Rare CBFB-MYH11 fusion transcripts in AML with inv(16)/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: A study on 162 patients

Leukemia

Volumn 21, Issue 4, 2007, Pages 725-731

  Schnittger, S ^a   Bacher, U ^b   Haferlach, C ^a   Kern, W ^a   Haferlach, T ^a  

^a MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALKYLATING AGENT; ANTHRACYCLINE; CD2 ANTIGEN; CD33 ANTIGEN; CORE BINDING FACTOR; GENE PRODUCT; GYRASE INHIBITOR; MICROSOMAL AMINOPEPTIDASE; PROTEIN MYH11; THY 1 ANTIGEN; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ARTICLE; BREAST CANCER; CANCER SURGERY; CHROMOSOME 16; CHROMOSOME 21; CHROMOSOME 22; CHROMOSOME 8; CHROMOSOME ABERRATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CORRELATION ANALYSIS; CYTOGENETICS; CYTOPATHOLOGY; DISEASE CLASSIFICATION; EOSINOPHIL; EWING SARCOMA; FEMALE; FUSION GENE; GENETIC TRANSCRIPTION; HODGKIN DISEASE; HUMAN; HUMAN CELL; IMMUNOPHENOTYPING; LEUKOCYTE COUNT; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; MELANOMA; NONHODGKIN LYMPHOMA; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; PROGNOSIS; TESTIS CANCER; THYROID CANCER; UTERUS CANCER;

EID: 33947364435     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2404531     Document Type: Article

References (43)

1. Claxton DF, Liu P, Hsu HB, Marlton P, Hester J, Collins F et al. Detection of fusion transcripts generated by the inversion 16 chromosome in acute myelogenous leukemia. Blood 1994; 83: 1750-1756.
2. Liu PP, Wijmenga C, Hajra A, Blake TB, Kelley CA, Adelstein RS et al. Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells. Genes Chromosomes Cancer 1996; 16: 77-87.
3. Liu PP, Hajra A, Wijmenga C, Collins FS. Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia. Blood 1995; 85: 2289-2302.
4. Haferlach T, Winkemann M, Loffler H, Schoch R, Gassmann W, Fonatsch C et al. The abnormal eosinophils are part of the leukemic cell population in acute myelomonocytic leukemia with abnormal eosinophils (AML M4Eo) and carry the pericentric inversion 16: A combination of May-Grunwald-Giemsa staining and fluorescence in situ hybridization. Blood 1996; 87: 2459-2463.
5. Jaffe ES, Harris NL, Stein H, Vardiman JWe. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. IARC Press: Lyon, 2001; pp: 81-87.
6. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol 1976; 33: 451-458.
7. Mrozek K, Heinonen K, Bloomfield CD. Clinical importance of cytogenetics in acute myeloid leukaemia. Best Pract Res Clin Haematol 2001; 14: 19-47.
8. Grimwade D, Walker H, Harrison G, Oliver F, Chatters S, Harrison CJ et al. The predictive value of hierarchical cytogenetic classification in older adults with acute myeloid leukemia (AML): Analysis of 1065 patients entered into the United Kingdom Medical Research Council AML11 trial. Blood 2001; 98: 1312-1320.
9. Schoch C, Kern W, Kohlmann A, Hiddemann W, Schnittger S, Haferlach T. Acute myeloid leukemia with a complex aberrant karyotype is a distinct biological entity characterized by genomic imbalances and a specific gene expression profile. Genes Chromosomes Cancer 2005; 43: 227-238.
10. van der Reijden BA, Lombardo M, Dauwerse HG, Giles RH, Muhlematter D, Bellomo MJ et al. RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts. Blood 1995; 86: 277-282.
11. Van der Reijden BA, de Wit L, van der Poel S, Luiten EB, Lafage-Pochitaloff M, Dastugue N et al. Identification of a novel CBFB-MYH11 transcript: Implications for RT-PCR diagnosis. Hematol J 2001; 2: 206-209.
12. Van Dongen JJ, Macintyre EA, Gabert JA, Delabesse E, Rossi V, Saglio G et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: Investigation of minimal residual disease in acute leukemia. Leukemia 1999; 13: 1901-1928.
13. Martinelli G, Ottaviani E, Buonamici S, Isidori A, Malagola M, Piccaluga P et al. Two more inv(16) acute myeloid leukemia cases with infrequent CBFbeta-MYH11 fusion transcript: Clinical and molecular findings. Haematologica 2002; 87: 554-555.
14. Ravandi F, Kadkol SS, Ridgeway J, Bruno A, Dodge C, Lindgren V. Molecular identification of CBFbeta-MYH11 fusion transcripts in an AML M4Eo patient in the absence of inv16 or other abnormality by cytogenetic and FISH analyses - a rare occurrence. Leukemia 2003; 17: 1907-1910.
15. Dissing M, Le Beau MM, Pedersen-Bjergaard J. Inversion of chromosome 16 and uncommon rearrangements of the CBFB and MYH11 genes in therapy-related acute myeloid leukemia: Rare events related to DNA-topoisomerase II inhibitors? J Clin Oncol 1998; 16: 1890-1896.
16. Quesnel B, Kantarjian H, Bjergaard JP, Brault P, Estey E, Lai JL et al. Therapy-related acute myeloid leukemia with t(8;21), inv(16), and t(8;16): A report on 25 cases and review of the literature. J Clin Oncol 1993; 11: 2370-2379.
17. Andersen MK, Larson RA, Mauritzson N, Schnittger S, Jhanwar SC, Pedersen-Bjergaard J. Balanced chromosome abnormalities inv(16) and t(15;17) in therapy-related myelodysplastic syndromes and acute leukemia: Report from an international workshop. Genes Chromosomes Cancer 2002; 33: 395-400.
18. Rowley JD, Olney HJ. International workshop on the relationship of prior therapy to balanced chromosome aberrations in therapy-related myelodysplastic syndromes and acute leukemia: Overview report. Genes Chromosomes Cancer 2002; 33: 331-345.
19. Schoch C, Kern W, Schnittger S, Hiddemann W, Haferlach T. Karyotype is an independent prognostic parameter in therapy-related acute myeloid leukemia (t-AML): An analysis of 93 patients with t-AML in comparison to 1091 patients with de novo AML. Leukemia 2004; 18: 120-125.
20. Kern W, Haferlach T, Schnittger S, Hiddemann W, Schoch C. Prognosis in therapy-related acute myeloid leukemia and impact of karyotype. J Clin Oncol 2004; 22: 2510-2511.
21. Haferlach T, Schoch C, Loffler H, Gassmann W, Kern W, Schnittger S et al. Morphologic dysplasia in de novo acute myeloid leukemia (AML) is related to unfavorable cytogenetics but has no independent prognostic relevance under the conditions of intensive induction therapy: Results of a multiparameter analysis from the German AML Cooperative Group studies. J Clin Oncol 2003; 21: 256-265.
22. Schoch C, Schnittger S, Bursch S, Gerstner D, Hochhaus A, Berger U et al. Comparison of chromosome banding analysis, interphase- and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: A study on 350 cases. Leukemia 2002; 16: 53-59.
23. Schnittger S, Schoch C, Dugas M, Kern W, Staib P, Wuchter C et al. Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: Correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood 2002; 100: 59-66.
24. Schnittger S, Weisser M, Schoch C, Hiddemann W, Haferlach T, Kern W. New score predicting for prognosis in PML-RARA+, AML1-ETO+, or CBFBMYH11+ acute myeloid leukemia based on quantification of fusion transcripts. Blood 2003; 102: 2746-2755.
25. Kern W, Voskova D, Schoch C, Schnittger S, Hiddemann W, Haferlach T. Prognostic impact of early response to induction therapy as assessed by multiparameter flow cytometry in acute myeloid leukemia. Haematologica 2004; 89: 528-540.
26. Buechner T, Berdel WE, Schoch C, Haferlach T, Serve HL, Schnittger S et al. Treatment of AML in biological subgroups. Hematology 2005; 10 (Suppl 1): 281-285.
27. Evans PA, Short MA, Jack AS, Norfolk DR, Child JA, Shiach CR et al. Detection and quantitation of the CBFbeta/MYH11 transcripts associated with the inv(16) in presentation and follow-up samples from patients with AML. Leukemia 1997; 11: 364-369.
28. Kern W, Voskova D, Schoch C, Hiddemann W, Schnittger S, Haferlach T. Determination of relapse risk based on assessment of minimal residual disease during complete remission by multiparameter flow cytometry in unselected patients with acute myeloid leukemia. Blood 2004; 104: 3078-3085.
29. Paietta E, Wiernik PH, Andersen J, Bennett J, Yunis J. Acute myeloid leukemia M4 with inv(16) (p13q22) exhibits a specific immunophenotype with CD2 expression. Blood 1993; 82: 2595.
30. Adriaansen HJ, te Boekhorst PA, Hagemeijer AM, van der Schoot CE, Delwel HR, van Dongen JJ. Acute myeloid leukemia M4 with bone marrow eosinophilia (M4Eo) and inv(16)(p13q22) exhibits a specific immunophenotype with CD2 expression. Blood 1993; 81: 3043-3051.
31. Larson RA, Williams SF, Le Beau MM, Bitter MA, Vardiman JW, Rowley JD. Acute myelomonocytic leukemia with abnormal eosinophils and inv(16) or t(16;16) has a favorable prognosis. Blood 1986; 68: 1242-1249.
32. Schlenk RF, Benner A, Krauter J, Buchner T, Sauerland C, Ehninger G et al. Individual patient data-based meta-analysis of patients aged 16 to 60 years with core binding factor acute myeloid leukemia: A survey of the German Acute Myeloid Leukemia Intergroup. J Clin Oncol 2004; 22: 3741-3750.
33. Martin G, Barragan E, Bolufer P, Chillon C, Garcia-Sanz R, Gomez T et al. Relevance of presenting white blood cell count and kinetics of molecular remission in the prognosis of acute myeloid leukemia with CBFbeta/MYH11 rearrangement. Haematologica 2000; 85: 699-703.
34. Lester WA, Hull DR, Fegan CD, Morris TC. Respiratory failure during induction chemotherapy for acute myelomonocytic leukaemia (FAB M4Eo) with ara-C and all-trans retinoic acid. Br J Haematol 2000; 109: 847-850.
35. Bloomfield CD, Archer KJ, Mrozek K, Lillington DM, Kaneko Y, Head DR et al. 11q23 Balanced chromosome aberrations in treatment-related myelodysplastic syndromes and acute leukemia: Report from an international workshop. Genes Chromosomes Cancer 2002; 33: 362-378.
36. Strissel PL, Strick R, Rowley JD, Zeleznik-Le NJ. An in vivo topoisomerase II cleavage site and a DNase I hypersensitive site colocalize near exon 9 in the MLL breakpoint cluster region. Blood 1998; 92: 3793-3803.
37. Aplan PD, Chervinsky DS, Stanulla M, Burhans WC. Site-specific DNA cleavage within the MLL breakpoint cluster region induced by topoisomerase II inhibitors. Blood 1996; 87: 2649-2658.
38. Broeker PL, Super HG, Thirman MJ, Pomykala H, Yonebayashi Y, Tanabe S et al. Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: Correlation with scaffold attachment regions and topoisomerase II consensus binding sites. Blood 1996; 87: 1912-1922.
39. Cimino G, Rapanotti MC, Biondi A, Elia L, Lo Coco F, Price C et al. Infant acute leukemias show the same biased distribution of ALL1 gene breaks as topoisomerase II related secondary acute leukemias. Cancer Res 1997; 57: 2879-2883.
40. Stanulla M, Wang J, Chervinsky DS, Aplan PD. Topoisomerase II inhibitors induce DNA double-strand breaks at a specific site within the AML1 locus. Leukemia 1997; 11: 490-496.
41. Andersen MK, Christiansen DH, Jensen BA, Ernst P, Hauge G, Pedersen-Bjergaard J. Therapy-related acute lymphoblastic leukaemia with MLL rearrangements following DNA topoisomerase II inhibitors, an increasing problem: Report on two new cases and review of the literature since 1992. Br J Haematol 2001; 114: 539-543.
42. van der Reijden BA, Dauwerse HG, Giles RH, Jagmohan-Changur S, Wijmenga C, Liu PP et al. Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered. Oncogene 1999; 18: 543-550.
43. Delaunay J, Vey N, Leblanc T, Fenaux P, Rigal-Huguet F, Witz F et al. Prognosis of inv(16)/t(16;16) acute myeloid leukemia (AML): A survey of 110 cases from the French AML Intergroup. Blood 2003; 102: 462-469.