Chronic myelogenous leukemia with the e6a2 bcr-abl and lacking imatinib response: Presentation of two cases

Acta Haematologica

Volumn 122, Issue 1, 2009, Pages 11-16

  Vefring, Hege K ^a   Gruber, Franz X E ^b   Wee, Line ^a   Hovland, Randi ^c   Hjorth Hansen, Henrik ^d   Gedde Dahl, Tobias ^e   Meyer, Peter ^a  

^a STAVANGER UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF TROMSØ   (Norway)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^d TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^e OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

BCR ABL; Chronic myelogenous leukemia; Imatinib; Multiplex RT PCR

Indexed keywords

ANTINEOPLASTIC AGENT; AZITHROMYCIN; BCR ABL PROTEIN; BREAKPOINT CLUSTER REGION PROTEIN; BUSULFAN; CHLORODEOXYADENOSINE; CIMETIDINE; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; DASATINIB; FLUDARABINE; IMATINIB; MELPHALAN; PREDNISOLONE; UNCLASSIFIED DRUG;

ADULT; ALLOGENEIC STEM CELL TRANSPLANTATION; ARTICLE; BRONCHIOLITIS; CANCER GROWTH; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CHRONIC MYELOID LEUKEMIA; FLUORESCENCE IN SITU HYBRIDIZATION; GRAFT VERSUS HOST REACTION; HUMAN; MALE; MYELOABLATIVE CONDITIONING; PHILADELPHIA CHROMOSOME NEGATIVE CELL; PHILADELPHIA CHROMOSOME POSITIVE CELL; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TREATMENT FAILURE; TREATMENT OUTCOME; TREATMENT RESPONSE;

ADULT; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 9; DRUG RESISTANCE, NEOPLASM; FUSION PROTEINS, BCR-ABL; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; MALE; MIDDLE AGED; PIPERAZINES; PYRIMIDINES;

EID: 67651205144     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000230037     Document Type: Article

References (23)

1. Martinelli G, Soverini S, Rosti G, Cilloni D, Baccarani M: New tyrosine kinase inhibitors in chronic myeloid leukemia. Haematologica 2005; 90: 534-541. (Pubitemid 40592897)
2. Melo JV: The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood 1996; 88: 2375-2384.
3. Heisterkamp N, Stam K, Groffen J, de Klein A, Grosveld G: Structural organization of the bcr gene and its role in the Ph- translocation. Nature 1985; 315: 758-761.
4. Schultheis B, Wang L, Clark RE, Melo JV: BCR-ABL with an e6a2 fusion in a CML patient diagnosed in blast crisis. Leukemia 2003; 17: 2054-2055.
5. Schnittger S, Bacher U, Kern W, Haferlach T, Hertenstein B, Haferlach C: A new case with rare e6a2 BCR-ABL fusion transcript developing two new resistance mutations during imatinib mesylate, which were replaced by T315I after subsequent dasatinib treatment. Leukemia 2008; 22: 856-858.
6. Roti G, La Starza R, Gorello P, Gottardi E, Crescenzi B, Martelli MF, Mecucci C: e6a2 BCR/ABL1 fusion with cryptic der(9)t(9; 22) deletions in a patient with chronic myeloid leukemia. Haematologica 2005; 90: 1139-1141.
7. Popovici C, Cailleres S, David M, Lafage-Pochitaloff M, Sainty D, Mozziconacci MJ: e6a2 BCR-ABL fusion with BCR exon 5-deleted transcript in a Philadelphia positive CML responsive to imatinib. Leuk Lymphoma 2005; 46: 1375-1377.
8. Hochhaus A, Reiter A, Skladny H, Melo JV, Sick C, Berger U, Guo JQ, Arlinghaus RB, Hehlmann R, Goldman JM, Cross NC: A novel BCR-ABL fusion gene (e6a2) in a patient with Philadelphia chromosome-negative chronic myelogenous leukemia. Blood 1996; 88: 2236-2240.
9. Hayette S, Tigaud I, Thomas X, French M, Perrin MC, Nicolini F, Michallet M, Magaud JP: Identification of a rare e6a2 BCR-ABL fusion gene during the disease progression of chronic myelomonocytic leukemia: a case report. Leukemia 2004; 18: 1735-1736.
10. Dupont M, Jourdan E, Chiesa J: Identification of E6A2 BCR-ABL fusion in a Philadelphia- positive CML. Leukemia 2000; 14: 2011-2012.
11. Demehri S, Paschka P, Schultheis B, Lange T, Koizumi T, Sugimoto T, Branford S, Lim LC, Kegel T, Martinelli G, Hochhaus A, Druker BJ, Deininger MW: e8a2 BCR-ABL: more frequent than other atypical BCR-ABL variants? Leukemia 2005; 19: 681-684.
12. Colla S, Sammarelli G, Voltolini S, Crugnola M, Sebastio P, Giuliani N: e6a2 BCR-ABL transcript in chronic myeloid leukemia: is it associated with aggressive disease? Haematologica 2004; 89: 611-613.
13. Breccia M, Cannella L, Diverio D, Streponi P, Nanni M, Stefanizzi C, Natalino F, Mecarocci S, Alimena G: Isolated thrombocytosis as first sign of chronic myeloid leukemia with e6a2 BCR/ABL fusion transcript, JAK2 negativity and complete response to imatinib. Leuk Res 2008; 32: 177-180.
14. Torres F, Ivanova-Dragoeva A, Pereira M, Veiga J, Rodrigues AS, Sousa AB, Tavares P, Fernandes AR: An e6a2 BCR-ABL fusion transcript in a CML patient having an iliac chloroma at initial presentation. Leuk Lymphoma 2007; 48: 1034-1037.
15. Beillard E, Pallisgaard N, van der Velden VH, Bi W, Dee R, van der Schoot E, Delabesse E, Macintyre E, Gottardi E, Saglio G, Watzinger F, Lion T, van Dongen JJ, Hokland P, Gabert J: Evaluation of candidate control genes for diagnosis and residual disease detection in leukemic patients using 'real-time' quantitative reverse-transcriptase polymerase chain reaction (RQ-PCR) - a Europe against Cancer Program. Leukemia 2003; 17: 2474-2486.
16. Corm S, Renneville A, Rad-Quesnel E, Grardel N, Preudhomme C, Quesnel B: Successful treatment of imatinib-resistant acute megakaryoblastic leukemia with e6a2 BCR/ ABL: use of dasatinib and reduced-conditioning stem-cell transplantation. Leukemia 2007; 21: 2376-2377.
17. Cross NC, Melo JV, Feng L, Goldman JM: An optimized multiplex polymerase chain reaction (PCR) for detection of BCR-ABL fusion mRNAs in haematological disorders. Leukemia 1994; 8: 186-189.
18. Druker BJ, Guilhot F, O'Brien SG, Gathmann I, Kantarjian H, Gattermann N, Deininger MW, Silver RT, Goldman JM, Stone RM, Cervantes F, Hochhaus A, Powell BL, Gabrilove JL, Rousselot P, Reiffers J, Cornelissen JJ, Hughes T, Agis H, Fischer T, Verhoef G, Shepherd J, Saglio G, Gratwohl A, Nielsen JL, Radich JP, Simonsson B, Taylor K, Baccarani M, So C, Letvak L, Larson RA: Five-year follow-up of patients receiving imatinib for chronic myeloid leukemia. N Engl J Med 2006; 355: 2408-2417. (Pubitemid 44903745)
19. Gabert J, Beillard E, van der Velden VH, Bi W, Grimwade D, Pallisgaard N, Barbany G, Cazzaniga G, Cayuela JM, Cave H, Pane F, Aerts JL, De Micheli D, Thirion X, Pradel V, Gonzalez M, Viehmann S, Malec M, Saglio G, van Dongen JJ: Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - a Europe against Cancer Program. Leukemia 2003; 17: 2318-2357. (Pubitemid 38072573)
20. Grégoire MJ, Latger-Cannard V, Staal A, Bologna S, Leotard B, Rault JP, Bery-Dexheimer M, Jonveaux P: Identification of an acute basophilic leukaemia carrying a rare e6a2 BCR-ABL transcript. Acta Haematol 2006; 116: 216-218.
21. Hochhaus A, Kreil S, Corbin AS, La Rosee P, Muller MC, Lahaye T, Hanfstein B, Schoch C, Cross NC, Berger U, Gschaidmeier H, Druker BJ, Hehlmann R: Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. Leukemia 2002; 16: 2190-2196.
22. Quentmeier H, Cools J, Macleod RA, Marynen P, Uphoff CC, Drexler HG: e6-a2 BCR-ABL1 fusion in T-cell acute lymphoblastic leukemia. Leukemia 2005; 19: 295-296. (Pubitemid 40220599)
23. Staal-Viliare A, Latger-Cannard V, Rault JP, Didion J, Gregoire MJ, Bologna S, Witz B, Jonveaux P, Lecompte T, Rio Y: A case of de novo acute basophilic leukaemia: diagnostic criteria and review of the literature (in French). Ann Biol Clin (Paris) 2006; 64: 361-365.