Acute promyelocytic leukemia: A novel PML/RARα fusion that generates a frameshift in the RARα transcript and ATRA resistance

Leukemia and Lymphoma

Volumn 48, Issue 3, 2007, Pages 489-496

  Zayed, Adham ^a   Couban, Stephen ^a   Hayne, Ormille ^a   Sparavalo, Nebojsa ^a   Shawwa, Allam ^a   Sadek, Irene ^a   Greer, Wenda ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

Author keywords

APL; t(15; 17); Variant fusion

Indexed keywords

COMPLEMENTARY DNA; CYTARABINE; IDARUBICIN; MESSENGER RNA; RETINOIC ACID; RETINOIC ACID RECEPTOR ALPHA;

ADULT; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION 17; CLINICAL FEATURE; CONTINUOUS INFUSION; DRUG MEGADOSE; EPISTAXIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE FUSION; GENE SEQUENCE; GINGIVA BLEEDING; HUMAN; INTRON; MAINTENANCE THERAPY; ONCOGENE; PRIORITY JOURNAL; PROMYELOCYTIC LEUKEMIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BRUISING; TRANSCRIPTION REGULATION;

ANTINEOPLASTIC AGENTS; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 17; CYTARABINE; DRUG RESISTANCE, NEOPLASM; FEMALE; FRAMESHIFT MUTATION; HUMANS; IMMUNOSUPPRESSIVE AGENTS; LEUKEMIA, PROMYELOCYTIC, ACUTE; MIDDLE AGED; ONCOGENE PROTEINS, FUSION; RECEPTORS, RETINOIC ACID; TRANSLOCATION, GENETIC; TRETINOIN;

EID: 33947688680     PISSN: 10428194     EISSN: 10292403     Source Type: Journal    
DOI: 10.1080/10428190601136163     Document Type: Article

References (20)

1. Warrell Jr, R. P., de The, H., Wang, Z. Y. and Degos, L. (1993) Acute promyelocytic leukemia. N Eng J Med, 329, pp. 177-189.
2. Melick, A. and Licht, J. D. (1999) Deconstructing a disease: RAR alpha, its fusion partners and their roles in the pathogenesis of acute promyelocytic leukemia. Blood, 93, pp. 3167-3215.
3. He, L. Z., Tribioli, C., Rivi, R., Peruzzi, D., Pelicci, P. G. and Soares, V. (1997) Acute leukemia with promyelocytic features in PML/RAR alpha transgenic mice. Proc Natl Acad Sci USA, 94, pp. 5302-5307.
4. Bhaumik, M.,Tribioli, C., Rego, E. M., Ivins, S. and Zelent, A. (2000) Two critical hits for promyelocytic leukemia. Mol Cell, 6, pp. 1131-1141.
5. Fukutani, H., Naoe, T., Yoshida, H., Yamamori, S. and Ohno, R. (1993) Molecular heterogeneity of the PML gene rearrangement in acute promyelocytic leukemia: Prevalence and clinical significance. Jpn J Cancer Res, 84, pp. 257-264.
6. Huang, W., Sun, G. L., Li, X. S., Cao, Q. and Jang, G. S. (1993) Acute promyelocytic leukemia: Clinical relevance of two major PML-RARα isoforms and detection of minimal residual disease by retrotranscriptase/ polymerase chain reaction to predict relapse. Blood, 82, pp. 1264-1269.
7. Pandolfi, P. P., Alcalay, M., Faqioli, M., Zangrill, D., Mencarelli, A. and Diverio, D. (1992) Geomic variability and alternative splicing generate multiple AML/RARα transcripts that encode aberrant PML proteins and PML/RARα isoforms in acute promyelocytic leukemia. EMBO J, 11, pp. 1397-1407.
8. Pandolfi, P. P. (2001) Oncogenes and tumor suppressors in the molecular pathogenesis of acute promyelocytic leukemia. Hum Mol Gen, 10, pp. 769-775.
9. Dyck, J. A., Maul, G. G., Miller Jr, W. H., Chen, J. D., Kakizuka, A. and Evans, R. M. (1994) A noel macromolecular structure is a target of the promyelocyte-retinoic acid receptor oncoprotein. Cell, 76, pp. 333-343.
10. Zimonjic, D. B., Pollock, J. L., Westervelt, P., Popescu, N. C. and Ley, T. J. (2000) Acquired nonrandom chromosomal abnormalities associated with the development of acute promyelocytic leukemia in transgenic mice. Proc Natl Acad Sci USA, 97, pp. 13306-13311.
11. Wang, Z. G., Ruggero, D., Ronchetti, S., Zhong, S., Gaboli, M. and Rivi, R. (1998) PML is essential for multiple apoptotic pathways. Nat Genet, 20, pp. 266-272.
12. Lai, H. K. and Borden, K. L. (2000) The promyelocytic leukemia (PML) protein suppresses cyclin D1 protein production by altering the nuclear cytoplasmic distribution of cyclin D1 mRNA. Oncogene, 19, pp. 1623-1634.
13. Wang, Z. G., Delva, L., Gaboli, M., Rivi, R., Giorgio, M. and Cordon-Cardo, C. (1998) Role of PML in cell growth and the retinoic acid pathway. Science, 279, pp. 1547-1551.
14. Seabright, M. A. (1971) A rapid banding technique for human chromosomes. Lancet, pp. 971-972.
15. Chillón, M. C., Gonzalez, M., Garcia-Sanz, R., Balanzategui, A., Gonzalez, D. and Lopez-Perez, R. (2000) Two new 3′ PML breakpoints in t(15;17) (q22;21q)-positive acute promyelocytic leukemia. Genes Chromosomes Cancer, 27, pp. 35-43.
16. Robertson, K. A., Emami, B. and Collins, J. (1992) Retinoic acid-resistant HL-60R cells harbour a point mutation in the retinoic acid receptor ligand-binding domain that confers dominant negative activity. Blood, 80, pp. 1885-1889.
17. Strudwick, S. and Borden, K LB (2002) Finding a role for PML in APL pathogenesis: A critical assessment of potential PML activities. Leukemia, 16, pp. 1906-1917.
18. Lufkin, T., Lohnes, D., Mark, M., Dierich, A., Gorvy, P. and Gaub, M. P. (1993) High postnatal lethality and tests degeneration in retinoic receptor alpha mutant mice. Proc Natl Acad Sci USA, 90, pp. 7225-7229.
19. Kuwata, T., Wang, I. M., Tamura, T., Ponnamperuma, R. M., Levine, R. and Holmes, K. L. (2000) Vitamin A deficiency in mice causes a systemic expansion of myeloid cells. Blood, 95, pp. 3349-3356.
20. Liu, T. X., Zhang, J. W., Tao, J., Zhang, R. B., Zhang, Q. H. and Zhao, C. J. (2000) Gene expression networks underlying retinoic acid-induced differentiation acute promyelocytic leukemia cells. Blood, 96, pp. 1496-1504.