Molecular diagnosis of myeloproliferative neoplasms

References

• Rowley JD. Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature243(5405), 290–293 (1973).
   PubMed Web of Science ®Google Scholar
• Heisterkamp N, Stam K, Groffen J, de Klein A, Grosveld G. Structural organization of the bcr gene and its role in the Ph translocation. Nature315(6022), 758–761 (1985).
   PubMed Web of Science ®Google Scholar
• Stam K, Heisterkamp N, Grosveld G et al. Evidence of a new chimeric BCR/c-ABL mRNA in patients with chronic myelocytic leukemia and the Philadelphia chromosome. N. Engl. J. Med.313(23), 1429–1433 (1985).
   PubMed Web of Science ®Google Scholar
• Bernards A, Rubin CM, Westbrook CA, Paskind M, Baltimore D. The first intron in the human c-abl gene is at least 200 kilobases long and is a target for translocations in chronic myelogenous leukemia. Mol. Cell Biol.7(9), 3231–3236 (1987).
   PubMed Web of Science ®Google Scholar
• Melo JV. BCR-ABL gene variants. Baillieres Clin. Haematol.10(2), 203–222 (1997).
   PubMed Web of Science ®Google Scholar
• Groffen J, Stephenson JR, Heisterkamp N, de Klein A, Bartram CR, Grosveld G. Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell36(1), 93–99 (1984).
   PubMed Web of Science ®Google Scholar
• Karlic H, Grill R, Schlogl E. Minor BCR (m-bcr) rearrangements may appear in major BCR (M-bcr)-positive CML cases. Hematol. Pathol.6(4), 203–207 (1992).
   PubMedGoogle Scholar
• Saglio G, Guerrasio A, Rosso C et al. New type of Bcr/Abl junction in Philadelphia chromosome-positive chronic myelogenous leukemia. Blood76(9), 1819–1824 (1990).
   PubMed Web of Science ®Google Scholar
• Andreasson P, Johansson B, Carlsson M et al. BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion. Genes Chromosomes Cancer20(3), 299–304 (1997).
   PubMed Web of Science ®Google Scholar
• Barbouti A, Ahlgren T, Johansson B et al. Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate. Br. J. Haematol.122(1), 85–93 (2003).
   PubMed Web of Science ®Google Scholar
• Baccarani M, Saglio G, Goldman J et al. Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. Blood108(6), 1809–1820 (2006).
   PubMed Web of Science ®Google Scholar
• Marktel S, Marin D, Foot N et al. Chronic myeloid leukemia in chronic phase responding to imatinib: the occurrence of additional cytogenetic abnormalities predicts disease progression. Haematologica88(3), 260–267 (2003).
   PubMed Web of Science ®Google Scholar
• Kantarjian HM, Smith TL, McCredie KB et al. Chronic myelogenous leukemia: a multivariate analysis of the associations of patient characteristics and therapy with survival. Blood66(6), 1326–1335 (1985).
   PubMed Web of Science ®Google Scholar
• O’Dwyer ME, Mauro MJ, Blasdel C et al. Clonal evolution and lack of cytogenetic response are adverse prognostic factors for hematologic relapse of chronic phase CML patients treated with imatinib mesylate. Blood103(2), 451–455 (2004).
   PubMed Web of Science ®Google Scholar
• Chase A, Huntly BJ, Cross NC. Cytogenetics of chronic myeloid leukaemia. Best Pract. Res. Clin. Haematol.14(3), 553–571 (2001).
   PubMed Web of Science ®Google Scholar
• Landstrom AP, Tefferi A. Fluorescent in situ hybridization in the diagnosis, prognosis, and treatment monitoring of chronic myeloid leukemia. Leuk. Lymphoma47(3), 397–402 (2006).
   PubMed Web of Science ®Google Scholar
• Dewald GW, Schad CR, Christensen ER et al. The application of fluorescent in situ hybridization to detect Mbcr/abl fusion in variant Ph chromosomes in CML and ALL. Cancer Genet. Cytogenet.71(1), 7–14 (1993).
   PubMed Web of Science ®Google Scholar
• Chase A, Grand F, Zhang JG, Blackett N, Goldman J, Gordon M. Factors influencing the false positive and negative rates of BCR-ABL fluorescence in situ hybridization. Genes Chromosomes Cancer18(4), 246–253 (1997).
   PubMed Web of Science ®Google Scholar
• Sinclair PB, Green AR, Grace C, Nacheva EP. Improved sensitivity of BCR-ABL detection: a triple-probe three-color fluorescence in situ hybridization system. Blood90(4), 1395–1402 (1997).
   PubMed Web of Science ®Google Scholar
• Huntly BJ, Guilhot F, Reid AG et al. Imatinib improves but may not fully reverse the poor prognosis of patients with CML with derivative chromosome 9 deletions. Blood102(6), 2205–2212 (2003).
   PubMed Web of Science ®Google Scholar
• Sinclair PB, Nacheva EP, Leversha M et al. Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia. Blood95(3), 738–743 (2000).
   PubMed Web of Science ®Google Scholar
• Yoong Y, VanDeWalker TJ, Carlson RO, Dewald GW, Tefferi A. Clinical correlates of submicroscopic deletions involving the ABL-BCR translocation region in chronic myeloid leukemia. Eur. J. Haematol.74(2), 124–127 (2005).
   PubMed Web of Science ®Google Scholar
• Branford S, Hughes T. Diagnosis and monitoring of chronic myeloid leukemia by qualitative and quantitative RT-PCR. Methods Mol. Med.125, 69–92 (2006).
   PubMedGoogle Scholar
• Hughes T, Branford S. Molecular monitoring of BCR-ABL as a guide to clinical management in chronic myeloid leukaemia. Blood Rev.20(1), 29–41 (2006).
   PubMed Web of Science ®Google Scholar
• Rozman C, Urbano-Ispizua A, Cervantes F et al. Analysis of the clinical relevance of the breakpoint location within M-BCR and the type of chimeric mRNA in chronic myelogenous leukemia. Leukemia9(6), 1104–1107 (1995).
   PubMed Web of Science ®Google Scholar
• Branford S, Hughes TP, Rudzki Z. Dual transcription of b2a2 and b3a2 BCR–ABL transcripts in chronic myeloid leukaemia is confined to patients with a linked polymorphism within the BCR gene. Br. J. Haematol.117(4), 875–877 (2002).
   PubMed Web of Science ®Google Scholar
• Ravandi F, Cortes J, Albitar M et al. Chronic myelogenous leukaemia with p185(BCR/ABL) expression: characteristics and clinical significance. Br. J. Haematol.107(3), 581–586 (1999).
   PubMed Web of Science ®Google Scholar
• Pane F, Intrieri M, Quintarelli C, Izzo B, Muccioli GC, Salvatore F. BCR/ABL genes and leukemic phenotype: from molecular mechanisms to clinical correlations. Oncogene21(56), 8652–8667 (2002).
   PubMed Web of Science ®Google Scholar
• Verstovsek S, Lin H, Kantarjian H et al. Neutrophilic-chronic myeloid leukemia: low levels of p230 BCR/ABL mRNA and undetectable BCR/ABL protein may predict an indolent course. Cancer94(9), 2416–2425 (2002).
   PubMed Web of Science ®Google Scholar
• Beillard E, Pallisgaard N, van der Velden VH et al. Evaluation of candidate control genes for diagnosis and residual disease detection in leukemic patients using ‘real-time’ quantitative reverse-transcriptase polymerase chain reaction (RQ-PCR) – a Europe against cancer program. Leukemia17(12), 2474–2486 (2003).
   PubMed Web of Science ®Google Scholar
• Hughes TP, Kaeda J, Branford S et al. Frequency of major molecular responses to imatinib or interferon α plus cytarabine in newly diagnosed chronic myeloid leukemia. N. Engl. J. Med.349(15), 1423–1432 (2003).
   PubMed Web of Science ®Google Scholar
• Branford S, Seymour JF, Grigg A et al. BCR-ABL messenger RNA levels continue to decline in patients with chronic phase chronic myeloid leukemia treated with imatinib for more than 5 years and approximately half of all first-line treated patients have stable undetectable BCR–ABL using strict sensitivity criteria. Clin. Cancer Res.13(23), 7080–7085 (2007).
   PubMed Web of Science ®Google Scholar
• Branford S, Fletcher L, Cross NC et al. Desirable performance characteristics for BCR–ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials. Blood112(8), 3330–3338 (2008).
   PubMed Web of Science ®Google Scholar
• Branford S, Rudzki Z, Parkinson I et al. Real-time quantitative PCR analysis can be used as a primary screen to identify patients with CML treated with imatinib who have BCR–ABL kinase domain mutations. Blood104(9), 2926–2932 (2004).
   PubMed Web of Science ®Google Scholar
• Apperley JF. Part I: mechanisms of resistance to imatinib in chronic myeloid leukaemia. Lancet Oncol.8(11), 1018–1029 (2007).
   PubMed Web of Science ®Google Scholar
• Branford S, Rudzki Z, Walsh S et al. Detection of BCR–ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. Blood102(1), 276–283 (2003).
   PubMed Web of Science ®Google Scholar
• Soverini S, Martinelli G, Rosti G et al. ABL mutations in late chronic phase chronic myeloid leukemia patients with up-front cytogenetic resistance to imatinib are associated with a greater likelihood of progression to blast crisis and shorter survival: a study by the GIMEMA Working Party on Chronic Myeloid Leukemia. J. Clin. Oncol.23(18), 4100–4109 (2005).
   PubMed Web of Science ®Google Scholar
• Roche-Lestienne C, Soenen-Cornu V, Grardel-Duflos N et al. Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. Blood100(3), 1014–1018 (2002).
   PubMed Web of Science ®Google Scholar
• Nicolini FE, Hayette S, Corm S et al. Clinical outcome of 27 imatinib mesylate-resistant chronic myelogenous leukemia patients harboring a T315I BCR–ABL mutation. Haematologica92(9), 1238–1241 (2007).
   PubMed Web of Science ®Google Scholar
• Druker BJ, Guilhot F, O’Brien SG et al. Five-year follow-up of patients receiving imatinib for chronic myeloid leukemia. N. Engl. J. Med.355(23), 2408–2417 (2006).
   PubMed Web of Science ®Google Scholar
• Baxter EJ, Scott LM, Campbell PJ et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet365(9464), 1054–1061 (2005).
   PubMed Web of Science ®Google Scholar
• James C, Ugo V, Le Couedic JP et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature434(7037), 1144–1148 (2005).
   PubMed Web of Science ®Google Scholar
• Kralovics R, Passamonti F, Buser AS et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N. Engl. J. Med.352(17), 1779–1790 (2005).
   PubMed Web of Science ®Google Scholar
• Levine RL, Wadleigh M, Cools J et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell7(4), 387–397 (2005).
   PubMed Web of Science ®Google Scholar
• Rane SG, Reddy EP. JAKs, STATs and Src kinases in hematopoiesis. Oncogene21(21), 3334–3358 (2002).
   PubMed Web of Science ®Google Scholar
• Saharinen P, Silvennoinen O. The pseudokinase domain is required for suppression of basal activity of Jak2 and Jak3 tyrosine kinases and for cytokine-inducible activation of signal transduction. J. Biol. Chem.277(49), 47954–47963 (2002).
   PubMed Web of Science ®Google Scholar
• Benekli M, Baer MR, Baumann H, Wetzler M. Signal transducer and activator of transcription proteins in leukemias. Blood101(8), 2940–2954 (2003).
   PubMed Web of Science ®Google Scholar
• Verstovsek S, Silver RT, Cross NC, Tefferi A. JAK2V617F mutational frequency in polycythemia vera: 100%, >90%, less? Leukemia20(11), 2067 (2006).
   PubMed Web of Science ®Google Scholar
• Vizmanos JL, Ormazabal C, Larrayoz MJ, Cross NC, Calasanz MJ. JAK2 V617F mutation in classic chronic myeloproliferative diseases: a report on a series of 349 patients. Leukemia20(3), 534–535 (2006).
   PubMed Web of Science ®Google Scholar
• Steensma DP, McClure RF, Karp JE et al. JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained. Leukemia20(6), 971–978 (2006).
   PubMed Web of Science ®Google Scholar
• Lee JW, Soung YH, Kim SY et al. JAK2 V617F mutation is uncommon in non-Hodgkin lymphomas. Leuk. Lymphoma47(2), 313–314 (2006).
   PubMed Web of Science ®Google Scholar
• Melzner I, Weniger MA, Menz CK, Moller P. Absence of the JAK2 V617F activating mutation in classical Hodgkin lymphoma and primary mediastinal B-cell lymphoma. Leukemia20(1), 157–158 (2006).
   PubMed Web of Science ®Google Scholar
• Tefferi A, Sirhan S, Lasho TL et al. Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br. J. Haematol.131(2), 166–171 (2005).
   PubMed Web of Science ®Google Scholar
• Lacout C, Pisani DF, Tulliez M, Gachelin FM, Vainchenker W, Villeval JL. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood108(5), 1652–1660 (2006).
   PubMed Web of Science ®Google Scholar
• Shide K, Shimoda HK, Kumano T et al. Development of ET, primary myelofibrosis and PV in mice expressing JAK2 V617F. Leukemia22(1), 87–95 (2008).
   PubMed Web of Science ®Google Scholar
• Vannucchi AM, Antonioli E, Guglielmelli P et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood110(3), 840–846 (2007).
   PubMed Web of Science ®Google Scholar
• Scott LM, Scott MA, Campbell PJ, Green AR. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood108(7), 2435–2437 (2006).
   PubMed Web of Science ®Google Scholar
• Vannucchi AM, Pancrazzi A, Bogani C, Antonioli E, Guglielmelli P. A quantitative assay for JAK2 (V617F) mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. Leukemia20(6), 1055–1060 (2006).
   PubMed Web of Science ®Google Scholar
• McClure R, Mai M, Lasho T. Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia20(1), 168–171 (2006).
   PubMed Web of Science ®Google Scholar
• Jones AV, Kreil S, Zoi K et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood106(6), 2162–2168 (2005).
   PubMed Web of Science ®Google Scholar
• Kroger N, Badbaran A, Holler E et al. Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood109(3), 1316–1321 (2007).
   PubMed Web of Science ®Google Scholar
• Scott LM, Tong W, Levine RL et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N. Engl. J. Med.356(5), 459–468 (2007).
   PubMed Web of Science ®Google Scholar
• Percy MJ, Scott LM, Erber WN et al. The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels. Haematologica92(12), 1607–1614 (2007).
   PubMed Web of Science ®Google Scholar
• Pietra D, Li S, Brisci A et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood111(3), 1686–1689 (2008).
   PubMed Web of Science ®Google Scholar
• Jones AV, Cross NC, White HE, Green AR, Scott LM. Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis. Haematologica93(10), 1560–1564 (2008).
   PubMed Web of Science ®Google Scholar
• Foster DC, Sprecher CA, Grant FJ et al. Human thrombopoietin: gene structure, cDNA sequence, expression, and chromosomal localization. Proc. Natl Acad. Sci. USA91(26), 13023–13027 (1994).
   PubMed Web of Science ®Google Scholar
• Pikman Y, Lee BH, Mercher T et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med.3(7), e270 (2006).
   PubMed Web of Science ®Google Scholar
• Schnittger S, Bacher U, Haferlach C et al. Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis. Haematologica94(1), 141–144 (2009).
   PubMedGoogle Scholar
• Pardanani AD, Levine RL, Lasho T et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood108(10), 3472–3476 (2006).
   PubMed Web of Science ®Google Scholar
• Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood107(11), 4274–4281 (2006).
   PubMed Web of Science ®Google Scholar
• Lasho TL, Pardanani A, McClure RF et al. Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time. Br. J. Haematol.135(5), 683–687 (2006).
   PubMed Web of Science ®Google Scholar
• Cools J, DeAngelo DJ, Gotlib J et al. 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(13), 1201–1214 (2003).
   PubMed Web of Science ®Google Scholar
• Klion AD, Robyn J, Akin C et al. Molecular remission and reversal of myelofibrosis in response to imatinib mesylate treatment in patients with the myeloproliferative variant of hypereosinophilic syndrome. Blood103(2), 473–478 (2004).
   PubMed Web of Science ®Google Scholar
• Pardanani A, Elliott M, Reeder T et al. Imatinib for systemic mast-cell disease. Lancet362(9383), 535–536 (2003).
   PubMed Web of Science ®Google Scholar
• Score J, Curtis C, Waghorn K et al. Identification of a novel imatinib responsive KIF5B-PDGFRA fusion gene following screening for PDGFRA overexpression in patients with hypereosinophilia. Leukemia20(5), 827–832 (2006).
   PubMed Web of Science ®Google Scholar
• Baxter EJ, Hochhaus A, Bolufer P et al. The t(4;22)(q12;q11) in atypical chronic myeloid leukaemia fuses BCR to PDGFRA. Hum. Mol. Genet.11(12), 1391–1397 (2002).
   PubMed Web of Science ®Google Scholar
• Walz C, Curtis C, Schnittger S et al. Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2–PDGFRA fusion gene. Genes Chromosomes Cancer45(10), 950–956 (2006).
   PubMed Web of Science ®Google Scholar
• Vandenberghe P, Wlodarska I, Michaux L et al. Clinical and molecular features of FIP1L1-PDFGRA (+) chronic eosinophilic leukemias. Leukemia18(4), 734–742 (2004).
   PubMed Web of Science ®Google Scholar
• Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF receptor β to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell77(2), 307–316 (1994).
   PubMed Web of Science ®Google Scholar
• Carroll M, Tomasson MH, Barker GF, Golub TR, Gilliland DG. The TEL/platelet-derived growth factor β receptor (PDGF β R) fusion in chronic myelomonocytic leukemia is a transforming protein that self-associates and activates PDGF β R kinase-dependent signaling pathways. Proc. Natl Acad. Sci. USA93(25), 14845–14850 (1996).
   PubMed Web of Science ®Google Scholar
• Abe A, Emi N, Tanimoto M, Terasaki H, Marunouchi T, Saito H. Fusion of the platelet-derived growth factor receptor β to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. Blood90(11), 4271–4277 (1997).
   PubMed Web of Science ®Google Scholar
• Levine RL, Wadleigh M, Sternberg DW et al.KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32). Leukemia19(1), 27–30 (2005).
   PubMed Web of Science ®Google Scholar
• Vizmanos JL, Novo FJ, Roman JP et al.NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder. Cancer Res.64(8), 2673–2676 (2004).
   PubMed Web of Science ®Google Scholar
• Morerio C, Acquila M, Rosanda C et al.HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2). Cancer Res.64(8), 2649–2651 (2004).
   PubMed Web of Science ®Google Scholar
• Wilkinson K, Velloso ER, Lopes LF et al. Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib. Blood102(12), 4187–4190 (2003).
   PubMed Web of Science ®Google Scholar
• Magnusson MK, Meade KE, Brown KE et al. Rabaptin-5 is a novel fusion partner to platelet-derived growth factor β receptor in chronic myelomonocytic leukemia. Blood98(8), 2518–2525 (2001).
   PubMed Web of Science ®Google Scholar
• Ross TS, Bernard OA, Berger R, Gilliland DG. Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor β receptor (PDGFβR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). Blood91(12), 4419–4426 (1998).
   PubMed Web of Science ®Google Scholar
• Schwaller J, Anastasiadou E, Cain D et al. H4(D10S170), a gene frequently rearranged in papillary thyroid carcinoma, is fused to the platelet-derived growth factor receptor β gene in atypical chronic myeloid leukemia with t(5;10)(q33;q22). Blood97(12), 3910–3918 (2001).
   PubMed Web of Science ®Google Scholar
• Grand FH, Burgstaller S, Kuhr T et al. p53-Binding protein 1 is fused to the platelet-derived growth factor receptor β in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder. Cancer Res.64(20), 7216–7219 (2004).
   PubMed Web of Science ®Google Scholar
• Xiao S, Nalabolu SR, Aster JC et al.FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat. Genet.18(1), 84–87 (1998).
   PubMed Web of Science ®Google Scholar
• Smedley D, Hamoudi R, Clark J et al. The t(8;13)(p11;q11–12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP. Hum. Mol. Genet.7(4), 637–642 (1998).
   PubMed Web of Science ®Google Scholar
• Popovici C, Adelaide J, Ollendorff V et al. Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). Proc. Natl Acad. Sci. USA95(10), 5712–5717 (1998).
   PubMed Web of Science ®Google Scholar
• Still IH, Chernova O, Hurd D, Stone RM, Cowell JK. Molecular characterization of the t(8;13)(p11;q12) translocation associated with an atypical myeloproliferative disorder: evidence for three discrete loci involved in myeloid leukemias on 8p11. Blood90(8), 3136–3141 (1997).
   PubMedGoogle Scholar
• Reiter A, Sohal J, Kulkarni S et al. Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome. Blood92(5), 1735–1742 (1998).
   PubMed Web of Science ®Google Scholar
• Chaffanet M, Popovici C, Leroux D et al. t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11–12. Oncogene16(7), 945–949 (1998).
   PubMed Web of Science ®Google Scholar
• Popovici C, Zhang B, Gregoire MJ et al. The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1. Blood93(4), 1381–1389 (1999).
   PubMed Web of Science ®Google Scholar
• Mugneret F, Chaffanet M, Maynadie M et al. The 8p12 myeloproliferative disorder. t(8;19)(p12;q13.3): a novel translocation involving the FGFR1 gene. Br. J. Haematol.111(2), 647–649 (2000).
   PubMed Web of Science ®Google Scholar
• Sohal J, Chase A, Mould S et al. Identification of four new translocations involving FGFR1 in myeloid disorders. Genes Chromosomes Cancer32(2), 155–163 (2001).
   PubMed Web of Science ®Google Scholar
• Demiroglu A, Steer EJ, Heath C et al. The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. Blood98(13), 3778–3783 (2001).
   PubMed Web of Science ®Google Scholar
• Fioretos T, Panagopoulos I, Lassen C et al. Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. Genes Chromosomes Cancer32(4), 302–310 (2001).
   PubMed Web of Science ®Google Scholar
• Guasch G, Popovici C, Mugneret F et al. Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3). Blood101(1), 286–288 (2003).
   PubMed Web of Science ®Google Scholar
• Pini M, Gottardi E, Scaravaglio P et al. A fourth case of BCR-FGFR1 positive CML-like disease with t(8;22) translocation showing an extensive deletion on the derivative chromosome 8p. Hematol. J.3(6), 315–316 (2002).
   PubMedGoogle Scholar
• Grand EK, Grand FH, Chase AJ et al. Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. Genes Chromosomes Cancer40(1), 78–83 (2004).
   PubMed Web of Science ®Google Scholar
• Belloni E, Trubia M, Gasparini P et al. 8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes. Genes Chromosomes Cancer42(3), 320–325 (2005).
   PubMed Web of Science ®Google Scholar
• Hidalgo-Curtis C, Chase A, Drachenberg M et al. The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1. Genes Chromosomes Cancer47(5), 379–385 (2008).
   PubMed Web of Science ®Google Scholar
• Ollendorff V, Guasch G, Isnardon D, Galindo R, Birnbaum D, Pebusque MJ. Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation. J. Biol. Chem.274(38), 26922–26930 (1999).
   PubMed Web of Science ®Google Scholar
• Guasch G, Ollendorff V, Borg JP, Birnbaum D, Pebusque MJ. 8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways. Mol. Cell Biol.21(23), 8129–8142 (2001).
   PubMed Web of Science ®Google Scholar
• Roumiantsev S, Krause DS, Neumann CA et al. Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198–FGFR1 and BCR–FGFR1 fusion genes from 8p11 translocations. Cancer Cell5(3), 287–298 (2004).
   PubMed Web of Science ®Google Scholar
• Guasch G, Delaval B, Arnoulet C et al. FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice. Blood103(1), 309–312 (2004).
   PubMed Web of Science ®Google Scholar
• Garcia-Montero AC, Jara-Acevedo M, Teodosio C et al.KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood108(7), 2366–2372 (2006).
   PubMed Web of Science ®Google Scholar
• Schwartz LB, Metcalfe DD, Miller JS, Earl H, Sullivan T. Tryptase levels as an indicator of mast-cell activation in systemic anaphylaxis and mastocytosis. N. Engl. J. Med.316(26), 1622–1626 (1987).
   PubMed Web of Science ®Google Scholar
• Escribano L, Orfao A, Diaz-Agustin B et al. Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications. Blood91(8), 2731–2736 (1998).
   PubMed Web of Science ®Google Scholar
• Akin C, Brockow K, D’Ambrosio C et al. Effects of tyrosine kinase inhibitor STI571 on human mast cells bearing wild-type or mutated c-kit. Exp. Hematol.31(8), 686–692 (2003).
   PubMed Web of Science ®Google Scholar
• Corless CL, Harrell P, Lacouture M et al. Allele-specific polymerase chain reaction for the imatinib-resistant KITD816V and D816F mutations in mastocytosis and acute myelogenous leukemia. J. Mol. Diagn.8(5), 604–612 (2006).
   PubMed Web of Science ®Google Scholar
• Delhommeau F DS, James C, Masse A, le Couedic JP, Valle VD. TET2 is a novel tumor supressor gene inactivated in myeloproliferative neoplasms: identification of a pre-JAK2 V617F event. ASH Annu. Meeting Abstr. Iba-Ib3 (2008) (late breaking abstract).
   Google Scholar
• Tefferi A, Pardanani A, Lim KH et al.TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia23(5), 905–911 (2009).
   PubMed Web of Science ®Google Scholar
• Kantarjian H, Schiffer C, Jones D, Cortes J. Monitoring the response and course of chronic myeloid leukemia in the modern era of BCR-ABL tyrosine kinase inhibitors: practical advice on the use and interpretation of monitoring methods. Blood111(4), 1774–1780 (2008).
   PubMed Web of Science ®Google Scholar
• Tefferi A, Kantarjian H. Long-term experience with imatinib therapy in chronic phase chronic myelogenous leukemia – remarkable activity with room for improvement. Am. J. Hematol.83(3), 175–177 (2008).
   PubMed Web of Science ®Google Scholar
• Walz C, Curtis C, Schnittger S et al. Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2–PDGFRA fusion gene. Genes Chromosomes Cancer45(10), 950–956 (2006).
   PubMed Web of Science ®Google Scholar
• Curtis CE, Grand FH, Musto P et al. Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia. Br. J. Haematol.138(1), 77–81 (2007).
   PubMed Web of Science ®Google Scholar
• Rosati R, La Starza R, Luciano L et al.TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia. Leukemia20(9), 1623–1624 (2006).
   PubMed Web of Science ®Google Scholar
• Curtis C, Apperley JF, Dang R et al. The platelet-derived growth factor receptor β fuses to two distinct loci at 3p21 in imatinib responsive chronic eosinophilic leukemia. Blood106(11), 909A (2005).
   Google Scholar
• Lahortiga I, Akin C, Cools J et al. Activity of imatinib in systemic mastocytosis with chronic basophilic leukemia and a PRKG2–PDGFRB fusion. Haematologica93(1), 49–56 (2008).
   PubMed Web of Science ®Google Scholar
• Walz C, Metzgeroth G, Haferlach C et al. Characterization of three new imatinib-responsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor β gene. Haematologica92(2), 163–169 (2007).
   PubMed Web of Science ®Google Scholar
• Baxter EJ, Kulkarni S, Vizmanos JL et al. Novel translocations that disrupt the platelet-derived growth factor receptor β (PDGFRB) gene in BCR–ABL-negative chronic myeloproliferative disorders. Br. J. Haematol.120(2), 251–256 (2003).
   PubMed Web of Science ®Google Scholar
• La Starza R, Rosati R, Roti G et al. A new NDE1/PDGFRB fusion transcript underlying chronic myelomonocytic leukaemia in Noonan Syndrome. Leukemia21(4), 830–833 (2007).
   PubMed Web of Science ®Google Scholar
• Abe A, Tanimoto M, Towatari M et al. Acute myeloblastic leukemia (M2) with translocation (7;11) followed by marked eosinophilia and additional abnormalities of chromosome 5. Cancer Genet. Cytogenet.83(1), 37–41 (1995).
   PubMedGoogle Scholar
• Guasch G, Mack GJ, Popovici C et al.FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). Blood95(5), 1788–1796 (2000).
   PubMed Web of Science ®Google Scholar
• Walz C, Chase A, Schoch C et al. The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. Leukemia19(6), 1005–1009 (2005).
   PubMed Web of Science ®Google Scholar