Ann Lab Med.  2017 Jan;37(1):77-80. 10.3343/alm.2017.37.1.77.

A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement

• Choi SI
• Jang MA
• Jeong WJ
• Jeon BR
• Lee YW
• Shin HB
• Hong DS
• Lee YK

• KMID: 2373620
• DOI: http://doi.org/10.3343/alm.2017.37.1.77

Abstract

No abstract available.

MeSH Terms

Bone Marrow/pathology
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 9
Core Binding Factor Alpha 2 Subunit/*genetics
DNA/metabolism
Gene Rearrangement
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/*genetics
Male
Middle Aged
Oncogene Proteins, Fusion/*genetics
Reverse Transcriptase Polymerase Chain Reaction
Translocation, Genetic
Core Binding Factor Alpha 2 Subunit
DNA
Oncogene Proteins, Fusion

Reference

1. De Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Basinko A, De Braekeleer M. ETV6 fusion genes in hematological malignancies: a review. Leuk Res. 2012; 36:945–961. PMID: 22578774.

2. Malinge S, Monni R, Bernard O, Penard-Lacronique V. Activation of the NF-kappaB pathway by the leukemogenic TEL-Jak2 and TEL-Abl fusion proteins leads to the accumulation of antiapoptotic IAP proteins and involves IKKalpha. Oncogene. 2006; 25:3589–3597. PMID: 16434962.

3. Park J, Kim M, Lim J, Kim Y, Han K, Kim JS, et al. Variant of ETV6/ABL1 gene is associated with leukemia phenotype. Acta Haematol. 2013; 129:78–82. PMID: 23171811.

4. Million RP, Harakawa N, Roumiantsev S, Varticovski L, Van Etten RA. A direct binding site for Grb2 contributes to transformation and leukemogenesis by the Tel-Abl (ETV6-Abl) tyrosine kinase. Mol Cell Biol. 2004; 24:4685–4695. PMID: 15143164.

5. Gancheva K, Virchis A, Howard-Reeves J, Cross NC, Brazma D, Grace C, et al. Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review. Mol Cytogenet. 2013; 6:39. PMID: 24053143.

6. Song JS, Shin SY, Lee ST, Kim HJ, Kim SH. A cryptic ETV6/ABL1 rearrangement represents a unique fluorescence in situ hybridization signal pattern in a patient with B acute lymphoblastic leukemia. Ann Lab Med. 2014; 34:475–477. PMID: 25368826.

7. Keung YK, Beaty M, Steward W, Jackle B, Pettnati M. Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature. Cancer Genet Cytogenet. 2002; 138:139–142. PMID: 12505259.

8. De Braekeleer E, Douet-Guilbert N, Rowe D, Bown N, Morel F, Berthou C, et al. ABL1 fusion genes in hematological malignancies: a review. Eur J Haematol. 2011; 86:361–371. PMID: 21435002.

9. La Starza R, Trubia M, Testoni N, Ottaviani E, Belloni E, Crescenzi B, et al. Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia. Haematologica. 2002; 87:789–794. PMID: 12161353.

10. Perna F, Abdel-Wahab O, Levine RL, Jhanwar SC, Imada K, Nimer SD. ETV6-ABL1-positive "chronic myeloid leukemia": clinical and molecular response to tyrosine kinase inhibition. Haematologica. 2011; 96:342–343. PMID: 21193423.