Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 50, 2014, Pages E5401-E5410

  Rampal, Raajit ^a   Ahn, Jihae ^a   Abdel Wahaba, Omar ^a   Nahas, Michelle ^b   Wang, Kai ^b   Lipson, Doron ^b   Otto, Geoff A ^b   Yelensky, Roman ^b   Hricik, Todd ^a   McKenney, Anna Sophia ^a   Chiosis, Gabriela ^a   Chung, Young Rock ^a   Pandey, Suveg ^a   Van Den Brink, Marcel R M ^a   Armstrong, Scott A ^a   Dogan, Ahmet ^a   Intlekofer, Andrew ^a   Manshouri, Taghi ^c   Park, Christopher Y ^a   Verstovsek, Srdan ^c   Rapaport, Franck ^a   Stephens, Philip J ^b   Miller, Vincent A ^b   Levine, Ross L ^a   more..

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b FOUNDATION MEDICINE   (United States)

^c UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Cancer biology; Genetics; Leukemia; Myeloproliferative neoplasm; Targeted therapy

Indexed keywords

5 AZA 2' DEOXYCYTIDINE; 8 (6 IODOBENZO[D][1.3]DIOXOL 5 YLTHIO) 9 (3 (ISOPROPYLAMINO)PROPYL) 9H PURINE 6 AMINE; CALRETICULIN; HEAT SHOCK PROTEIN 90 INHIBITOR; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; JANUS KINASE 2; MOMELOTINIB; PROTEIN; PROTEIN ASXL1; PROTEIN P53; PROTEIN TET2; RUXOLITINIB; STAT3 PROTEIN; STAT5 PROTEIN; UNCLASSIFIED DRUG; 1,3 BENZODIOXOLE DERIVATIVE; 9H-PURINE-9-PROPANAMINE, 6-AMINO-8-((6-IODO-1,3-BENZODIOXOL-5-YL)THIO)-N-(1-METHYLETHYL)-; AZACITIDINE; DECITABINE; JAK2 PROTEIN, HUMAN; PURINE DERIVATIVE; PYRAZOLE DERIVATIVE; TP53 PROTEIN, HUMAN;

ACUTE GRANULOCYTIC LEUKEMIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANTIPROLIFERATIVE ACTIVITY; ARTICLE; CANCER SURVIVAL; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HEPATOMEGALY; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MEGAKARYOCYTE ERYTHROID PROGENITOR; MOUSE; MYELOPROLIFERATIVE NEOPLASM; NONHUMAN; OUTCOME ASSESSMENT; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; SOMATIC MUTATION; SPLENOMEGALY; SPLICEOSOME; THERAPY; ANALOGS AND DERIVATIVES; ANIMAL; CFU COUNTING; COMPLICATION; EXOME; FLOW CYTOMETRY; GENETICS; HEMATOLOGIC DISEASE; LEUKEMIA, MYELOID, ACUTE; MISSENSE MUTATION; MYELOPROLIFERATIVE DISORDER; WESTERN BLOTTING;

MUS;

ANIMALS; AZACITIDINE; BENZODIOXOLES; BLOTTING, WESTERN; COLONY-FORMING UNITS ASSAY; EXOME; FLOW CYTOMETRY; HEMATOLOGIC NEOPLASMS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; JANUS KINASE 2; LEUKEMIA, MYELOID, ACUTE; MICE; MUTATION, MISSENSE; MYELOPROLIFERATIVE DISORDERS; PURINES; PYRAZOLES; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84918570809     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1407792111     Document Type: Article

References (35)

1. Campbell PJ, Green AR (2006) The myeloproliferative disorders. N Engl J Med 355(23): 2452-2466.
2. James C, et al. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434(7037):1144-1148.
3. Kralovics R, et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352(17):1779-1790.
4. Baxter EJ, et al.; Cancer Genome Project (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365(9464):1054-1061.
5. Zhao R, et al. (2005) Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem 280(24):22788-22792.
6. Levine RL, et al. (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7(4):387-397.
7. Cervantes F, et al. (1991) Acute transformation in nonleukemic chronic myeloproliferative disorders: Actuarial probability and main characteristics in a series of 218 patients. Acta Haematol 85(3):124-127.
8. Mesa RA, et al. (2005) Leukemic transformation in myelofibrosis with myeloid metaplasia: A single-institution experience with 91 cases. Blood 105(3):973-977.
9. Kennedy JA, et al. (2013) Treatment outcomes following leukemic transformation in Philadelphia-negative myeloproliferative neoplasms. Blood 121(14):2725-2733.
10. Zhang SJ, et al. (2012) Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome. Blood 119(19):4480-4485.
11. Abdel-Wahab O, et al. (2010) Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res 70(2):447-452.
12. Harutyunyan A, Klampfl T, Cazzola M, Kralovics R (2011) p53 lesions in leukemic transformation. N Engl J Med 364(5):488-490.
13. Green A, Beer P (2010) Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N Engl J Med 362(4):369-370.
14. Theocharides A, et al. (2007) Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood 110(1):375-379.
15. Campbell PJ, et al. (2006) Mutation of JAK2 in the myeloproliferative disorders: Timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood 108(10):3548-3555.
16. Fröhling S, et al. (2006) Rare occurrence of the JAK2 V617F mutation in AML subtypes M5, M6, and M7. Blood 107(3):1242-1243.
17. Levine RL, et al. (2005) The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 106(10):3377-3379.
18. Thoennissen NH, et al. (2010) Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome-negative myeloproliferative neoplasms. Blood 115(14):2882-2890.
19. Klampfl T, et al. (2011) Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood 118(1):167-176.
20. Beer PA, et al. (2010) Two routes to leukemic transformation after a JAK2 mutationpositive myeloproliferative neoplasm. Blood 115(14):2891-2900.
21. Klampfl T, et al. (2013) Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med 369(25):2379-2390.
22. Nangalia J, et al. (2013) Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med 369(25):2391-2405.
23. Liu Y, et al. (2009) p53 regulates hematopoietic stem cell quiescence. Cell Stem Cell 4(1):37-48.
24. Wernig G, et al. (2006) Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 107(11):4274-4281.
25. Huntly BJP, et al. (2004) MOZ-TIF2, but not BCR-ABL, confers properties of leukemic stem cells to committed murine hematopoietic progenitors. Cancer Cell 6(6):587-596.
26. Krivtsov AV, et al. (2006) Transformation from committed progenitor to leukaemia stem cell initiated by MLL-AF9. Nature 442(7104):818-822.
27. Marubayashi S, et al. (2010) HSP90 is a therapeutic target in JAK2-dependent myeloproliferative neoplasms in mice and humans. J Clin Invest 120(10):3578-3593.
28. Mascarenhas J, et al. (2010) Therapeutic options for patients with myelofibrosis in blast phase. Leuk Res 34(9):1246-1249.
29. Thepot S, et al.; Groupe Francophone des Myelodysplasies (GFM) (2010) Treatment of progression of Philadelphia-negative myeloproliferative neoplasms to myelodysplastic syndrome or acute myeloid leukemia by azacitidine: A report on 54 cases on the behalf of the Groupe Francophone des Myelodysplasies (GFM). Blood 116(19):3735-3742.
30. Abdulkarim K, et al. (2009) AML transformation in 56 patients with Ph- MPD in two well defined populations. Eur J Haematol 82(2):106-111.
31. Eghtedar A, et al. (2012) Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia. Blood 119(20):4614-4618.
32. Moulick K, et al. (2011) Affinity-based proteomics reveal cancer-specific networks coordinated by Hsp90. Nat Chem Biol 7(11):818-826.
33. Patel JP, et al. (2012) Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 366(12):1079-1089.
34. Koppikar P, et al. (2010) Efficacy of the JAK2 inhibitor INCB16562 in a murine model of MPLW515L-induced thrombocytosis and myelofibrosis. Blood 115(14):2919-2927.
35. Committee on Care and Use of Laboratory Animals (1996) Guide for the Care and Use of Laboratory Animals (Natl Inst Health, Bethesda), DHHS Publ No (NIH) 85-23.