Acute promyelocytic leukemia a review and discussion of variant translocations

Archives of Pathology and Laboratory Medicine

Volumn 139, Issue 10, 2015, Pages 1308-1313

  Adams, Julia ^a   Nassiri, Mehdi ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; KRUPPEL LIKE FACTOR; ONCOPROTEIN; RETINOIC ACID RECEPTOR; RETINOIC ACID RECEPTOR ALPHA; STAT5 PROTEIN; STAT5B PROTEIN, HUMAN; ZBTB16 PROTEIN, HUMAN;

DIFFERENTIAL DIAGNOSIS; DRUG RESISTANCE; GENE TRANSLOCATION; GENETICS; HUMAN; LEUKEMIA, PROMYELOCYTIC, ACUTE;

ANTINEOPLASTIC AGENTS; DIAGNOSIS, DIFFERENTIAL; DRUG RESISTANCE, NEOPLASM; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; LEUKEMIA, PROMYELOCYTIC, ACUTE; ONCOGENE PROTEINS, FUSION; RECEPTORS, RETINOIC ACID; STAT5 TRANSCRIPTION FACTOR; TRANSLOCATION, GENETIC;

EID: 84942883955     PISSN: 00039985     EISSN: 15432165     Source Type: Journal    
DOI: 10.5858/arpa.2013-0345-RS     Document Type: Review

References (30)

1. Grimwade D, Biondi A, Mozziconacci MJ, et al; Groupe Français de Cytogénétique Hématologique, Groupe de Français d'Hematologie Cellulaire, UK Cancer Cytogenetics Group and BIOMED 1 European Community-Concerted Action ''Molecular Cytogenetic Diagnosis in Haematological Malignancies. '' Characterization of acute promyelocytic leukemia cases lacking the classic t(15; 17): results of the European Working Party. Blood. 2000; 96(4): 1297-1308.
2. Shen ZX, Shi ZZ, Fang J, et al. All-trans retinoic acid/As2O3 combination yields a high quality remission and survival in newly diagnosed acute promyelocytic leukemia. Proc Natl Acad Sci U S A. 2004; 101(15): 5328-5335.
3. Redner RL. Variations on a theme: The alternate translocations in APL. Leukemia. 2002; 16(10): 1927-1932.
4. de Thé H, Lavau C, Marchio A, Chomienne C, Degos L, Dejean A. The PML-RARa fusion mRNA generated by the t(15; 17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR. Cell. 1991; 66(4): 675-684.
5. Kakizuka A, Miller WH Jr, Umesono K, et al. Chromosomal translocation t(15; 17) in human acute promyelocytic leukemia fuses RARa with a novel putative transcription factor, PML. Cell. 1991; 66(4): 663-674.
6. Wang ZY, Chen Z. Acute promyelocytic leukemia: from highly fatal to highly curable. Blood. 2008; 111(5): 2505-2515.
7. Yamamoto Y, Tsuzuki S, Tsuzuki M, Handa K, Inaguma Y, Emi N. BCOR as a novel fusion partner of retinoic acid receptor alpha in a t(X; 17)(p11; q12) variant of acute promyelocytic leukemia. Blood. 2010; 116(20): 4274-4283.
8. Kondo T, Mori A, Darmanin S, Hashino S, Tanaka J, Asaka M. The seventh pathogenic fusion gene FIP1L1-RARA was isolated from a t(4; 17)-positive acute promyelocytic leukemia. Haematologica. 2008; 93(9): 1414-1416.
9. Corey SJ, Locker J, Oliveri DR, et al. A non-classical translocation involving 17q12 (retinoic acid receptor alpha) in acute promyelocytic leukemia (APML) with atypical features. Leukemia. 1994; 8(8): 1350-1353.
10. Sainty D, Liso V, Cantu-Rajnoldi A, et al; Group Francais de Cytogenetique Hematologique, UK Cancer Cytogenetics Group and BIOMED 1 European Community-Concerted Action ''Molecular Cytogenetic Diagnosis in Haematological Malignancies. '' A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements. Blood. 2000; 96(4): 1287-1296.
11. Barbui T, Finazzi G, Falanga A. The impact of all-trans-retinoic acid on the coagulopathy of acute promyelocytic leukemia. Blood. 1998; 91(9): 3093-3102.
12. Bennett JM, Catovsky D, Daniel MT, et al; French-American-British (FAB) Co-operative Group. Proposals for the classification of the acute leukaemias. Br J Haematol. 1976; 33(4): 451-458.
13. Yamanouchi J, Hato T, Niiya T, et al. A new four-way variant t(5; 17; 15; 20)(q33; q12; q22; q11. 2) in acute promyelocytic leukemia. Int J Hematol. 2011; 94(4): 395-388.
14. Catalano A, Dawson MA, Somana K et al. The PRKAR1A gene is fused to RARA in a new variant acute promyelocytic leukemia. Blood. 2007; 110(12): 4073-4076.
15. Chen Z, Guidez F, Rousselot P, et al. PLZF-RAR alpha fusion proteins generated from the variant t(11; 17)(q23; q21) translocation in acute promyelocytic leukemia inhibit ligand-dependent transactivation of wild-type retinoic acid receptors. Proc Natl Acad Sci U S A. 1994; 91(3): 1178-1182.
16. Chen Z, Brand NJ, Chen A, et al. Fusion between a novel Krüppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11; 17) translocation associated with acute promyelocytic leukaemia. EMBO J. 1993; 12(3): 1161-1167.
17. Redner RL, Rush EA, Faas S, Rudert WA, Corey SJ. The t(5; 17) variant of acute promyelocytic leukemia expresses a nucleophosmin-retinoic acid receptor fusion. Blood. 1996; 87(3): 882-886.
18. Wells RA, Catzavelos C, Kamel-Reid S. Fusion of retinoic acid receptor a to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia [letter]. Nat Genet. 1997; 17(1): 109-113.
19. Arnould C, Philippe C, Bourdon V, Gr goire MJ, Berger R, Jonveaux P. The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor a in acute promyelocytic-like leukaemia. Hum Mol Genet. 1999; 8(9): 1741-1749.
20. Licht JD, Chomienne C, Goy A, et al. Clinical and molecular characterization of a rare syndrome of acute promyelocytic leukemia associated with translocation (11; 17). Blood. 1995; 85(4): 1083-1094.
21. Kim MJ, Cho SY, Kim MH, et al. FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: A case study and review of the literature. Cancer Genet Cytogenet. 2010; 203(2): 278-283.
22. Bennour A, Tabka I, Yosra BY, et al. A PML/RARA chimeric gene on chromosome 12 in a patient with acute promyelocytic leukemia (M3) associated with a new varient translocation: T(12; 15; 17)q24; q24; q11). Med Oncol. 2013; 30(1): 409-413.
23. Brockman SR, Paternoster SF, Ketterling RP, Dewald GW. New highly sensitive fluorescence in situ hybridization method to detect PML/RARA fusion in acute promyelocytic leukemia. Cancer Genet Cytogenet. 2003; 145(2): 144-151.
24. Welch JS, Westervelt P, Ding L, et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA. 2011; 305(15): 1577-1584.
25. Guidez F, Ivins S, Zhu J, Soderstrom M, Waxman S, Zelent A. Reduced retinoic acid-sensitivities of nuclear receptor corepressor binding to PML-and PLZF-RARa underlie molecular pathogenesis and treatment of acute promyelocytic leukemia. Blood. 1998; 91(8): 2634-2642.
26. Chen Y, Gu L, Zhou C, et al. Relapsed APL patient with variant NPM-RARa fusion responded to arsenic trioxide-based therapy and achieved long-term survival. Int J Hematol. 2010; 91(4): 708-710.
27. Qiu HR, Li JY, Miao KR, Wang R, Zhang JF, Xu W. A case of acute promyelocytic leukemia with variant t(5; 17) and trisomy 22 [in Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008(20); 25: 430-433.
28. Nasr R, Guillemin MC, Ferhi O, et al. Eradication of acute promyelocytic leukemia-initiating cells through PML-RARA degradation. Nat Med. 2008; 14(12): 1333-1342.
29. Jeanne M, Lallemand-Breitenbach V, Ferhi O, et al. PML/RARA oxidation and arsenic binding initiate the antileukemia response of As2O3. Cancer Cell. 2010; 18(1): 88-98.
30. Sanz MA, Lo-Coco F. Modern approaches to treating acute promyelocytic leukemia. J Clin Oncol. 2011; 29(5): 495-503.