Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms

Genes Chromosomes and Cancer

Volumn 53, Issue 5, 2014, Pages 411-421

  Gosenca, Darko ^a   Kellert, Beate ^a   Metzgeroth, Georgia ^a   Haferlach, Claudia ^b   Fabarius, Alice ^a   Schwaab, Juliana ^a   Kneba, Michael ^c   Scheid, Christof ^d   Töpelt, Karin ^d   Erben, Philipp ^a   Haferlach, Torsten ^b   Cross, Nicholas C P ^e,f   Hofmann, Wolf Karsten ^a   Seifarth, Wolfgang ^a   Reiter, Andreas ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^f WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTARABINE; DAUNORUBICIN; HYDROXYUREA; IMATINIB; TIOGUANINE;

ADULT; ARTICLE; CANCER GROWTH; CANCER REGRESSION; CASE REPORT; CELL PROLIFERATION; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; EOSINOPHILIA; EOSINOPHILIC LEUKEMIA; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE AMPLIFICATION; GENE IDENTIFICATION; HUMAN; IMMUNOHISTOCHEMISTRY; INDUCTION CHEMOTHERAPY; LEUKOCYTOSIS; MALE; MOLECULAR CLONING; MYELOPROLIFERATIVE NEOPLASM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLENOMEGALY;

ADULT; AMINO ACID SEQUENCE; ANTINEOPLASTIC AGENTS; BENZAMIDES; CHROMOSOMES, HUMAN, PAIR 5; CHRONIC DISEASE; DNA-BINDING PROTEINS; EOSINOPHILIA; GENE FUSION; HUMANS; LEUKEMIA; MALE; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MYELOPROLIFERATIVE DISORDERS; PIPERAZINES; PYRIMIDINES; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR BETA; REMISSION INDUCTION; TRANSLOCATION, GENETIC;

EID: 84895923163     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22153     Document Type: Article

References (36)

1. Aguiar RCT, Chase A, Coulthard S, Macdonald DHC, Carapeti M, Reiter A, Sohal J, Lennard A, Goldman JM, Cross NCP. 1997. Abnormalities of chromosome band 8p11 in leukemia: Two clinical syndromes can be distinguished on the basis of MOZ involvement. Blood 90:3130-3135.
2. Akasaka T, Lossos IS, Levy R. 2003. BCL6 gene translocation in follicular lymphoma: A harbinger of eventual transformation to diffuse aggressive lymphoma. Blood 102:1443-1448.
3. Bochtler T, Kirsch M, Maier B, Bachmann J, Klingmuller U, Anderhub S, Ho AD, Kramer A. 2012. Centrosomal targeting of tyrosine kinase activity does not enhance oncogenicity in chronic myeloproliferative disorders. Leukemia 26:728-735.
4. Chen J, Wall NR, Kocher K, Duclos N, Fabbro D, Neuberg D, Griffin JD, Shi Y, Gilliland DG. 2004. Stable expression of small interfering RNA sensitizes TEL-PDGFβR to inhibition with imatinib or rapamycin. J Clin Invest 113:1784-1791.
5. Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, Kutok J, Clark J, Galinsky I, Griffin JD, Cross NCP, Tefferi A, Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P, Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P, Coutre SE, Stone R, Gilliland DG. 2003. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 348:1201-1214.
6. Cross NCP, Reiter A. 2008. Fibroblast growth factor receptor and platelet-derived growth factor receptor abnormalities in eosinophilic myeloproliferative disorders. Acta Haematol 119:199-206.
7. Curtin JC, Lorenzi MV. 2010. Drug discovery approaches to target Wnt signaling in cancer stem cells. Oncotarget 1:552-566.
8. Curtis CE, Grand FH, Waghorn K, Sahoo TP, George J, Cross NCP. 2007. A novel ETV6-PDGFRB fusion transcript missed by standard screening in a patient with an imatinib responsive chronic myeloproliferative disease. Leukemia 21:1839-1841.
9. Delaval B, Lelievre H, Birnbaum D. 2005. Myeloproliferative disorders: The centrosome connection. Leukemia 19:1739-1744.
10. Diessenbacher P, Hupe M, Sprick MR, Kerstan A, Geserick P, Haas TL, Wachter T, Neumann M, Walczak H, Silke J, Leverkus M. 2008. NF-κB inhibition reveals differential mechanisms of TNF versus TRAIL-induced apoptosis upstream or at the level of caspase-8 activation independent of cIAP2. J Invest Dermatol 128:1134-1147.
11. Elling C, Erben P, Walz C, Frickenhaus M, Schemionek M, Stehling M, Serve H, Cross NCP, Hochhaus A, Hofmann WK, Berdel WE, Müller-Tidow C, Reiter A, Koschmieder S. 2011. Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease. Blood 117:2935-2943.
12. Enomoto A, Ping J, Takahashi M. 2006. Girdin, a novel actin-binding protein, and its family of proteins possess versatile functions in the Akt and Wnt signaling pathways. Ann NY Acad Sci 1086:169-184.
13. Erben P, Gosenca D, Müller MC, Reinhard J, Score J, del Valle F, Walz C, Mix J, Metzgeroth G, Ernst T, Haferlach C, Cross NCP, Hochhaus A, Reiter A. 2010. Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis. Haematologica 95:738-744.
14. Growney JD, Clark JJ, Adelsperger J, Stone R, Fabbro D, Griffin JD, Gilliland DG. 2005. Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. Blood 106:721-724.
15. Jones AV, Cross NCP. 2004. Oncogenic protein tyrosine kinases. Cell Mol Life Sci 61:2912-2923.
16. Jovanovic JV, Score J, Waghorn K, Cilloni D, Gottardi E, Metzgeroth G, Erben P, Popp H, Walz C, Hochhaus A, Roche-Lestienne C, Preudhomme C, Solomon E, Apperley J, Rondoni M, Ottaviani E, Martinelli G, Brito-Babapulle F, Saglio G, Hehlmann R, Cross NCP, Reiter A, Grimwade D. 2007. Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia. Blood 109:4635-4640.
17. La Starza R, Rosati R, Roti G, Gorello P, Bardi A, Crescenzi B, Pierini V, Calabrese O, Baens M, Folens C, Cools J, Marynen P, Martelli MF, Mecucci C, Cuneo A. 2007. A new NDE1//PDGFRB fusion transcript underlying chronic myelomonocytic leukaemia in Noonan Syndrome. Leukemia 21:830-833.
18. Lee JC, Hapel AJ, Ihle JN. 1982. Constitutive production of a unique lymphokine (IL 3) by the WEHI-3 cell line. J Immunol 128:2393-2398.
19. Levine RL, Wadleigh M, Sternberg DW, Wlodarska I, Galinsky I, Stone RM, DeAngelo DJ, Gilliland DG, Cools J. 2005. KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32). Leukemia 19:27-30.
20. Logan CY, Nusse R. 2004. The WNT signaling pathway in development and disease. Annu Rev Cell Dev Bi 20:781-810.
21. Medves S, Duhoux FP, Ferrant A, Toffalini F, Ameye G, Libouton JM, Poirel HA, Demoulin JB. 2010. KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia. Leukemia 24:1052-1055.
22. Meng X, Chen J, Yang Q, Wang S, Chao Y, Ying K, Xie Y, Mao Y. 2002. Cloning and identification of a novel cDNA which may be associated with FKBP25. Biochem Genet 40:303-310.
23. Montano-Almendras CP, Essaghir A, Schoemans H, Varis I, Noël LA, Velghe AI, Latinne D, Knoops L, Demoulin JB. 2012. ETV6-PDGFRB and FIP1L1-PDGFRA stimulate human hematopoietic progenitor cell proliferation and differentiation into eosinophils: The role of nuclear factor-κB. Haematologica 97:1064-1072.
24. Mosman T. 1983. Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays. J Immunol Methods 65:55-63.
25. Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O. 2000. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 7:143-150.
26. Reiter A, Walz C, Cross NCP. 2007. Tyrosine kinases as therapeutic targets in BCR-ABL negative chronic myeloproliferative disorders. Curr Drug Targets 8:205-216.
27. Shaffer L, Slovak M, Campbell L. 2009. ISCN 2009. An International System for Human Cytogenetic Nomenclature. Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger.
28. Sternberg DW, Tomasson MH, Carroll M, Curley DP, Barker G, Caprio M, Wilbanks A, Kazlauskas A, Gilliland DG. 2001. The TEL/PDGFβR fusion in chronic myelomonocytic leukemia signals through STAT5-dependent and STAT5-independent pathways. Blood 98:3390-3397.
29. Takebe N, Harris PJ, Warren RQ, Ivy SP. 2011. Targeting cancer stem cells by inhibiting Wnt, Notch, and Hedgehog pathways. Nat Rev Clin Oncol 8:97-106.
30. Tefferi A. 2010. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 24:1128-1138.
31. Uhlen M, Oksvold P, Fagerberg L, Lundberg E, Jonasson K, Forsberg M, Zwahlen M, Kampf C, Wester K, Hober S, Wernerus H, Bjorling L, Ponten F. 2010. Towards a knowledge-based human protein atlas. Nat Biotechnol 28:1248-1250.
32. Walz C, Metzgeroth G, Haferlach C, Schmitt-Graeff A, Fabarius A, Hagen V, Prümmer O, Rauh S, Hehlmann R, Hochhaus A, Cross NCP, Reiter A. 2007. Characterization of three new imatinib-responsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor β gene. Haematologica 92:163-169.
33. Walz C, Haferlach C, Hänel A, Metzgeroth G, Erben P, Gosenca D, Hochhaus A, Cross NCP, Reiter A. 2009. Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2). Genes Chromosomes Cancer 48:179-183.
34. Wheadon H, Welham MJ. 2003. The coupling of TEL/PDGFβR to distinct functional responses is modulated by the presence of cytokine: Involvement of mitogen-activated protein kinases. Blood 102:1480-1489.
35. Willis TG, Jadayel DM, Coignet LJA, Abdul-Rauf M, Treleaven JG, Catovsky D, Dyer MJS. 1997. Rapid molecular cloning of rearrangements of the IGHJ locus using long-distance inverse polymerase chain reaction. Blood 90:2456-2464.
36. Ymer S, Tucker W, Sanderson C, Hapel A, Campbell H, Young I. 1985. Constitutive synthesis of interleukin-3 by leukemia cell line WEHI-3B is due to retroviral insertion near the gene. Nature 317:255-258.