Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report
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摘要
BACKGROUND The Janus kinase 2(JAK2) V617 F mutation is common in patients with breakpoint cluster region-Abelson1(BCR-ABL1)-negative myeloproliferative neoplasms,including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia(CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617 F mutation.CASE SUMMARY A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46,XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis,rearrangement of BCR-ABL1(32.31%) by fluorescent polymerase chain reaction(PCR) and mutation of JAK2 V617 F(10%) by PCR and Sanger DNA sequencing.The patient was diagnosed with CML and JAK2 V617 F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCRABL1(IS) was 0.143%, while the mutation rate of JAK2 V617 F rose to 15%.CONCLUSION Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies.
BACKGROUND The Janus kinase 2(JAK2) V617 F mutation is common in patients with breakpoint cluster region-Abelson1(BCR-ABL1)-negative myeloproliferative neoplasms,including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia(CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617 F mutation.CASE SUMMARY A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46,XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis,rearrangement of BCR-ABL1(32.31%) by fluorescent polymerase chain reaction(PCR) and mutation of JAK2 V617 F(10%) by PCR and Sanger DNA sequencing.The patient was diagnosed with CML and JAK2 V617 F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCRABL1(IS) was 0.143%, while the mutation rate of JAK2 V617 F rose to 15%.CONCLUSION Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies.
BACKGROUND The Janus kinase 2(JAK2) V617 F mutation is common in patients with breakpoint cluster region-Abelson1(BCR-ABL1)-negative myeloproliferative neoplasms,including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia(CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617 F mutation.CASE SUMMARY A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46,XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis,rearrangement of BCR-ABL1(32.31%) by fluorescent polymerase chain reaction(PCR) and mutation of JAK2 V617 F(10%) by PCR and Sanger DNA sequencing.The patient was diagnosed with CML and JAK2 V617 F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCRABL1(IS) was 0.143%, while the mutation rate of JAK2 V617 F rose to 15%.CONCLUSION Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies.
引文
1 Jabbour E,Kantarjian H.Chronic myeloid leukemia:2016 update on diagnosis,therapy,and monitoring.Am J Hematol 2016;91:252-265[PMID:26799612 DOI:10.1002/ajh.24275]
2 Barbui T,Thiele J,Gisslinger H,Kvasnicka HM,Vannucchi AM,Guglielmelli P,Orazi A,Tefferi A.The2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms:document summary and in-depth discussion.Blood Cancer J 2018;8:15[PMID:29426921 DOI:10.1038/s41408-018-0054-y]
3 Kr?mer A,Reiter A,Kruth J,Erben P,Hochhaus A,Müller M,Cross NC,Jones AV,Ho AD,Hensel M.JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia.Lancet Oncol 2007;8:658-660[PMID:17613428 DOI:10.1016/S1470-2045(07)70206-1]
4 Inami M,Inokuchi K,Okabe M,Kosaka F,Mitamura Y,Yamaguchi H,Dan K.Polycythemia associated with the JAK2V617F mutation emerged during treatment of chronic myelogenous leukemia.Leukemia2007;21:1103-1104[PMID:17301812 DOI:10.1038/sj.leu.2404591]
5 Darling HS,Kumar R,Kapoor R,Singh J,Verma T.BCR-ABL and JAK2V617F Mutation Co-existence,Rare or Just Unexplored.Indian J Hematol Blood Transfus 2017;33:633-635[PMID:29075087 DOI:10.1007/s12288-017-0781-4]
6 Pagnano KB,Delamain MT,Magnus MM,Vassallo J,DE Souza CA,DE Almeida D,Lorand-Metze I.Concomitant essential thrombocythemia with JAK2 V617F mutation in a patient with chronic myeloid leukemia with major molecular response with imatinib and long-term follow-up.Oncol Lett 2016;12:485-487[PMID:27347169 DOI:10.3892/ol.2016.4631]
7 Pastore F,Schneider S,Christ O,Hiddemann W,Spiekermann K.Impressive thrombocytosis evolving in a patient with a BCR-ABL positive CML in major molecular response during dasatinib treatment unmasks an additional JAK2V617F.Exp Hematol Oncol 2013;2:24[PMID:24007855 DOI:10.1186/2162-3619-2-24]
8 Hussein K,Bock O,Seegers A,Flasshove M,Henneke F,Buesche G,Kreipe HH.Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation.Blood 2007;109:4106-4107[PMID:17449802 DOI:10.1182/blood-2006-12-061135]
9 Hassan A,Dogara LG,Babadoko AA,Awwalu S,Mamman AI.Coexistence of JAK2 and BCR-ABLmutation in patient with myeloproliferative neoplasm.Niger Med J 2015;56:74-76[PMID:25657500DOI:10.4103/0300-1652.149177]
10 Campiotti L,Appio L,Solbiati F,Ageno W,Venco A.JAK2-V617F mutation and Philadelphia positive chronic myeloid leukemia.Leuk Res 2009;33:e212-e213[PMID:19589593 DOI:10.1016/j.leukres.2009.06.011]
11 Lewandowski K,Gniot M,Wojtaszewska M,Kandu?a Z,Becht R,Paczkowska E,M?dra?E,Wasilewska E,Iwo?a M.Coexistence of JAK2 or CALR mutation is a rare but clinically important event in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors.Int J Lab Hematol 2018;40:366-371[PMID:29508552 DOI:10.1111/ijlh.12798]
12 Xu W,Chen B,Tong X.Chronic myeloid leukemia patient with co-occurrence of BCR-ABL junction and JAK2 V617F mutation.Int J Hematol 2014;99:87-90[PMID:24293258 DOI:10.1007/s12185-013-1480-z]
13 De Roeck L,Michaux L,Debackere K,Lierman E,Vandenberghe P,Devos T.Coexisting driver mutations in MPN:clinical and molecular characteristics of a series of 11 patients.Hematology 2018;23:785-792[PMID:29993347 DOI:10.1080/10245332.2018.1498182]
14 Pahore ZA,Shamsi TS,Taj M,Farzana T,Ansari SH,Nadeem M,Ahmad M,Naz A.JAK2V617Fmutation in chronic myeloid leukemia predicts early disease progression.J Coll Physicians Surg Pak 2011;21:472-475[PMID:21798133]
2 Barbui T,Thiele J,Gisslinger H,Kvasnicka HM,Vannucchi AM,Guglielmelli P,Orazi A,Tefferi A.The2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms:document summary and in-depth discussion.Blood Cancer J 2018;8:15[PMID:29426921 DOI:10.1038/s41408-018-0054-y]
3 Kr?mer A,Reiter A,Kruth J,Erben P,Hochhaus A,Müller M,Cross NC,Jones AV,Ho AD,Hensel M.JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia.Lancet Oncol 2007;8:658-660[PMID:17613428 DOI:10.1016/S1470-2045(07)70206-1]
4 Inami M,Inokuchi K,Okabe M,Kosaka F,Mitamura Y,Yamaguchi H,Dan K.Polycythemia associated with the JAK2V617F mutation emerged during treatment of chronic myelogenous leukemia.Leukemia2007;21:1103-1104[PMID:17301812 DOI:10.1038/sj.leu.2404591]
5 Darling HS,Kumar R,Kapoor R,Singh J,Verma T.BCR-ABL and JAK2V617F Mutation Co-existence,Rare or Just Unexplored.Indian J Hematol Blood Transfus 2017;33:633-635[PMID:29075087 DOI:10.1007/s12288-017-0781-4]
6 Pagnano KB,Delamain MT,Magnus MM,Vassallo J,DE Souza CA,DE Almeida D,Lorand-Metze I.Concomitant essential thrombocythemia with JAK2 V617F mutation in a patient with chronic myeloid leukemia with major molecular response with imatinib and long-term follow-up.Oncol Lett 2016;12:485-487[PMID:27347169 DOI:10.3892/ol.2016.4631]
7 Pastore F,Schneider S,Christ O,Hiddemann W,Spiekermann K.Impressive thrombocytosis evolving in a patient with a BCR-ABL positive CML in major molecular response during dasatinib treatment unmasks an additional JAK2V617F.Exp Hematol Oncol 2013;2:24[PMID:24007855 DOI:10.1186/2162-3619-2-24]
8 Hussein K,Bock O,Seegers A,Flasshove M,Henneke F,Buesche G,Kreipe HH.Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation.Blood 2007;109:4106-4107[PMID:17449802 DOI:10.1182/blood-2006-12-061135]
9 Hassan A,Dogara LG,Babadoko AA,Awwalu S,Mamman AI.Coexistence of JAK2 and BCR-ABLmutation in patient with myeloproliferative neoplasm.Niger Med J 2015;56:74-76[PMID:25657500DOI:10.4103/0300-1652.149177]
10 Campiotti L,Appio L,Solbiati F,Ageno W,Venco A.JAK2-V617F mutation and Philadelphia positive chronic myeloid leukemia.Leuk Res 2009;33:e212-e213[PMID:19589593 DOI:10.1016/j.leukres.2009.06.011]
11 Lewandowski K,Gniot M,Wojtaszewska M,Kandu?a Z,Becht R,Paczkowska E,M?dra?E,Wasilewska E,Iwo?a M.Coexistence of JAK2 or CALR mutation is a rare but clinically important event in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors.Int J Lab Hematol 2018;40:366-371[PMID:29508552 DOI:10.1111/ijlh.12798]
12 Xu W,Chen B,Tong X.Chronic myeloid leukemia patient with co-occurrence of BCR-ABL junction and JAK2 V617F mutation.Int J Hematol 2014;99:87-90[PMID:24293258 DOI:10.1007/s12185-013-1480-z]
13 De Roeck L,Michaux L,Debackere K,Lierman E,Vandenberghe P,Devos T.Coexisting driver mutations in MPN:clinical and molecular characteristics of a series of 11 patients.Hematology 2018;23:785-792[PMID:29993347 DOI:10.1080/10245332.2018.1498182]
14 Pahore ZA,Shamsi TS,Taj M,Farzana T,Ansari SH,Nadeem M,Ahmad M,Naz A.JAK2V617Fmutation in chronic myeloid leukemia predicts early disease progression.J Coll Physicians Surg Pak 2011;21:472-475[PMID:21798133]