DHH-RHEBL1 fusion transcript: A novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia

Oncotarget

Volumn 4, Issue 10, 2013, Pages 1712-1720

  Masetti, Riccardo ^a   Togni, Marco ^a   Astolfi, Annalisa ^a   Pigazzi, Martina ^b   Manara, Elena ^b   Indio, Valentina ^a   Rizzari, Carmelo ^c   Rutella, Sergio ^d   Basso, Giuseppe ^b   Pession, Andrea ^a   Locatelli, Franco ^d,e  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c SAN GERARDO HOSPITAL   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY OF PAVIA   (Italy)

Author keywords

CBFA2T3 GLIS2 fusion transcript; Cytogenetically normal acute myeloid leukemia; DHH RHEBL1 fusion transcript; Pediatric acute myeloid leukemia; Whole transcriptome massively parallel sequencing

Indexed keywords

CBFA2T3 GLIS2 FUSION PROTEIN; DESERT HEDGEHOG RAS HOMOLOG ENRICH IN BRAIN LIKE 1 FUSION PROTEIN; HYBRID PROTEIN; TRANSCRIPTOME; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; CANCER SURVIVAL; CARCINOGENESIS; CBFA2T3 GLIS2 GENE; DESERT HEDGEHOG RAS HOMOLOG ENRICH IN BRAIN LIKE 1 GENE; FUSION GENE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENOME ANALYSIS; HUMAN; MALIGNANT TRANSFORMATION; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; OUTCOME ASSESSMENT; OVERALL SURVIVAL; PREDICTION; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCREENING TEST; SEQUENCE ANALYSIS; SURVIVAL RATE; SURVIVAL TIME;

BASE SEQUENCE; GENE EXPRESSION PROFILING; HEDGEHOG PROTEINS; HUMANS; LEUKEMIA, MYELOID, ACUTE; MOLECULAR SEQUENCE DATA; ONCOGENE PROTEINS, FUSION; RAS PROTEINS; RNA, MESSENGER; SURVIVAL ANALYSIS; TRANSCRIPTOME; TUMOR MARKERS, BIOLOGICAL;

EID: 84886741350     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.1280     Document Type: Article

References (48)

1. Rubnitz JE, Inaba H. Childhood acute myeloid leukaemia. Br J Haematol. 2012; 159(3):259-76.
2. Pui CH, Carroll WL, Meshinchi S, Arceci RJ. Biology, risk stratification, and therapy of pediatric acute leukemias: an update. J Clin Oncol. 2011; 29(5):551-65.
3. Ho PA, Alonzo TA, Gerbing RB, Pollard J, Stirewalt DL, Hurwitz C, Heerema NA, Hirsch B, Raimondi SC, Lange B, Franklin JL, Radich JP, Meshinchi S. Prevalence and prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia (AML): a report from the Children's Oncology Group. Blood. 2009; 113(26):6558-66.
4. Cazzaniga G, Dell'Oro MG, Mecucci C, Giarin E, Masetti R, Rossi V, Locatelli F, Martelli MF, Basso G, Pession A, Biondi A, Falini B. Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype. Blood. 2005; 106(4):1419-22.
5. Meshinchi S, Woods WG, Stirewalt DL, Sweetser DA, Buckley JD, Tjoa TK, Bernstein ID, Radich JP. Prevalence and prognostic significance of Flt3 internal tandem duplication in pediatric acute myeloid leukemia. Blood. 2001; 97(1):89-94.
6. Staffas A, Kanduri M, Hovland R, Rosenquist R, Ommen HB, Abrahamsson J, Forestier E, Jahnukainen K, Jónsson ÓG, Zeller B, Palle J, Lönnerholm G, Hasle H, Palmqvist L, Ehrencrona H. Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia. Blood. 2011; 118(22):5905-13.
7. Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K, Koboldt DC, Fulton RS, Delehaunty KD, McGrath SD, Fulton LA, Locke DP, Magrini VJ, Abbott RM, Vickery TL, Reed JS, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med; 361(11):1058-66.
8. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE, Kandoth C, Payton JE, Baty J, Welch J, Harris CC, Lichti CF, Townsend RR, Fulton RS, Dooling DJ, Koboldt DC, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010; 363(25):2424-33.
9. Andersson AK, Miller DW, Lynch JA, Lemoff AS, Cai Z, Pounds SB, Radtke I, Yan B, Schuetz JD, Rubnitz JE, Ribeiro RC, Raimondi SC, Zhang J, Mullighan CG, Shurtleff SA, Schulman BA, et al. IDH1 and IDH2 mutations in pediatric acute leukemia. Leukemia. 2011; 25(10):1570-7.
10. Pigazzi M, Ferrari G, Masetti R, Falini B, Martinolli F, Basso G, Biondi A, Pession A, Cazzaniga G. Low prevalence of IDH1 gene mutation in childhood AML in Italy. Leukemia. 2011; 25(1):173-4.
11. Paganin M, Pigazzi M, Bresolin S, Masetti R, Fagioli F, Chiaretti S, Cazzaniga G, Locatelli F, Pession A, te Kronnie G, Basso G. DNA methyltransferase 3a hot-spot locus is not mutated in pediatric patients affected by acute myeloid or T-cell acute lymphoblastic leukemia: an Italian study. Haematologica. 2011; 96(12):1886-7.
12. Masetti R, Pigazzi M, Togni M, Astolfi A, Indio V, Manara E, Casadio R, Pession A, Basso G, Locatelli F. CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype. Blood. 2013; 121(17):3469-72.
13. Gruber TA, Larson Gedman A, Zhang J, Koss CS, Marada S, Ta HQ, Chen SC, Su X, Ogden SK, Dang J, Wu G, Gupta V, Andersson AK, Pounds S, Shi L, Easton J, et al. An Inv(16)(p13.3q24.3)-Encoded CBFA2T3-GLIS2 Fusion Protein Defines an Aggressive Subtype of Pediatric Acute Megakaryoblastic Leukemia Cancer Cell. 2012;22(5):683-97.
14. Crispino JD, Le Beau MM. BMP meets AML: induction of BMP signaling by a novel fusion gene promotes pediatric acute leukemia. Cancer Cell. 2012; 22(5):567-8.
15. Maher CA, Kumar-Sinha C, Cao X, Kalyana-Sundaram S, Han B, Jing X, Sam L, Barrette T, Palanisamy N, Chinnaiyan AM. Transcriptome sequencing to detect gene fusions in cancer. Nature. 2009; 458(7234):97-101.
16. Ingham PW, McMahon AP. Hedgehog signaling in animal development: paradigms and principles. Genes Dev. 2001; 15(23):3059-87.
17. Yuan J, Shan Y, Chen X, Tang W, Luo K, Ni J, Wan B, Yu L. Identification and characterization of RHEBL1, a novel member of Ras family, which activates transcriptional activities of NF-kappa B. Mol Biol Rep. 2005; 32(4):205-14.
18. Mitelman F, Johansson B, Mertens F. Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer. Nat Genet. 2004; 36(4):331-4.
19. Graf M, Hecht K, Reif S, Pelka-Fleischer R, Pfister K, Schmetzer H. Expression and prognostic value of hemopoietic cytokine receptors in acute myeloid leukemia (AML): Implications for future therapeutical strategies. Eur J Haematol 2004; 72(2):89-106.
20. Quentmeier H, Tonelli R, Geffers R, Pession A, Uphoff CC, Drexler HG. Expression of BEX1 in acute myeloid leukemia with MLL rearrangements. Leukemia 2005; 19(8):1488-9.
21. Carraway KL, Perez A, Idris N, Jepson S, Arango M, Komatsu M, Haq B, Price-Schiavi SA, Zhang J, Carraway CA. Prog Nucleic Acid Res Mol Biol. 2002;71:149-85.
22. Emaduddin M, Edelmann MJ, Kessler BM, Feller SM. Odin (ANKS1A) is a Src family kinase target in colorectal cancer cells. Cell Commun Signal. 2008; 9:6:7.
23. Thiollier C, Lopez CK, Gerby B, Ignacimouttou C, Poglio S, Duffourd Y, Guégan J, Rivera-Munoz P, Bluteau O, Mabialah V, Diop M, Wen Q, Petit A, Bauchet AL, Reinhardt D, Bornhauser B et al. Characterization of novel genomic alterations and therapeutic approaches using acute megakaryoblastic leukemia xenograft models. J Exp Med. 2012; 209(11):2017-31.
24. Tschumper RC, Asmann YW, Hossain A, Huddleston PM, Wu X, Dispenzieri A, Eckloff BW, Jelinek DF. Comprehensive assessment of potential multiple myeloma immunoglobulin heavy chain V-D-J intraclonal variation using massively parallel pyrosequencing. Oncotarget. 2012;3(4):502-13.
25. Robins H. Detecting and monitoring lymphoma with high-throughput sequencing. Oncotarget. 2011;2(4):287-8.
26. Bou Samra E, Klein B, Commes T, Moreaux J. Development of gene expression-based risk score in cytogenetically normal acute myeloid leukemia patients. Oncotarget. 2012;3(8):824-32.
27. Martelli AM, Chiarini F, Evangelisti C, Cappellini A, Buontempo F, Bressanin D, Fini M, McCubrey JA. Two hits are better than one: targeting both phosphatidylinositol 3-kinase and mammalian target of rapamycin as a therapeutic strategy for acute leukemia treatment. Oncotarget. 2012;3(4):371-94.
28. Barakat MT, Humke EW, Scott MP. Learning from Jekyll to control Hyde: Hedgehog signaling in development and cancer. Trends Mol Med. 2010; 16(8):337-48.
29. Rubin LL, de Sauvage FJ. Targeting the Hedgehog pathway in cancer. Nat. Rev. Drug Discov. 2006; 5:1026-1033
30. Tee AR, Blenis J, Proud CG. Analysis of mTOR signaling by the small G-proteins, Rheb and RhebL1. FEBS Lett. 2005; 579(21):4763-8.
31. Baud V, Karin M. Is NF-kappaB a good target for cancer therapy? Hopes and pitfalls. Nat Rev Drug Discov. 2009; 8(1):33-40.
32. Kim HJ, Hawke N, Baldwin AS. NF-kappaB and IKK as therapeutic targets in cancer. Cell Death Differ. 2006; 13(5):738-47.
33. Karin M. Nuclear factor-kappaB in cancer development and progression. Nature. 2006; 441(7092):431-6.
34. Fan Y, Dutta J, Gupta N, Fan G, Gélinas C. Regulation of programmed cell death by NF-kappaB and its role in tumorigenesis and therapy. Adv Exp Med Biol. 2008; 615:223-50.
35. Chappell WH, Steelman LS, Long JM, Kempf RC, Abrams SL, Franklin RA, Bäsecke J, Stivala F, Donia M, Fagone P, Malaponte G, Mazzarino MC, Nicoletti F, Libra M, Maksimovic-Ivanic D, Mijatovic S, et al. Ras/Raf/MEK/ERK and PI3K/PTEN/Akt/mTOR inhibitors: rationale and importance to inhibiting these pathways in human health. Oncotarget. 2011; 2(3):135-64.
36. Zhou H, Huang S. Role of mTOR signaling in tumor cell motility, invasion and metastasis. Curr Protein Pept Sci. 2011; 12(1):30-42.
37. Prakash T, Sharma VK, Adati N, Ozawa R, Kumar N, Nishida Y, Fujikake T, Takeda T, Taylor TD. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. PLoS One. 2010;5(10): e13284. doi: 10.1371/journal.pone.0013284.
38. Wang K, Ubriaco G, Sutherland LC. RBM6-RBM5 transcription-induced chimeras are differentially expressed in tumours. BMC Genomics. 2007; 8:348.
39. Kowalski PE, Freeman JD, Mager DL. Intergenic splicing between a HERV-H endogenous retrovirus and two adjacent human genes. Genomics. 1999; 57(3):371-9.
40. Kato M, Khan S, Gonzalez N, O'Neill BP, McDonald KJ, Cooper BJ, Angel NZ, Hart DN. Hodgkin's lymphoma cell lines express a fusion protein encoded by intergenically spliced mRNA for the multilectin receptor DEC-205 (CD205) and a novel C-type lectin receptor DCL-1. J Biol Chem. 2003; 278(36):34035-41.
41. Zhang Y, Gong M, Yuan H, Park HG, Frierson HF, Li H. Chimeric transcript generated by cis-splicing of adjacent genes regulates prostate cancer cell proliferation. Cancer Discov. 2012; 2(7):598-607.
42. Kumar-Sinha C, Kalyana-Sundaram S, Chinnaiyan AM. SLC45A3-ELK4 chimera in prostate cancer: spotlight on cis-splicing. Cancer Discov. 2012; 2(7):582-5.
43. Pession A, Masetti R, Rizzari C, Putti MC, Casale F, Fagioli F, Luciani M, Lo Nigro L, Menna G, Micalizzi C, Santoro N, Testi AM, Zecca M, Biondi A, Pigazzi M, Rutella S, et al. Results of the AIEOP AML 2002/01 multicenter, prospective trial for treatment of children with acute myeloid leukemia. Blood. 2013; [Epub ahead of print]
44. Trapnell C, Pachter L, Salzberg SL. TopHat: discovering splice junctions with RNA-Seq. Bioinformatics. 2009; 25(9):1105-11.
45. McPherson A, Hormozdiari F, Zayed A, Giuliany R, Ha G, Sun MG, Griffith M, Heravi Moussavi A, Senz J, Melnyk N, Pacheco M, Marra MA, Hirst M, Nielsen TO, Sahinalp SC, et al. deFuse: an algorithm for gene fusion discovery in tumor RNA-Seq data. PLoS Comput Biol. 2011; 7(5):e1001138.
46. Iyer MK, Chinnaiyan AM, Maher CA. ChimeraScan: a tool for identifying chimeric transcription in sequencing data. Bioinformatics. 2011; 27(20):2903-4.
47. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R and 1000 Genome Project Data Processing Subgroup. The Sequence alignment/map (SAM) format and SAMtools. Bioinformatics. 2009; 25:2078-9.
48. Robinson MD, Oshlack A. A scaling normalization method for differential expression analysis of RNA-seq data. Genome Biology. 2010; 11, R25.