetic remission after treatment with imatinib mesylate

verfasst von: Yoo Jin Lee, Joon Ho Moon, Ho Cheol Shin, Jong Won Seo, Seo Ae Han, Sang Kyeong Seo, Sang Kyun Sohn

Erschienen in: International Journal of Hematology | Ausgabe 6/2013

Einloggen, um Zugang zu erhalten

Abstract

The present report describes two chronic myelogenous leukemia (CML) patients with the JAK2-V617F mutation who were in complete hematologic and cytogenetic remission and subsequently developed clinical features of essential thrombocythemia under treatment with tyrosine kinase inhibitors. In light of the findings from previous reports, screening for the JAK2-V617F mutation should be considered for any Ph+ CML patients with thrombocytosis, leukocytosis, or erythrocytosis at diagnosis and for patients who subsequently develop thrombocytosis, leukocytosis, or erythrocytosis during follow-up, even for CML patients in complete cytogenetic response and major molecular response.
Literatur
1.
Zurück zum Zitat Samanta A, Perazzona B, Chakraborty S, Sun X, Modi H, Bhatia R, et al. Janus kinase 2 regulates Bcr–Abl signaling in chronic myeloid leukemia. Leukemia. 2011;25(3):463–72.PubMedCrossRef Samanta A, Perazzona B, Chakraborty S, Sun X, Modi H, Bhatia R, et al. Janus kinase 2 regulates Bcr–Abl signaling in chronic myeloid leukemia. Leukemia. 2011;25(3):463–72.PubMedCrossRef
2.
Zurück zum Zitat Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054–61.PubMed Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:1054–61.PubMed
3.
Zurück zum Zitat Scott LM, Campbell PJ, Baxter EJ, Todd T, Stephens P, Edkins S, et al. The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood. 2005;106:2920–1.PubMedCrossRef Scott LM, Campbell PJ, Baxter EJ, Todd T, Stephens P, Edkins S, et al. The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood. 2005;106:2920–1.PubMedCrossRef
4.
Zurück zum Zitat Hussein K, Bock O, Theophile K, Seegers A, Arps H, Basten O, et al. Chronic myeloproliferative diseases with concurrent BCR-ABL junction and JAK2V617F mutation. Leukemia. 2008;22(5):1059–62.PubMedCrossRef Hussein K, Bock O, Theophile K, Seegers A, Arps H, Basten O, et al. Chronic myeloproliferative diseases with concurrent BCR-ABL junction and JAK2V617F mutation. Leukemia. 2008;22(5):1059–62.PubMedCrossRef
5.
Zurück zum Zitat Inami M, Inokuchi K, Okabe M, Kosaka F, Mitamura Y, Yamaguchi H, et al. Polycythemia associated with the JAK2V617F mutation emerged during treatment of chronic myelogenous leukemia. Leukemia. 2007;21(5):1103–4.PubMed Inami M, Inokuchi K, Okabe M, Kosaka F, Mitamura Y, Yamaguchi H, et al. Polycythemia associated with the JAK2V617F mutation emerged during treatment of chronic myelogenous leukemia. Leukemia. 2007;21(5):1103–4.PubMed
6.
Zurück zum Zitat Hussein K, Bock O, Seegers A, Flasshove M, Henneke F, Buesche G, et al. Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation. Blood. 2007;109(9):4106–7.PubMedCrossRef Hussein K, Bock O, Seegers A, Flasshove M, Henneke F, Buesche G, et al. Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation. Blood. 2007;109(9):4106–7.PubMedCrossRef
7.
Zurück zum Zitat Jallades L, Hayette S, Tigaud I, Johnston A, Coiffier B, Magaud JP, et al. Emergence of therapy-unrelated CML on a background of BCR-ABL-negative JAK2V617F-positive chronic idiopathic myelofibrosis. Leuk Res. 2008;32(10):1608–10.PubMedCrossRef Jallades L, Hayette S, Tigaud I, Johnston A, Coiffier B, Magaud JP, et al. Emergence of therapy-unrelated CML on a background of BCR-ABL-negative JAK2V617F-positive chronic idiopathic myelofibrosis. Leuk Res. 2008;32(10):1608–10.PubMedCrossRef
8.
Zurück zum Zitat Bornhauser M, Mohr B, Oelschlaegel U, Bornhäuser P, Jacki S, Ehninger G, et al. Concurrent JAK2 (V617F) mutation and BCR-ABL translocation within committed myeloid progenitors in myelofibrosis. Leukemia. 2007;21:1824–6.PubMedCrossRef Bornhauser M, Mohr B, Oelschlaegel U, Bornhäuser P, Jacki S, Ehninger G, et al. Concurrent JAK2 (V617F) mutation and BCR-ABL translocation within committed myeloid progenitors in myelofibrosis. Leukemia. 2007;21:1824–6.PubMedCrossRef
9.
Zurück zum Zitat Busche G, Hussein K, Bock O, Kreipe H. Insights into JAK2-V617F mutation in CML. Lancet Oncol. 2007;8:863–4.PubMedCrossRef Busche G, Hussein K, Bock O, Kreipe H. Insights into JAK2-V617F mutation in CML. Lancet Oncol. 2007;8:863–4.PubMedCrossRef
10.
Zurück zum Zitat Cambier N, Renneville A, Cazaentre T, Soenen V, Cossement C, Giraudier S, et al. JAK2V617F-positive polycythemia vera and Philadelphia chromosome-positive chronic myeloid leukemia: one patient with two distinct myeloproliferative disorders. Leukemia. 2008;22(7):1454–5.PubMedCrossRef Cambier N, Renneville A, Cazaentre T, Soenen V, Cossement C, Giraudier S, et al. JAK2V617F-positive polycythemia vera and Philadelphia chromosome-positive chronic myeloid leukemia: one patient with two distinct myeloproliferative disorders. Leukemia. 2008;22(7):1454–5.PubMedCrossRef
11.
Zurück zum Zitat Cappetta M, Pérez V, Zubillaga MN, Elizondo V, Manrique G, Prosper I, et al. Concomitant detection of BCR-ABL translocation and JAK2 V617F mutation in five patients with myeloproliferative neoplasm at diagnosis. Int J Lab Hematol. 2013;35(1):e4–5.PubMedCrossRef Cappetta M, Pérez V, Zubillaga MN, Elizondo V, Manrique G, Prosper I, et al. Concomitant detection of BCR-ABL translocation and JAK2 V617F mutation in five patients with myeloproliferative neoplasm at diagnosis. Int J Lab Hematol. 2013;35(1):e4–5.PubMedCrossRef
12.
Zurück zum Zitat Hummel JM, Kletecka MC, Sanks JK, Chiselite MD, Roulston D, Smith LB, et al. Concomitant BCR-ABL1 translocation and JAK2(V617F) mutation in three patients with myeloproliferative neoplasms. Diagn Mol Pathol. 2012;21(3):176–83.PubMedCrossRef Hummel JM, Kletecka MC, Sanks JK, Chiselite MD, Roulston D, Smith LB, et al. Concomitant BCR-ABL1 translocation and JAK2(V617F) mutation in three patients with myeloproliferative neoplasms. Diagn Mol Pathol. 2012;21(3):176–83.PubMedCrossRef
13.
Zurück zum Zitat Xiao X, Zhang Y, Zhang GS, Zheng WL, Xiao L, Liu SF. Coexistence of JAK2V617F mutation and BCR-ABL1 transcript in two Chinese patients with chronic myelogenous leukemia. Acta Haematol. 2012;127(1):47–9.PubMedCrossRef Xiao X, Zhang Y, Zhang GS, Zheng WL, Xiao L, Liu SF. Coexistence of JAK2V617F mutation and BCR-ABL1 transcript in two Chinese patients with chronic myelogenous leukemia. Acta Haematol. 2012;127(1):47–9.PubMedCrossRef
14.
Zurück zum Zitat Toogeh G, Ferdowsi S, Naadali F, Alimoghaddam K, Ghavamzadeh A, Shirkoohi R, et al. Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera. Med Oncol. 2011;28(4):1555–8.PubMedCrossRef Toogeh G, Ferdowsi S, Naadali F, Alimoghaddam K, Ghavamzadeh A, Shirkoohi R, et al. Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polycythemia vera. Med Oncol. 2011;28(4):1555–8.PubMedCrossRef
15.
Zurück zum Zitat Tefferi A, Levitt R, Lasho TL, Knudson RA, Ketterling RP. Postimatinib therapy emergence of a new JAK2V617F clone and subsequent development of overt polycythemia vera in a patient with chronic myelogenous leukaemia. Eur J Haematol. 2010;85(1):86–7.PubMed Tefferi A, Levitt R, Lasho TL, Knudson RA, Ketterling RP. Postimatinib therapy emergence of a new JAK2V617F clone and subsequent development of overt polycythemia vera in a patient with chronic myelogenous leukaemia. Eur J Haematol. 2010;85(1):86–7.PubMed
16.
Zurück zum Zitat Caocci G, Atzeni S, Orrù N, Littera R, Culurgioni F, Marongiu F, et al. Response to imatinib in a patient with chronic myeloid leukemia simultaneously expressing p190(BCR-ABL) oncoprotein and JAK2V617F mutation. Leuk Res. 2010;34(1):e27–9.PubMedCrossRef Caocci G, Atzeni S, Orrù N, Littera R, Culurgioni F, Marongiu F, et al. Response to imatinib in a patient with chronic myeloid leukemia simultaneously expressing p190(BCR-ABL) oncoprotein and JAK2V617F mutation. Leuk Res. 2010;34(1):e27–9.PubMedCrossRef
17.
Zurück zum Zitat Pardini S, Fozza C, Contini S, Rimini E, Ottaviani E, Amabile M, et al. A case of coexistence between JAK2V617F and BCR/ABL. Eur J Haematol. 2008;81(1):75–6.PubMedCrossRef Pardini S, Fozza C, Contini S, Rimini E, Ottaviani E, Amabile M, et al. A case of coexistence between JAK2V617F and BCR/ABL. Eur J Haematol. 2008;81(1):75–6.PubMedCrossRef
18.
Zurück zum Zitat Kim YK, Shin MG, Kim HR, Yang DH, Cho SH, Lee JJ, et al. Simultaneous occurrence of the JAK2V617F mutation and BCR-ABL gene rearrangement in patients with chronic myeloproliferative disorders. Leuk Res. 2008;32(6):993–5.PubMedCrossRef Kim YK, Shin MG, Kim HR, Yang DH, Cho SH, Lee JJ, et al. Simultaneous occurrence of the JAK2V617F mutation and BCR-ABL gene rearrangement in patients with chronic myeloproliferative disorders. Leuk Res. 2008;32(6):993–5.PubMedCrossRef
19.
Zurück zum Zitat Kramer A, Reiter A, Kruth J, Erben P, Hochhaus A, Müller M, et al. JAK2–V617F mutation in a patient with Philadelphia chromosome-positive chronic myeloid leukaemia. Lancet Oncol. 2007;8:658–60.PubMedCrossRef Kramer A, Reiter A, Kruth J, Erben P, Hochhaus A, Müller M, et al. JAK2–V617F mutation in a patient with Philadelphia chromosome-positive chronic myeloid leukaemia. Lancet Oncol. 2007;8:658–60.PubMedCrossRef
20.
Zurück zum Zitat Lisa P, Ambra S, Barbara S, Umberto O, Silvia B, Alberto B, et al. Concomitant occurrence of BCR-ABL and JAK2-V617F mutation. Blood. 2011;118:3445–6.CrossRef Lisa P, Ambra S, Barbara S, Umberto O, Silvia B, Alberto B, et al. Concomitant occurrence of BCR-ABL and JAK2-V617F mutation. Blood. 2011;118:3445–6.CrossRef
21.
Zurück zum Zitat Kwong YL, Chiu EK, Liang RH, Chan V, Chan TK. Essential thrombocythemia with BCR/ABL rearrangement. Cancer Genet Cytogenet. 1996;89(1):74–6.PubMedCrossRef Kwong YL, Chiu EK, Liang RH, Chan V, Chan TK. Essential thrombocythemia with BCR/ABL rearrangement. Cancer Genet Cytogenet. 1996;89(1):74–6.PubMedCrossRef
22.
Zurück zum Zitat Stoll DB, Peterson P, Exten R, Laszlo J, Pisciotta AV, Ellis JT, et al. Clinical presentation and natural history of patients with essential thrombocythemia and the Philadelphia chromosome. Am J Hematol. 1988;27(2):77–83.PubMedCrossRef Stoll DB, Peterson P, Exten R, Laszlo J, Pisciotta AV, Ellis JT, et al. Clinical presentation and natural history of patients with essential thrombocythemia and the Philadelphia chromosome. Am J Hematol. 1988;27(2):77–83.PubMedCrossRef
Metadaten
Titel
Two CML patients who subsequently developed features of essential thrombocythemia with JAK2-V617F mutation while in complete cytogenetic remission after treatment with imatinib mesylate
verfasst von
Yoo Jin Lee
Joon Ho Moon
Ho Cheol Shin
Jong Won Seo
Seo Ae Han
Sang Kyeong Seo
Sang Kyun Sohn
Publikationsdatum
01.06.2013
Verlag
Springer Japan
Erschienen in
International Journal of Hematology / Ausgabe 6/2013
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-013-1326-8

Weitere Artikel der Ausgabe 6/2013

International Journal of Hematology 6/2013 Zur Ausgabe

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.