Mutations in the E-domain of RARα portion of the PML/RARα chimeric gene may confer clinical resistance to all-trans retinoic acid in acute promyelocytic leukemia

Blood

Volumn 92, Issue 2, 1998, Pages 374-382

  Imaizumi, Masue ^a   Suzuki, Hoshiro ^b   Yoshinari, Miyako ^c   Sato, Atsushi ^d   Saito, Toshiaki ^e   Sugawara, Akira ^e   Tsuchiya, Shigeru ^b   Hatae, Yoshiro ^a   Fujimoto, Takeo ^b   Kakizuka, Akira ^d   Konno, Tasuke ^a   Linuma, Kazuie ^c  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY   (Japan)

^c HOKKAIDO CANCER CENTER   (Japan)

^d AICHI MEDICAL UNIVERSITY   (Japan)

^e OSAKA BIOSCIENCE INSTITUTE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOIC ACID; RETINOIC ACID RECEPTOR;

ACUTE MYELOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0032528520     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.2.374     Document Type: Article

References (49)

1. Mangelsdorf D, Ong E, Dyck J, Evans R: Nuclear receptor that identifies a novel retinoic acid response pathway. Nature 345:224, 1990
2. de The H, Chomienne C, Lanotte M, Degos L, Dejean A: The t(15;17) translocation of acute promyelocytic leukemia fuses the retinoic acid receptor a gene to a novel transcribed locus. Nature 347:558, 1990
3. Grignani F, Fagioli M, Alcalay M, Longo L, Pandolfi P, Donti E, Biondi A, Coco F, Grignani F, Pelicci P: Acute promyelocytic leukemia: From genetics to treatment. Blood 83:10, 1994
4. Kakizuka A, Miller WJ, Umesono K, Warrell RJ, Frankel S, Murty V, Dmitrovsky E, Evans R: Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RARα with a novel putative transcription factor, PML. Cell 66:663, 1991
5. de The H, Lavau C, Marchio A, Chomienne C, Degos L, Dejean A: The PML-RARα fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR. Cell 66:675, 1991
6. Grignani F, Ferrucci P, Testa U, Talamo G, Fagioli M, Alcalay M, Mencarelli A, Grignani F, Pesche C, Nicoletti I, Pelicci P: The acute promyelocytic leukemia-specific PML-RARα fusion protein inhibits differentiation and promotes survival of myeloid precursor cells. Cell 74:423, 1993
7. Grignani F, Testa U, Fagioli M, Barben T, Masciulli R, Marinari G, Peschle C, Pelicci P: Promyelocytic leukemia-specific PML-retinoic acid a receptor fusion protein interferes with erythroid differentiation of human erythroleukemia K562 cells. Cancer Res 55:440, 1995
8. Diverio D, Coco F, D'Adamo F, Biondi A, Fagioli M, Grignani F, Rambaldi A, Rossi V, Avvisati G, Petti M, Testi A, Liso V, Specchia G, Fioritoni G, Recchia A, Frassoni F, Ciolli S, Pelicci P: Identification of DNA rearrangements at the retinoic acid receptor-oc (RAR-α) locus in all patients with acute promyelocytic leukemia (APL) and mapping of APL breakpoints within the RAR-α second intron. Blood 79:3331, 1992
9. Evans R: The steroid and thyroid hormone receptor superfamily. Science 240:889, 1988
10. Mangelsdorf D, Evans R: The RXR heterodimers and orphan receptors. Cell 83:841, 1995
11. Raelson J, Nervi C, Rosenauer A, Benedetti L, Monczak Y, Peason M, Pelicci P, Miller W Jr: The PML/RARα oncoprotein is a direct molecular target of retinoic acid in acute promyelocytic leukemia cells. Blood 88:2826, 1996
12. Benedetti L, Levin A, Scicchitano B, Grinani F, Allenby G, Diverio D, Coco F, Avvisati G, Ruthardt M, Adamo S, Pelicci P, Nervi C: Characterization of the retinoid binding properties of the major fusion products present in acute promyelocytic leukemia. Blood 90:1175, 1997
13. Breitman T, Selonick S, Collins S: Induction of differentiation of the human promyelocytic leukemia cell line (HL-60) by retinoic acid. Proc Natl Acad Sei USA 77:2936, 1980
14. Imaizumi M, Breitman TR: Retinoic acid-induced differentiation of the human promyelocytic leukemia cell line, HL-60, and fresh human leukemia cells in primary culture: A model for differentiation inducing therapy of leukemia. EurJHaematol 38:289, 1987
15. Huang M, Ye Y-C, Chen S-R, Chai J-R, Lu J-X, Zhoa L, Gui L-J, Wang Z-Y: Use of all-trans retinoic acid in the treatment of acute promyelocytic leukemia. Blood 72:567, 1988
16. Castaigne S, Chomienne C, Daniel M, Ballerini P, Berger R, Fenaux P, Degos L: All-rra/tr retinoic acid as a differentiation therapy for acute promyelocytic leukemia. I. Clinical results. Blood 76:1704, 1990
17. Warrell RJ, Frankel S, Miller WJ, Scheinberg D, Itri L, Hittelman W, Vyas R, Andreeff M, Tafuri A, Jakubowski A, Gabrilove J, Gordon M, Dmitrovsky E: Differentiation therapy of acute promyelocytic leukemia with tretinoin (all-trans retinoic acid). N Engl J Med 324:1385, 1991
18. Vahdat L, Maslak P, Miller WJ, Eardley A, Heller G, Scheinberg D, Warrell RJ: Early mortality and the retinoic acid syndrome in acute promyelocytic leukemia: Impact of leukocytosis, low-dose chemotherapy, PML/RAR-α isoform, and CD 13 expression in patients treated with all-trans retinoic acid. Blood 84:3843, 1994
19. Chen Z, Xue Y, Zhang R, Tao R, Xia X, Li C, Wang W, Zu W, Yao X, Ling B: A clinical and experimental study on all-trans retinoic acid-treated acute promyelocytic leukemia patients. Blood 78:1413, 1991
20. Warrell RJ: Retinoid resistance in acute promyelocytic leukemia: New mechanisms, strategies, and implications. Blood 82:1949, 1993
21. Cornic M, Chomienne C: Induction of retinoid resistance by all-trans retinoic acid in acute promyelocytic leukemia after remission. LeukLymphoma 18:249, 1995
22. Early E, Dmitrovsky E: Acute promyelocytic leukemia: Retinoic acid response and resistance. J Invest Med 43:337, 1995
23. Lefebvre P, Thomas G, Gourmel B, Agadir A, Castaigne S, Dreux C, Degos L, Chomienne C: Pharmacokinetics of oral all-lra;wretinoic acid in patients with acute promyelocytic leukemia. Leukemia 5:1054, 1991
24. Duell E, Astrom A, Griffiths C, Chambon P, Voorhees J: Human skin levels of retinoic acid and cytochrome P-450-derived 4-hydroxyretinoic acid after topical application of retinoic acid in vivo compared to concentrations required to stimulate retinoic acid receptor-mediated transcription in vitro. J Clin Invest 90:1269, 1992
25. Muindi J, Frankel S, Miller WJ, Jakubowski A, Scheinberg D, Young C, Dmitrovsky E, Warrell RJ: Continuous treatment with a-trans retinoic acid causes a progressive reduction in plasma drug concentrations: Implications for relapse and retinoid "resistance" in patients with acute promyelocytic leukemia. Blood 79:299, 1992
26. Kizaki M, Ueno H, Matsushita H, Takayama N, Muto A, Awaya N, Ikeda Y: Retinoid resistance in leukemia cells. Leuk Lymphoma 25:427, 1997
27. Delva L, Comic M, Balitrand N, Guidez F, Miclea J, Delmer A, Teillet F, Fenaux P, Castaigne S, Degos L, Chomienne C: Resistance to all-rrans retinoic acid (ATRA) therapy in relapsing acute promyelocytic leukemia: Study of in vitro sensitivity and cellular retinoid binding protein levels in leukemic cells. Blood 82:2175, 1993
28. Kizaki M, Ueno H, Yamazoe Y, Shimada M, Takayama N, Muto A, Matsushita H, Nakajima H, Morikawa M, Koeffler P, Ikeda Y: Mechanisms of retinoid resistance in leukemia cells: Possible role of cytochrome p450 and P-glycoprotein. Blood 87:725, 1996
29. Robertson K, Emami B, Collins S: Retinoic acid-resistant HL-60R cells harbor a point mutation in the retinoic acid receptor ligand-binding domain that confers dominant negative activity. Blood 80:1885, 1992
30. Li Y-P, Said F, Gallagher R: Retinoic acid-resistant HL-60 cells exclusively contain mutant retinoic acid receptor-a. Blood 83:3298, 1994
31. Dore B, Momparler R: Mutation in the ligand-binding domain of the retinoic acid receptor alpha in HL-60 leukemic cells resistant to retinoic acid and with increased sensitivity to vitamin D3 analogs. Leuk Res 20:761, 1996
32. Shao W, Benedetti L, Lamph W, Nervi C, Miller W Jr: A retinoid-resistant acute promyelocytic leukemia subclone expresses a dominant negative PML-RARα mutation. Blood 89:4282, 1997
33. Imaizumi M, Suzuki H, Yoshinari M, Sato A, Saito T, linuma K: All-trans retinoic acid reactivity and prognosis of acute promyelocytic leukemia with long or short forms of PML/RARα chimeric transcripts. Exp Hematol 24:1126, 1996 (abstr)
34. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156, 1987
35. Saiki R, Gelfand D, Stoffel S, Scharf S, Higuchi R, Horn G, Mullis K, Erlich H: Primer-directed enzymatic amplification of DMA with a thermostable DNA polymerase. Science 239:487, 1988
36. Orita M, Suzuki Y, Sekiya T, Hayashi K: Rapid and sensitive detection of point mutation and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874, 1989
37. Kikawa E, Nakazawa M, Chida Y, Shîono T, Tamai M: A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. Genomics 20:137, 1994
38. Sanger F, Nicklen S, Coulson A: DNA sequencing with chainterminating inhibitors. Proc Natl Acad Sei USA 74:5463, 1977
39. Sugawara A, Yen P, Chin W: 9-cis retinoic acid regulation of rat growth hormone gene expression: Potential roles of multiple nuclear hormone receptors. Endocrinology 135:1956, 1994
40. Barettino D, Bugge T, Bartunek P, Vivanco Ruiz M, SonntagBuck V, Beug H, Zenke M, Stunnernberg H: Unliganded T3R, but not its oncogenic variant, v-erbA, suppresses RAR-dependent transactivation by titrating out RXR. EMBO J 12:1343, 1993
41. Sambrook J, Fritsch E, Maniatis T: Molecular cloning: A Laboratory Manual (ed 2). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989
42. Sugawara A, Sanno N, Takahashi N, Osamura R, Abe K: Retinoid X receptors in the kidney: Their protein expression and functional significance. Endocrinology 138:3175, 1997
43. Takitani K, Tamai H, Morinobu T, Kawamura N, Miyaké M, Fujimoto T, Mino M: Pharmcokinetics of all-trans retinoic acid in patients with leukemia. Jpn J Cancer Res 86:400, 1995
44. Laudet V, Hanni C, Coll J, Catzeflis F, Stehelin D: Evolution of the nuclear receptor gene superfamily. EMBO J 11:1003, 1992
45. Gianni M, Calzi M, Terao M, Guiso G, Caccia S, Barbui T, Rambaldi A, Garattini E: AM580, a stable benzonic derivative of retinoic acid, has powerful and selective cyto-differentiating effects on acute promyelocytic leukemia cells. Blood 87:1520, 1996
46. Kopp P, Kitajima K, Jameson J: Syndrome of resistance to thyroid hormone: Insights into thyroid hormone action. Proc Soc Exp BiolMed211:49, 1996
47. Adams M, Matthews C, Collingwood T, Tone Y, Beck-Peccoz P, Chatterjee K: Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest 94:506, 1994
48. Renaud J, Rochel N, Ruff M, Vivat V, Chambon P, Gronemeyer H, Moras D: Crystal structure of the RAR-γ ligand-binding domain bound to all-trans retinoic acid. Nature 378:681, 1995
49. Lamour F, Lardelli P, Apfel C: Analysis of the ligand-binding domain of human retinoic acid receptor α by site-directed mutagenesis. Mol CelBiol 16:5386, 1996