Molecular diagnosis of myeloproliferative neoplasms

Expert Review of Molecular Diagnostics

Volumn 9, Issue 5, 2009, Pages 481-492

  Patnaik, Mrinal M ^a   Tefferi, Ayalew ^a  

^a MAYO CLINIC   (United States)

Author keywords

BCR ABL; FGFR JAK2; Molecular diagnosis; Myeloproliferative leukemia virus oncogene protein; Myeloproliferative neoplasm; PDGFRA; PDGFRB

Indexed keywords

BCR ABL PROTEIN; GRANULOCYTE COLONY STIMULATING FACTOR; IMATINIB; JANUS KINASE 1; JANUS KINASE 2; STAT PROTEIN;

BCR ABL FUSION GENE; CANCER RELAPSE; CHRONIC MYELOID LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLONAL VARIATION; DIAGNOSTIC PROCEDURE; EOSINOPHIL; FGFR1 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE MUTATION; GENE REARRANGEMENT; HUMAN; JAK2 GENE; JAK3 DEFICIENCY; MAST CELL; MINIMAL RESIDUAL DISEASE; MPL GENE; MYELOPROLIFERATIVE DISORDER; ONCOGENE; PATHOGENESIS; PDGFRA GENE; PDGFRB GENE; POLYMERASE CHAIN REACTION; PROGNOSIS; REVIEW; SOMATIC MUTATION;

DNA MUTATIONAL ANALYSIS; EXONS; FUSION PROTEINS, BCR-ABL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; MYELOPROLIFERATIVE DISORDERS; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; PRIMARY MYELOFIBROSIS; TUMOR MARKERS, BIOLOGICAL;

EID: 67650383817     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.09.29     Document Type: Review

References (129)

1. Rowley JD. Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243(5405), 290-293 (1973).
2. Heisterkamp N, Stam K, Groffen J, de Klein A, Grosveld G. Structural organization of the bcr gene and its role in the Ph translocation. Nature 315(6022), 758-761 (1985). (Pubitemid 15022931)
3. 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). (Pubitemid 16212323)
4. 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). (Pubitemid 17122727)
5. Melo JV. BCR-ABL gene variants. Baillieres Clin. Haematol. 10(2), 203-222 (1997).
6. 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. Cell 36(1), 93-99 (1984). (Pubitemid 14155374)
7. 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).
8. Saglio G, Guerrasio A, Rosso C et al. New type of Bcr/Abl junction in Philadelphia chromosome-positive chronic myelogenous leukemia. Blood 76(9), 1819-1824 (1990).
9. Andreasson P, Johansson B, Carlsson M et al. BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion. Genes Chromosomes Cancer 20(3), 299-304 (1997). (Pubitemid 27484106)
10. 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). (Pubitemid 36819342)
11. 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. Blood 108(6), 1809-1820 (2006). • Excellent review describing the current concepts and recommendations for the diagnosis, treatment and monitoring of patients with chronic myelogenous leukemia (CML).
12. 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. Haematologica 88(3), 260-267 (2003). (Pubitemid 36358713)
13. Kantarjian HM, Smith TL, McCredie KB et al. Chronic myelogenous leukemia: a multivariate analysis of the associations of patient characteristics and therapy with survival. Blood 66(6), 1326-1335 (1985). (Pubitemid 16194695)
14. 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. Blood 103(2), 451-455 (2004). (Pubitemid 38140072)
15. Chase A, Huntly BJ, Cross NC. Cytogenetics of chronic myeloid leukaemia. Best Pract. Res. Clin. Haematol. 14(3), 553-571 (2001).
16. Landstrom AP, Tefferi A. Fluorescent in situ hybridization in the diagnosis, prognosis, and treatment monitoring of chronic myeloid leukemia. Leuk. Lymphoma 47(3), 397-402 (2006). • Useful review article on the role of FISH in the diagnosis, prognosis and management of CML. (Pubitemid 43102086)
17. 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). (Pubitemid 24032321)
18. 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 Cancer 18(4), 246-253 (1997). (Pubitemid 27161394)
19. Sinclair PB, Green AR, Grace C, Nacheva EP. Improved sensitivity of BCR-ABL detection: a triple-probe three-color fluorescence in situ hybridization system. Blood 90(4), 1395-1402 (1997). (Pubitemid 27355411)
20. 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. Blood 102(6), 2205-2212 (2003). (Pubitemid 37122400)
21. Sinclair PB, Nacheva EP, Leversha M et al. Large deletions at the t(9;22) breakpoint are common and may identify a poorprognosis subgroup of patients with chronic myeloid leukemia. Blood 95(3), 738-743 (2000). (Pubitemid 30062690)
22. 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). (Pubitemid 40175316)
23. Branford S, Hughes T. Diagnosis and monitoring of chronic myeloid leukemia by qualitative and quantitative RT-PCR. Methods Mol. Med. 125, 69-92 (2006). • Good article describing the role of PCR in the monitoring of CML. This article also describes the concept of monitoring for minimal residual disease.
24. 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). (Pubitemid 43106716)
25. 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. Leukemia 9(6), 1104-1107 (1995).
26. 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). (Pubitemid 34639249)
27. 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).
28. Pane F, Intrieri M, Quintarelli C, Izzo B, Muccioli GC, Salvatore F. BCR/ABL genes and leukemic phenotype: from molecular mechanisms to clinical correlations. Oncogene 21(56), 8652-8667 (2002). (Pubitemid 36084197)
29. 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. Cancer 94(9), 2416-2425 (2002). (Pubitemid 34457123)
30. 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 reversetranscriptase polymerase chain reaction (RQ-PCR) - a Europe against cancer program. Leukemia 17(12), 2474-2486 (2003).
31. 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). •• Landmark IRIS trial, comparing imatinib mesylate with IFN-α in the management of CML, establishing the superiority of imatinib therapy.
32. 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). (Pubitemid 350276891)
33. 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. Blood 112(8), 3330-3338 (2008).
34. 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. Blood 104(9), 2926-2932 (2004). (Pubitemid 39434981)
35. Apperley JF. Part I: mechanisms of resistance to imatinib in chronic myeloid leukaemia. Lancet Oncol. 8(11), 1018-1029 (2007). (Pubitemid 47629897)
36. 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. Blood 102(1), 276-283 (2003). (Pubitemid 36759665)
37. 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). (Pubitemid 46211315)
38. 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. Blood 100(3), 1014-1018 (2002). (Pubitemid 34832631)
39. 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. Haematologica 92(9), 1238-1241 (2007). (Pubitemid 350144183)
40. 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). •• Landmark follow-up paper describing the 5-year follow-up status of patients treated with imatinib for CML.
41. Baxter EJ, Scott LM, Campbell PJ et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365(9464), 1054-1061 (2005). •• Landmark paper that is among the first to describe the discovery of the JAK2V617F mutation in patients with BCR-ABL-negative myeloproliferative neoplasms (MPNs).
42. James C, Ugo V, Le Couedic JP et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434(7037), 1144-1148 (2005). •• Landmark paper, amongst the first to describe the discovery of the JAK2V617F mutation in patients with BCR-ABLnegative MPNs.
43. 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). •• Landmark paper that is among the first to describe the discovery of the JAK2V617F mutation in patients with BCR-ABL-negative MPNs.
44. 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 Cell 7(4), 387-397 (2005). •• Landmark paper that is among the first to describe the discovery of the JAK2V617F mutation in patients with BCR-ABLnegative MPNs.
45. Rane SG, Reddy EP. JAKs, STATs and Src kinases in hematopoiesis. Oncogene 21(21), 3334-3358 (2002).
46. Saharinen P, Silvennoinen O. The pseudokinase domain is required for suppression of basal activity of Jak2 and Jak3 tyrosine kinases and for cytokineinducible activation of signal transduction. J. Biol. Chem. 277(49), 47954-47963 (2002). (Pubitemid 36159324)
47. Benekli M, Baer MR, Baumann H, Wetzler M. Signal transducer and activator of transcription proteins in leukemias. Blood 101(8), 2940-2954 (2003). (Pubitemid 36857978)
48. Verstovsek S, Silver RT, Cross NC, Tefferi A. JAK2V617F mutational frequency in polycythemia vera: 100%, >90%, less? Leukemia 20(11), 2067 (2006). (Pubitemid 44614909)
49. 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. Leukemia 20(3), 534-535 (2006). (Pubitemid 43291762)
50. 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. Leukemia 20(6), 971-978 (2006). (Pubitemid 43797287)
51. Lee JW, Soung YH, Kim SY et al. JAK2 V617F mutation is uncommon in non-Hodgkin lymphomas. Leuk. Lymphoma 47(2), 313-314 (2006). (Pubitemid 43084572)
52. 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. Leukemia 20(1), 157-158 (2006).
53. 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). (Pubitemid 43899681)
54. 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. Blood 108(5), 1652-1660 (2006). (Pubitemid 44316134)
55. Shide K, Shimoda HK, Kumano T et al. Development of ET, primary myelofibrosis and PV in mice expressing JAK2 V617F. Leukemia 22(1), 87-95 (2008).
56. Vannucchi AM, Antonioli E, Guglielmelli P et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 110(3), 840-846 (2007). (Pubitemid 47267419)
57. 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. Blood 108(7), 2435-2437 (2006). (Pubitemid 44497530)
58. 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. Leukemia 20(6), 1055-1060 (2006). (Pubitemid 43797297)
59. McClure R, Mai M, Lasho T. Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia 20(1), 168-171 (2006).
60. Jones AV, Kreil S, Zoi K et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106(6), 2162-2168 (2005). (Pubitemid 41291734)
61. 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. Blood 109(3), 1316-1321 (2007). (Pubitemid 46220685)
62. 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). •• Landmark article describing the presence of JAK2 exon 12 mutations in patients with JAK2V617F-negative polycythemia vera.
63. Percy MJ, Scott LM, Erber WN et al. The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels. Haematologica 92(12), 1607-1614 (2007). (Pubitemid 350248239)
64. Pietra D, Li S, Brisci A et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 111(3), 1686-1689 (2008). (Pubitemid 351213460)
65. Jones AV, Cross NC, White HE, Green AR, Scott LM. Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis. Haematologica 93(10), 1560-1564 (2008).
66. Foster DC, Sprecher CA, Grant FJ et al. Human thrombopoietin: gene structure, cDNA sequence, expression, and chromosomal localization. Proc. Natl Acad. Sci. USA 91(26), 13023-13027 (1994).
67. 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). (Pubitemid 44125998)
68. Schnittger S, Bacher U, Haferlach C et al. Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis. Haematologica 94(1), 141-144 (2009).
69. Pardanani AD, Levine RL, Lasho T et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 108(10), 3472-3476 (2006). (Pubitemid 44776889)
70. 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. Blood 107(11), 4274-4281 (2006). (Pubitemid 43801351)
71. 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). (Pubitemid 44674079)
72. 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). •• Landmark paper describing the FIP1L1- PDGFRA gene rearrangement in clonal eosinophilic disorders, and their unique sensitivity to imatinib. (Pubitemid 36359296)
73. 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. Blood 103(2), 473-478 (2004). (Pubitemid 38140075)
74. Pardanani A, Elliott M, Reeder T et al. Imatinib for systemic mast-cell disease. Lancet 362(9383), 535-536 (2003).
75. 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. Leukemia 20(5), 827-832 (2006).
76. 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). (Pubitemid 34746539)
77. 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 Cancer 45(10), 950-956 (2006). (Pubitemid 44360182)
78. Vandenberghe P, Wlodarska I, Michaux L et al. Clinical and molecular features of FIP1L1-PDFGRA (+) chronic eosinophilic leukemias. Leukemia 18(4), 734-742 (2004). (Pubitemid 38500191)
79. Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF receptor b to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 77(2), 307-316 (1994). (Pubitemid 24138627)
80. Carroll M, Tomasson MH, Barker GF, Golub TR, Gilliland DG. The TEL/ platelet-derived growth factor b receptor (PDGF b R) fusion in chronic myelomonocytic leukemia is a transforming protein that self-associates and activates PDGF b R kinase-dependent signaling pathways. Proc. Natl Acad. Sci. USA 93(25), 14845-14850 (1996). (Pubitemid 26419057)
81. Abe A, Emi N, Tanimoto M, Terasaki H, Marunouchi T, Saito H. Fusion of the platelet-derived growth factor receptor b to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. Blood 90(11), 4271-4277 (1997). (Pubitemid 27508432)
82. 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). Leukemia 19(1), 27-30 (2005). (Pubitemid 40090071)
83. 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). (Pubitemid 38500599)
84. 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). (Pubitemid 38500594)
85. 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. Blood 102(12), 4187-4190 (2003). (Pubitemid 37487006)
86. 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. Blood 98(8), 2518-2525 (2001).
87. Ross TS, Bernard OA, Berger R, Gilliland DG. Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor b receptor (PDGFbR) in chronic myelomonocytic leukemia with t(5;7) (q33;q11.2). Blood 91(12), 4419-4426 (1998). (Pubitemid 28270286)
88. 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). Blood 97(12), 3910-3918 (2001).
89. Grand FH, Burgstaller S, Kuhr T et al. p53-Binding protein 1 is fused to the platelet-derived growth factor receptor b in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder. Cancer Res. 64(20), 7216-7219 (2004). (Pubitemid 39372054)
90. 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). (Pubitemid 28027887)
91. 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). (Pubitemid 28152262)
92. 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. USA 95(10), 5712-5717 (1998). (Pubitemid 28224161)
93. 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. Blood 90(8), 3136-3141 (1997). (Pubitemid 27444208)
94. 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. Blood 92(5), 1735-1742 (1998). (Pubitemid 28406879)
95. 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. Oncogene 16(7), 945-949 (1998). (Pubitemid 28102598)
96. 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. Blood 93(4), 1381-1389 (1999). (Pubitemid 29076154)
97. 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).
98. Sohal J, Chase A, Mould S et al. Identification of four new translocations involving FGFR1 in myeloid disorders. Genes Chromosomes Cancer 32(2), 155-163 (2001).
99. 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. Blood 98(13), 3778-3783 (2001).
100. 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 Cancer 32(4), 302-310 (2001). (Pubitemid 33055115)
101. 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). Blood 101(1), 286-288 (2003). (Pubitemid 36032714)
102. 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). (Pubitemid 36163760)
103. Grand EK, Grand FH, Chase AJ et al. Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. Genes Chromosomes Cancer 40(1), 78-83 (2004). (Pubitemid 38524624)
104. 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 Cancer 42(3), 320-325 (2005). (Pubitemid 40171196)
105. 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 Cancer 47(5), 379-385 (2008).
106. 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). (Pubitemid 129529023)
107. 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). (Pubitemid 33051802)
108. 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 Cell 5(3), 287-298 (2004). (Pubitemid 38402120)
109. 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. Blood 103(1), 309-312 (2004). (Pubitemid 38029953)
110. 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. Blood 108(7), 2366-2372 (2006). • Excellent article describing the different mutations seen in patients with mast cell diseases, and their responsiveness to therapy with tyrosine kinase inhibitors. (Pubitemid 44497521)
111. 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). (Pubitemid 17082588)
112. 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. Blood 91(8), 2731-2736 (1998). (Pubitemid 28227522)
113. 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). (Pubitemid 36945381)
114. Corless CL, Harrell P, Lacouture M et al. Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia. J. Mol. Diagn. 8(5), 604-612 (2006). (Pubitemid 44774160)
115. 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).
116. Tefferi A, Pardanani A, Lim KH et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 23(5), 905-911 (2009).
117. 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. Blood 111(4), 1774-1780 (2008).
118. 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). (Pubitemid 351307782)
119. 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 Cancer 45(10), 950-956 (2006). (Pubitemid 44360182)
120. 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). (Pubitemid 46889792)
121. Rosati R, La Starza R, Luciano L et al. TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia. Leukemia 20(9), 1623-1624 (2006). (Pubitemid 44264109)
122. Curtis C, Apperley JF, Dang R et al. The platelet-derived growth factor receptor b fuses to two distinct loci at 3p21 in imatinib responsive chronic eosinophilic leukemia. Blood 106(11), 909A (2005).
123. Lahortiga I, Akin C, Cools J et al. Activity of imatinib in systemic mastocytosis with chronic basophilic leukemia and a PRKG2-PDGFRB fusion. Haematologica 93(1), 49-56 (2008). (Pubitemid 351156151)
124. Walz C, Metzgeroth G, Haferlach C et al. Characterization of three new imatinibresponsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor b gene. Haematologica 92(2), 163-169 (2007).
125. Baxter EJ, Kulkarni S, Vizmanos JL et al. Novel translocations that disrupt the platelet-derived growth factor receptor b (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders. Br. J. Haematol. 120(2), 251-256 (2003). (Pubitemid 36194173)
126. La Starza R, Rosati R, Roti G et al. A new NDE1/PDGFRB fusion transcript underlying chronic myelomonocytic leukaemia in Noonan Syndrome. Leukemia 21(4), 830-833 (2007). (Pubitemid 46444578)
127. 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).
128. Guasch G, Mack GJ, Popovici C et al. FGFR1 is fused to the centrosomeassociated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). Blood 95(5), 1788-1796 (2000). (Pubitemid 30120844)
129. Walz C, Chase A, Schoch C et al. The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. Leukemia 19(6), 1005-1009 (2005). (Pubitemid 40862012)