Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report.

Autor:	Shi XB; Department of Hematology and Oncology, Tongling People's Hospital, Tongling 244000, Anhui Province, China. sxbtlph@163.com., Jiang JF; Department of Hematology and Oncology, Tongling People's Hospital, Tongling 244000, Anhui Province, China., Jin FX; Department of Hematology and Oncology, Tongling People's Hospital, Tongling 244000, Anhui Province, China., Cheng W; Department of Hematology and Oncology, Tongling People's Hospital, Tongling 244000, Anhui Province, China.
Jazyk:	angličtina
Zdroj:	World journal of clinical cases [World J Clin Cases] 2019 May 06; Vol. 7 (9), pp. 1087-1092.
DOI:	10.12998/wjcc.v7.i9.1087
Abstrakt:	Background: The Janus kinase 2 ( JAK2 ) V617F 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 V617F 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-ABL 1 (32.31%) by fluorescent polymerase chain reaction (PCR) and mutation of JAK2 V617F (10%) by PCR and Sanger DNA sequencing. The patient was diagnosed with CML and JAK2 V617F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCR-ABL1 (IS) was 0.143%, while the mutation rate of JAK2 V617F 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. Competing Interests: Conflict-of-interest statement: The authors declare that they have no conflicts of interests.
Databáze:	MEDLINE
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