Blood Res.  2020 Mar;55(1):62-65. 10.5045/br.2020.55.1.62.

Clinical significance of myeloproliferative neoplasms with JAK2V617F mutations and major BCR-ABL1 translocations: a literature review with case presentation

• Kim B
• Lee KT
• Yoon YA
• Choi YJ

• KMID: 2472010
• DOI: http://doi.org/10.5045/br.2020.55.1.62

Abstract

No abstract available.

Figure

• 

  Fig. 1 Bone marrow biopsy showing (A) hypercellular marrow with increased megakaryocytes and atypia (H&E stain, ×400) and (B) myelofibrosis grade MF-2 demonstrated by reticulin staining (reticulin stain, ×200). Reverse transcriptase (RT)-PCR analysis of BCR-ABL1 translocation using a HemaVision kit showing a single 397 bp band in the M6B split out PCR, indicating a fusion transcript with BCR-ABL1 (C). Sequencing analysis of the RT-PCR product showing breakpoint located at exon 13 in the BCR gene and exon 2 in the ABL gene (D). Sequencing analysis of JAK2V617F showing a heterozygous JAK2V617F mutation (E).

Reference

1. 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; 127:47–49. PMID: 22025110.

2. Martin-Cabrera P, Haferlach C, Kern W, Schnittger S, Haferlach T. BCR-ABL1-positive and JAK2 V617F-positive clones in 23 patients with both aberrations reveal biologic and clinical importance. Br J Haematol. 2017; 176:135–139. PMID: 26847954.

3. Park SH, Chi HS, Cho YU, et al. Two cases of myeloproliferative neoplasm with a concurrent JAK2 (V617F) mutation and BCR/ABL translocation without chronic myelogenous leukemia phenotype acquisition during hydroxyurea treatment. Ann Lab Med. 2013; 33:229–232. PMID: 23667855.

4. Yi JH, Kim HR. Coexistence of BCR/ABL1-positive chronic myeloid leukemia and JAK2 V617F-mutated myelofibrosis successfully treated with dasatinib and ruxolitinib. Blood Res. 2019; 54:77–79. PMID: 30956968.

5. Bader G, Dreiling B. Concurrent JAK2-positive myeloproliferative disorder and chronic myelogenous leukemia: a novel entity? A case report with review of the literature. J Investig Med High Impact Case Rep. 2019; 7:2324709619832322.

6. Lewandowski K, Gniot M, Wojtaszewska M, et al. 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.

7. Agarwal R, Blombery P, McBean M, et al. Clinicopathological differences exist between CALR- and JAK2-mutated myeloproliferative neoplasms despite a similar molecular landscape: data from targeted next-generation sequencing in the diagnostic laboratory. Ann Hematol. 2017; 96:725–732. PMID: 28161773.

8. Soderquist CR, Ewalt MD, Czuchlewski DR, et al. Myeloproliferative neoplasms with concurrent BCR-ABL1 translocation and JAK2 V617F mutation: a multi-institutional study from the bone marrow pathology group. Mod Pathol. 2018; 31:690–704. PMID: 29327708.

9. Zhou A, Knoche EM, Engle EK, Fisher DA, Oh ST. Concomitant JAK2 V617F-positive polycythemia vera and BCR-ABL-positive chronic myelogenous leukemia treated with ruxolitinib and dasatinib. Blood Cancer J. 2015; 5:e351. PMID: 26430722.