Molecular and Cytogenetic Characterization of a Novel Translocation t(4;22) Involving the Breakpoint Cluster Region and Platelet-Derived Growth Factor Receptor-Alpha Genes in a Patient with Atypical Chronic Myeloid Leukemia

Genes Chromosomes and Cancer

Volumn 40, Issue 1, 2004, Pages 44-50

  Safley, Anne Michele ^a   Sebastian, Siby ^b   Collins, Timothy S ^b   Tirado, Carlos A ^b   Stenzel, Timothy T ^c   Gong, Jerald Z ^b   Goodman, Barbara K ^b  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c ABBOTT LABORATORIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; BCR ABL PROTEIN; COMPLEMENTARY DNA; CYCLOPHOSPHAMIDE; DOXORUBICIN; IMATINIB; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PREDNISONE; VINCRISTINE;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME TRANSLOCATION; CHRONIC LEUKEMIA; CHRONIC MYELOID LEUKEMIA; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; MALE; MYELOPROLIFERATIVE DISORDER; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 4; CYTOGENETIC ANALYSIS; HUMANS; LEUKEMIA, MYELOID, CHRONIC; MALE; MIDDLE AGED; MYELOPROLIFERATIVE DISORDERS; ONCOGENE PROTEINS, FUSION; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-BCR; READING FRAMES; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; TRANSLOCATION, GENETIC;

EID: 1942453753     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/gcc.20014     Document Type: Article

References (32)

1. Aguiar RT. 1997. Therapy-related chronic myeloid leukemia: An epidemiological, clinical and pathogenic appraisal. Leuk Lymph 29:17-26.
2. Andre C, Martin E, Cornu F, Hu W-X, Wang X-P, Galiber F. 1992. Genomic organization of the human c-kit gene: evolution of the receptor tyrosine kinase subclass III. Oncogene 7:685-691.
3. Apperley JF, Gardembas M, Melo JV, Russell-Jones R Bain BJ, Baxter EJ, Chase A, Chessells JM, Colombat M, Dearden CE, Dimitrijevic S, Mahon, F-X, Marin D, Nikolova Z, Olavarria E, Silberman S, Schultheis B, Cross NCP, Goldman JM. 2002. Response to imatinib mesylate inpatients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. N Engl J Med 347:481-486.
4. Baxter EJ, Hochhaus A, Bolufer P, Fernandez JM, Senent L, Cervera J, Moscaro F, Sanz MA, Cross NCP. 2002. The t(4; 22)(q12;q11) in atypical chronic myeloid leukemia fuses BCR to PDGFRA. Hum Mol Genet 11:1391-1397.
5. Bolanos-Meade J, Sarkodee-Adoo C, Khanwani SL. 2002. CML after treatment for lymphoid malignancy. Am J Hematol 71:139.
6. Buchdunger E, Cioffi CL, Law N, Stover D, Ohno-Jones S, Druker B J, Lydon NB. 2000. Abl protein-tyrosine kinase inhibitor STI571 inhibits in vitro signal transduction mediated by c-Kit and platelet-derived growth factor receptors. J Pharmacol Exp Ther 295:139-145.
7. Carroll M, Sayuri O-J, Tamura S, Buchdunger E, Zimmerman J, Lydon NB, Gilliand DG, Druker BJ. 1997. CGP 57148, A tyrosine kinase inhibitor, inhibits the growth of cells expressing BCR-ABL, TEL-ABL, and Tel-PDGFR fusion proteins. Blood 90: 4947-4952.
8. Chan PM, Subbaraj I, Rose JL, Chakrabartty A, Rottapel R. 2003. Autoinhibition of the KIT receptor tyrosine kinase by the cytosolic juxtamembrane region. Mol Cell Biol 23:3067-3078.
9. Chissoe SL, Bodenteich A, Wang Y-F, Wang Y-P, Burian D, Clifton SW, Crabtree J, Freeman A, Iyer K, Jian L, Ma Y, McLaury H-J, Pan H-Q, Sarhan OH, Toth S, Wang Q, Zhang G, Heisterkamp N, Groffen J, Roe BA. 1995. Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. Genomics 27:67-82.
10. Claesson-Welsh L, Hammacher A, Westermark B, Heldin C-H, Nister M. 1989. Identification and structural analysis of the A type receptor for platelet-derived growth factor: Similarities with the B type receptor. J Biol Chem 264:1742-1747.
11. Cools J, DeAngelo DJ, Gotlib, J, Stover EH, Legare RD, Cortes J, Kutok J, Clark J, Galinsky I, Griffin JD, Cross NCP, Tefferu A, Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P, Verhoefr G, Boogaerts M, Wloddarska I, Kantarjian H, Marynen P, Coutre SE, Stone R, Gilliland DG. 2003. A tyrosine kinase created by fusion of the PDGFRA and FIPIL1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 348:1201-1214.
12. Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, Doody M-L, Carnicer F, Reiter A, Goldman JM, Melo JV, Cross NCP.2001. The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. Blood 98:3778-3783.
13. Druker BJ. 2003. Commentary: Overcoming resistance to imatinib by combining targeted agents. Mol Cancer Therap 2:225-226.
14. Dunkern TR, Wedemeyer I, Baumgartner M, Gritz G, Kaina B. 2003. Resistance of p53 knockout cells to doxorubicin is related to reduced formation of DNA strand breaks rather than impaired apoptotic signaling. DNA Repair 2:49-60.
15. Golub TR, Barker GF, Lovett M, Gilliland DG. 1994. Fusion of PDGF receptor β to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 77:307-316.
16. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen C-J, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CDM, Fletcher JA. 2003. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299:708-710.
17. Irusta PM, Luo Y, Bakht O, Char-Chang L, Smith SO, DiMaio D. 2002. Definition of an inhibitory juxtamembrane WW-like domain in the platelet-derived growth factor B receptor. J Biol Chem 277:38627-38634.
18. ISCN 1995. An international system for human cytogenetic nomenclature. Mitelman F, editor. Basel, Switzerland: S. Karger.
19. Kawagishi J, Kumabe T, Yoshimoto T, Yamamoto T. 1995. Structure, organization, and transription of the human α-platelet-derived growth factor receptor gene, PDGFRA. Genomics 30:224-232.
20. Lokker NA, O'Hare JP, Barsoumian A, Tomlinson JE, Ramarkrishnan V, Fretto LJ, Giese NA. 1997. Functional importance of platelet-derived growth factor (PDGF) receptor extracellular immunoglobulin-like domains. J Biol Chem 272:3037-33044.
21. O'Brien SG, Guilhot F, Larson RA, Gathmann I, Baccarani M, Cervantes F, Cornelissen JJ, Fischer T, Hochhaus A, Hughes T, Lechner K, Nielsen JL, Rousselot P, Reiffers J, Saglio G, Shepherd J, Simonsson B, Gratwohl A, Goldman JM, Kantarjian H, Taylor K, Verhoef G, Bolton AE, Capdeville R, Druker BJ. IRIS Investigators. 2003. Imatinib compared with interferon and low-dose cytarabine for newly diagnosed chronic-phase chronic myeloid leukemia. N Engl J Med 348:994-1004.
22. Pane F, Intrieri M, Quintarelli C, Izzo B, Muccioli GC, Salvatore F. 2002. BCR/ABL genes and leukemic phenotype: from molecular mechanisms to clinical correlations. Oncogene 21:3652-3667.
23. Pardanani A, Ketterling RP, Brockman SR, Flynn HC, Paternoster SF, Shearer BM, Reeder TL, Li C-Y, Cross NCP, Cools J, Gilliland DG, Dewald GW, Tefferi A. 2003. CHIC2 deletion, a surrogate for FIPL1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Blood 102:3093-3096.
24. Reddy KS, Sulcova V. 2000. A FISH study of variant Philadelphia rearrangements. Cancer Genet Cytogenet 118:121-131.
25. Salesse S, Verfaillie CM. 2002. BCR/ABL: from molecular mechanisms of leukemia induction to treatment of chronic myelogenous leukemia. Oncogene 21:8547-8559.
26. Sawyers CL, Hochhaus A, Feldman E, Goldman JM, Miller CB, Ottmann OG, Schiffer CA, Talpaz M, Guilhot F, Deininger MW, Fischer T, O'Brien SG, Stone RM, Gambacorti-Passerini CB, Russell NH, Reiffers JJ, Shea TC, Chapuis B, Coutre S, Tura S, Morra E, Larson RA, Saven A, Peschel C, Gratwohl A, Mandelli F, Ben-Am M, Gathmann I, Capdeville R, Paquette RL, Druker BJ. 2002. Imatinib induces hematologic and cytogenetic responses in patients with chronic myelogenous leukemia in myeloid blast crisis: results of a phase II study. Blood 99:3530-3539.
27. Spitzner JR, Muller MT. 1988. A consensus sequence for cleavage by vertebrate DNA topoisomerase II. Nucleic Acids Res 16:5533-5556.
28. Steer JE, Cross NCP. 2002. Myeloproliferative disorders with translocation of chromosome 5q31-35: role of the platelet-derived growth factor receptor beta. Acta Haematol (Basel) 107:113-122.
29. Thijsen S, Schuurhuis G, van Oostveen J, Ossenkoppele G. 1999. Chronic myeloid leukemia from basics to bedside. Leukemia 13:1646-1674.
30. Trempat P, Villalva C, Laurent G, Armstrong F, Delsol G, Dastugue N, Brousset P. 2003. Chronic myeloproliferative disorders with rearrangement of the platelet-derived growth factor alpha receptor: a new clinical target for STI571/Glivec. Oncogene 22:5702-5706.
31. Vardiman JW, Pierre R, Thiele J, Imbert M, Brunning, RD, Flandrin, G. 2002. Chronic myelogenous leukaemia. In: Jaffe, ES, Harris, NL, Stein, H, Vardiman, JW, editors. World Health Organization classification of tumours of the haematopoetic and lymphoid tissues. Lyon, France: IARC Press. p 20-26.
32. Yeh HJ, Silos-Santiago I, Wang YX, George RJ, Snider WD, Deuel TF. 1993. Developmental expression of the platelet-derived growth factor alpha receptor gene in mammalian central nervous system. Proc Nat Acad Sci USA 90:1952-1956.