Nicholas C P Cross

Summary

Affiliation: University of Southampton
Country: UK

Publications

  1. doi request reprint Standardisation of molecular monitoring for chronic myeloid leukaemia
    Nicholas C P Cross
    National Genetics Reference Laboratory Wessex, Salisbury NHS Foundation Trust, Salisbury SP2 8BJ, UK
    Best Pract Res Clin Haematol 22:355-65. 2009
  2. doi request reprint Genetic and epigenetic complexity in myeloproliferative neoplasms
    Nicholas C P Cross
    Faculty of Medicine, University of Southampton, and Wessex Regional Genetics Laboratory, Salisbury, United Kingdom
    Hematology Am Soc Hematol Educ Program 2011:208-14. 2011
  3. doi request reprint Fibroblast growth factor receptor and platelet-derived growth factor receptor abnormalities in eosinophilic myeloproliferative disorders
    Nicholas C P Cross
    Wessex Regional Genetics Laboratory, University of Southampton, Salisbury District Hospital, Salisbury, UK
    Acta Haematol 119:199-206. 2008
  4. pmc The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms
    Amy V Jones
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom
    Blood 115:4517-23. 2010
  5. doi request reprint JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
    Amy V Jones
    Wessex Regional Genetics Laboratory, Salisbury, UK
    Nat Genet 41:446-9. 2009
  6. pmc Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms
    Thomas Ernst
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, United Kingdom
    Haematologica 95:1473-80. 2010
  7. pmc Timing of acquisition of deletion 13 in plasma cell dyscrasias is dependent on genetic context
    Laura Chiecchio
    Leukaemia Research Fund UK Myeloma Forum Cytogenetics Group, Human Genetics Division, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK
    Haematologica 94:1708-13. 2009
  8. doi request reprint Frequent upregulation of MYC in plasma cell leukemia
    Laura Chiecchio
    Leukaemia Research Fund UK Myeloma Forum Cytogenetics Group, Human Genetics Division, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, UK
    Genes Chromosomes Cancer 48:624-36. 2009
  9. doi request reprint Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
    Thomas Ernst
    School of Medicine, University of Southampton, UK
    Nat Genet 42:722-6. 2010
  10. ncbi request reprint Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia
    Claire E Curtis
    Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, UK
    Br J Haematol 138:77-81. 2007

Detail Information

Publications73

  1. doi request reprint Standardisation of molecular monitoring for chronic myeloid leukaemia
    Nicholas C P Cross
    National Genetics Reference Laboratory Wessex, Salisbury NHS Foundation Trust, Salisbury SP2 8BJ, UK
    Best Pract Res Clin Haematol 22:355-65. 2009
    ....
  2. doi request reprint Genetic and epigenetic complexity in myeloproliferative neoplasms
    Nicholas C P Cross
    Faculty of Medicine, University of Southampton, and Wessex Regional Genetics Laboratory, Salisbury, United Kingdom
    Hematology Am Soc Hematol Educ Program 2011:208-14. 2011
    ..This review summarizes the established facts relating to the genetics of MPNs, but highlights recent findings and areas of controversy...
  3. doi request reprint Fibroblast growth factor receptor and platelet-derived growth factor receptor abnormalities in eosinophilic myeloproliferative disorders
    Nicholas C P Cross
    Wessex Regional Genetics Laboratory, University of Southampton, Salisbury District Hospital, Salisbury, UK
    Acta Haematol 119:199-206. 2008
    ....
  4. pmc The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms
    Amy V Jones
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom
    Blood 115:4517-23. 2010
    ..No difference in sequence, splicing, or expression of JAK2 was found on 46/1 compared with other haplotypes, suggesting that any functional difference of JAK2 on 46/1, if it exists, must be relatively subtle...
  5. doi request reprint JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
    Amy V Jones
    Wessex Regional Genetics Laboratory, Salisbury, UK
    Nat Genet 41:446-9. 2009
    ..7; 95% CI = 3.1-4.3) and provides a model whereby a constitutional genetic factor is associated with an increased risk of acquiring a specific somatic mutation...
  6. pmc Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms
    Thomas Ernst
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, United Kingdom
    Haematologica 95:1473-80. 2010
    ..We hypothesized that hitherto unrecognized, cytogenetically cryptic tyrosine kinase fusions may be common in non-classical or atypical myeloproliferative neoplasms and related myelodysplastic/myeloproliferative neoplasms...
  7. pmc Timing of acquisition of deletion 13 in plasma cell dyscrasias is dependent on genetic context
    Laura Chiecchio
    Leukaemia Research Fund UK Myeloma Forum Cytogenetics Group, Human Genetics Division, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK
    Haematologica 94:1708-13. 2009
    ..We investigated these aspects in a large series of patients...
  8. doi request reprint Frequent upregulation of MYC in plasma cell leukemia
    Laura Chiecchio
    Leukaemia Research Fund UK Myeloma Forum Cytogenetics Group, Human Genetics Division, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, UK
    Genes Chromosomes Cancer 48:624-36. 2009
    ..We conclude that MYC dysregulation by complex mechanisms is one of the major molecular events in the oncogenesis of PCL...
  9. doi request reprint Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
    Thomas Ernst
    School of Medicine, University of Southampton, UK
    Nat Genet 42:722-6. 2010
    ..Notably, the mutations we identified resulted in premature chain termination or direct abrogation of histone methyltransferase activity, suggesting that EZH2 acts as a tumor suppressor for myeloid malignancies...
  10. ncbi request reprint Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia
    Claire E Curtis
    Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, UK
    Br J Haematol 138:77-81. 2007
    ..In conclusion, PDGFRA fuses to diverse partner genes in myeloid disorders. Identification of these fusions is important as they are particularly sensitive to imatinib...
  11. doi request reprint Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms
    Claire Hidalgo-Curtis
    University of Southampton, UK
    Br J Haematol 148:268-73. 2010
    ..We conclude that PDGFRB fuses to diverse partner genes in atypical myeloproliferative neoplasms (MPNs). Although very rare, identification of these fusions is critical for proper management of affected individuals...
  12. doi request reprint Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms
    Joannah Score
    Faculty of Medicine, University of Southampton, Southampton, United Kingdom
    Blood 119:1208-13. 2012
    ..All 3 SUZ12 mutations tested and the EED mutation reduced PRC2 histone methyltransferase activity in vitro, demonstrating that PRC2 function may be compromised in myeloid disorders by mutation of distinct genes...
  13. ncbi request reprint p53-Binding protein 1 is fused to the platelet-derived growth factor receptor beta in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder
    Francis H Grand
    Wessex Regional Genetics Laboratory, Salisbury and Human Genetics Division, University of Southampton, Southampton, United Kingdom
    Cancer Res 64:7216-9. 2004
    ..We conclude that TP53BP1-PDGFRB is a novel imatinib target in atypical chronic myeloid leukemia...
  14. ncbi request reprint Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha
    Amy V Jones
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, United Kingdom
    Blood 107:3339-41. 2006
    ..Our data indicate that, although PV patients may benefit from imatinib or rIFNalpha, molecular responses are relatively modest...
  15. pmc The t(14;20) is a poor prognostic factor in myeloma but is associated with long-term stable disease in monoclonal gammopathies of undetermined significance
    Fiona M Ross
    LRF UKMF Cytogenetic Database, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury, Wilts, UK
    Haematologica 95:1221-5. 2010
    ..None of the associated genetic abnormalities helped to predict for progression from MGUS or smoldering myeloma...
  16. pmc A polymorphism associated with STAT3 expression and response of chronic myeloid leukemia to interferon α
    Sebastian Kreil
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Haematologica 95:148-52. 2010
    ..Levels of STAT3 mRNA correlated with rs6503691 genotype (P<0.001) as assessed by real time quantitative PCR and therefore we conclude that rs6503691 is associated with the STAT3 expression levels and response of CML patients to IFN...
  17. doi request reprint Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms
    Francis H Grand
    Wessex Regional Genetics Laboratory, Salisbury, United Kingdom
    Blood 113:6182-92. 2009
    ..We conclude that acquired, transforming CBL mutations are a novel and widespread pathogenetic abnormality in morphologically related, clinically aggressive MPNs...
  18. ncbi request reprint Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disorders
    E Joanna Baxter
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK
    Br J Haematol 120:251-6. 2003
    ..Our data indicate that several PDGFRB partner genes remain to be characterized...
  19. ncbi request reprint Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes
    Helen E White
    National Genetics Reference Laboratory Wessex, Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom
    Clin Chem 53:1960-2. 2007
    ..Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus differentiates the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS...
  20. doi request reprint 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
    Claire Hidalgo-Curtis
    Wessex Regional Genetics Laboratory, Salisbury District Hospital and Human Genetics Division, University of Southampton, Southampton, United Kingdom
    Genes Chromosomes Cancer 47:379-85. 2008
    ..Our findings thus identify a group of proteins that are important for pre-mRNA processing as fusion partners for tyrosine kinases in hematological malignancies...
  21. ncbi request reprint Heterogeneous prognostic impact of derivative chromosome 9 deletions in chronic myelogenous leukemia
    Sebastian Kreil
    Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom
    Blood 110:1283-90. 2007
    ..007), age (P = .018), and spleen enlargement (P < .001) were significant independent indicators of survival and confirmed that only deletions spanning the ABL/BCR breakpoint were associated with an adverse prognosis (P = .039)...
  22. ncbi request reprint Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta
    Jane F Apperley
    Department of Haematology, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
    N Engl J Med 347:481-7. 2002
    ..The tyrosine kinase inhibitor imatinib mesylate specifically inhibits ABL, PDGFR, and KIT kinases and has impressive clinical efficacy in BCR-ABL-positive chronic myeloid leukemia...
  23. ncbi request reprint Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome
    Andrew Chase
    Wessex Regional Genetics Laboratory, Salisbury and Human Genetics Division, University of Southampton, Southampton, United Kingdom
    Blood 110:3729-34. 2007
    ..This work provides evidence that targeted therapy may be beneficial for patients with EMS...
  24. ncbi request reprint A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy
    Francis H Grand
    Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, UK
    Exp Hematol 35:1723-7. 2007
    ..To determine the consequences and significance of an acquired 46XX,t(2;13;2;21)(p13;q12;q33;q11.2) in atypical chronic myeloid leukemia (aCML)...
  25. pmc Ruxolitinib as potential targeted therapy for patients with JAK2 rearrangements
    Andrew Chase
    Faculty of Medicine, University of Southampton, Southampton, UK
    Haematologica 98:404-8. 2013
    ..Our data, therefore, provide evidence that ruxolitinib is a promising therapy for treatment of patients with JAK2 fusion genes...
  26. ncbi request reprint A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy
    Ling Yan Zhang
    Wessex Regional Genetics Laboratory, Salisbury, UK
    Leuk Res 30:373-8. 2006
    ..Mutation analysis of the KIT coding region in this family identified a novel A>T mutation at nucleotide 1547 [K509I] in exon 9 in both of the affected patients...
  27. pmc Loss of 1p and rearrangement of MYC are associated with progression of smouldering myeloma to myeloma: sequential analysis of a single case
    Laura Chiecchio
    Leukaemia Research Fund UK Myeloma Forum Cytogenetics Group, Human Genetics Division, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts, UK
    Haematologica 94:1024-8. 2009
    ..This case report provides a unique insight into the mechanisms of disease progression from smouldering multiple myeloma to multiple myeloma...
  28. ncbi request reprint Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome
    Helen E White
    National Genetics Reference Laboratory Wessex, Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom
    Clin Chem 52:1005-13. 2006
    ..Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus can differentiate the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS...
  29. doi request reprint Recurrent CEP85L-PDGFRB fusion in patient with t(5;6) and imatinib-responsive myeloproliferative neoplasm with eosinophilia
    Nils Winkelmann
    Wessex Regional Genetics Laboratory, Salisbury, UK
    Leuk Lymphoma 54:1527-31. 2013
    ..Minimal residual disease screening over 3 years with nested PCR failed to detect CEP85L-PDGFRB mRNA or genomic DNA, confirming a long-term molecular remission on imatinib...
  30. doi request reprint Establishment and validation of analytical reference panels for the standardization of quantitative BCR-ABL1 measurements on the international scale
    Helen E White
    National Genetics Reference Laboratory Wessex, Salisbury District Hospital, Salisbury, UK
    Clin Chem 59:938-48. 2013
    ..Our goal was to establish and validate reference panels to mitigate the interlaboratory imprecision of quantitative BCR-ABL1 measurements and to facilitate global standardization on the international scale (IS)...
  31. doi request reprint Acquired uniparental disomy in myeloproliferative neoplasms
    Joannah Score
    Faculty of Medicine, University of Southampton, Southampton, UK
    Hematol Oncol Clin North Am 26:981-91. 2012
    ....
  32. pmc TFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individuals
    Andrew Chase
    Wessex Regional Genetics Laboratory, Salisbury, Wiltshire, UK
    Haematologica 95:20-6. 2010
    ..Here we describe the first example of a human polymorphic in-frame fusion of two unrelated genes associated with a copy number variant...
  33. ncbi request reprint Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene
    David J Bunyan
    National Genetics Reference Laboratory Wessex, Salisbury Hospital NHS Trust, Salisbury, Wiltshire, SP2 8BJ
    Mol Biotechnol 35:135-40. 2007
    ..This approach may be adapted for other syndromes with well defined common point mutations or polymorphisms...
  34. pmc Ponatinib as targeted therapy for FGFR1 fusions associated with the 8p11 myeloproliferative syndrome
    Andrew Chase
    Wessex Regional Genetics Laboratory, Salisbury, UK
    Haematologica 98:103-6. 2013
    ..In one evaluable patient, ponatinib specifically reduced numbers of FGFR1-fusion gene positive colonies. Ponatinib, therefore, shows considerable promise for the treatment of patients with 8p11 myeloproliferative syndrome...
  35. doi request reprint Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis
    Amy V Jones
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Haematologica 93:1560-4. 2008
    ..High resolution melting analysis is a rapid, sensitive and high-throughput technique that is suitable for screening for JAK2 exon 12 mutations...
  36. ncbi request reprint Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome
    Effie K Grand
    Wessex Regional Genetics Laboratory, Salisbury, UK
    Genes Chromosomes Cancer 40:78-83. 2004
    ..The presence of the chimeric gene was confirmed by RT-PCR, genomic DNA PCR, and FISH. These data further support the central role of deregulated FGFR1 in the pathogenesis of EMS...
  37. ncbi request reprint The t(4;22)(q12;q11) in atypical chronic myeloid leukaemia fuses BCR to PDGFRA
    E Joanna Baxter
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK
    Hum Mol Genet 11:1391-7. 2002
    ..Our findings indicate that apparently simple cytogenetic variants of t(9;22) do not always mask a cryptic BCR-ABL fusion, even when found in association with clinical and haematological indications of CML...
  38. ncbi request reprint Signal transduction therapy in haematological malignancies: identification and targeting of tyrosine kinases
    Andrew Chase
    Wessex Regional Genetics Laboratory, Salisbury and Human Genetics Division, University of Southampton, Salisbury District Hospital, Salisbury SP2 8BJ, U K
    Clin Sci (Lond) 111:233-49. 2006
    ..Although the development of resistance has been problematic, particularly in aggressive disease, the development of novel inhibitors and combination with other forms of therapy shows promise...
  39. ncbi request reprint NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia
    Francis H Grand
    Wessex Regional Genetics Laboratory, Salisbury, UK
    Leuk Res 29:1469-72. 2005
    ..This is the first description of NUP98-LEDGF in CML and strengthens the association between disease progression in and NUP98 abnormalities...
  40. ncbi request reprint Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
    Amy V Jones
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, United Kingdom
    Blood 106:2162-8. 2005
    ..We conclude that V617F is widespread in MPDs. Detection of this acquired mutation is likely to have a major impact on the way patients with MPD are diagnosed, as well as serving as an obvious target for signal transduction therapy...
  41. doi request reprint Aberrations of EZH2 in cancer
    Andrew Chase
    Wessex Regional Genetics Laboratory, Salisbury, and Human Genetics Division, Faculty of Medicine, University of Southampton, Southampton, United Kingdom
    Clin Cancer Res 17:2613-8. 2011
    ..Furthermore, synergistic effects are seen for combined treatment with DNA demethylating agents and histone deacetylation inhibitors, opening up the possibility of refined epigenetic treatments in the future...
  42. doi request reprint Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia
    Thomas Ernst
    University of Southampton School of Medicine, Southampton, UK
    Br J Haematol 153:43-6. 2011
    ..The identification of ALL with rare ABL1 fusion partners is important because the leukaemia may respond to tyrosine kinase inhibitors in the same way as ALL patients with a classical BCR-ABL1 fusion gene...
  43. ncbi request reprint Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta
    E Joanna Steer
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK
    Acta Haematol 107:113-22. 2002
    ..With the advent of targeted signal transduction therapy, patients with rearrangement of PDGFRB might be better classified as a distinct subgroup of MPD/MDS...
  44. ncbi request reprint BCR-ABL-negative chronic myeloid leukemia
    Sonja Burgstaller
    Wessex Regional Genetics Laboratory, University of Southampton, Salisbury NHS Foundation Trust, Salisbury SP2 8BJ, UK
    Curr Hematol Malig Rep 2:75-82. 2007
    ..In addition, new molecular findings need to be incorporated into disease classification systems...
  45. ncbi request reprint Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing
    Helen E White
    National Genetics Reference Laboratory Wessex, Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom
    Genet Test 9:190-9. 2005
    ..The MELAS A3243G mutation was detected reliably at a level of 1% heteroplasmy. We conclude that Pyrosequencing is a rapid and robust method for detecting heteroplasmic mitochondrial point mutations...
  46. doi request reprint Establishment of the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA
    Helen E White
    National Genetics Reference Laboratory Wessex, Salisbury District Hospital, Salisbury, UK
    Blood 116:e111-7. 2010
    ....
  47. doi request reprint Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning
    Christopher J Mattocks
    National Genetics Reference Laboratory Wessex, Salisbury, UK
    Clin Chem 56:593-602. 2010
    ..Currently, most reported methods lack one or more of these characteristics. We describe the optimization and validation of conformation-sensitive capillary electrophoresis (CSCE) for diagnostic mutation scanning...
  48. ncbi request reprint 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
    Jose L Vizmanos
    Department of Genetics, University of Navarra, Pamplona, Spain
    Cancer Res 64:2673-6. 2004
    ..After treatment with imatinib, the patient achieved hematological and cytogenetical remission, but NIN-PDGFRB mRNA remained detectable by reverse transcription-PCR...
  49. ncbi request reprint A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome
    Jan Cools
    Brigham and Women s Hospital and Harvard Medical School, Boston, USA
    N Engl J Med 348:1201-14. 2003
    ..Recent reports of responses to imatinib in patients with the syndrome suggested that an activated kinase such as ABL, platelet-derived growth factor receptor (PDGFR), or KIT, all of which are inhibited by imatinib, might be the cause...
  50. ncbi request reprint CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy
    Animesh Pardanani
    Division of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Blood 102:3093-6. 2003
    ..Screening for the FIP1L1-PDGFRA rearrangement and Asp816Val mutation will advance rational therapy decisions in SMCD...
  51. ncbi request reprint Genomic anatomy of the specific reciprocal translocation t(15;17) in acute promyelocytic leukemia
    Andreas Reiter
    III Medizinische Universitätsklinik, Klinikum Mannheim, Fakultät für Klinische Medizin der Universität Heidelberg, Germany
    Genes Chromosomes Cancer 36:175-88. 2003
    ..These findings are consistent with the hypothesis that the t(15;17) occurs by nonhomologous recombination of DNA after processing of the double-strand breaks by a dysfunctional DNA damage-repair mechanism...
  52. ncbi request reprint Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders
    Animesh Pardanani
    Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Blood 101:3391-7. 2003
    ..Myocardial biopsy revealed eosinophilic infiltration and degranulation, and the cardiogenic shock was reversed with the prompt institution of corticosteroid therapy...
  53. ncbi request reprint Lack of response to imatinib mesylate in a patient with accelerated phase myeloproliferative disorder with rearrangement of the platelet-derived growth factor receptor beta-gene
    Jean Noel Bastie
    Haematologica 89:1263-4. 2004
    ..We used imatinib to treat a 49-year old man with atypical CMD in accelerated phase and the H4 (D10S170)-PDGFRB fusion gene. After 3 months of treatment, we observed grade 4 hematologic toxicity and a lack of response...
  54. ncbi request reprint 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
    Jelena V Jovanovic
    Department of Medical and Molecular Genetics, Guy s Hospital, King s College London, UK
    Blood 109:4635-40. 2007
    ....
  55. ncbi request reprint The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2
    Andreas Reiter
    III Medizinische Universitätsklinik, Fakultät für Klinische Medizin Mannheim der Universität Heidelberg, Mannheim, Germany
    Cancer Res 65:2662-7. 2005
    ..We conclude that human autoantigen pericentriolar material (PCM1)-JAK2 is a novel, recurrent fusion gene in hematologic malignancies. Patients with PCM1-JAK2 disease are attractive candidates for targeted signal transduction therapy...
  56. ncbi request reprint Characterization of three new imatinib-responsive fusion genes in chronic myeloproliferative disorders generated by disruption of the platelet-derived growth factor receptor beta gene
    Christoph Walz
    III Medizinische Universitätsklinik, Medizinische Fakultät Mannheim der Universität Heidelberg, Wiesbadener Str 7 11 68305 Mannheim, Germany
    Haematologica 92:163-9. 2007
    ....
  57. ncbi request reprint Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders
    Marianna David
    Department of Haematology, University of Pecs, Pecs, Hungary
    Blood 109:61-4. 2007
    ..Our data show that durable hematologic and cytogenetic responses are achieved with imatinib in patients with PDGFRB fusion-positive, BCR-ABL-negative CMPDs...
  58. ncbi request reprint JAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia
    Alwin Krämer
    Department of Internal Medicine V, University of Heidelberg, Heidelberg Germany
    Lancet Oncol 8:658-60. 2007
  59. ncbi request reprint Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA fusion gene
    Christoph Walz
    III Medizinische Universitätsklinik, Fakultät für Klinische Medizin Mannheim der Universität Heidelberg, Mannheim, Germany
    Genes Chromosomes Cancer 45:950-6. 2006
    ....
  60. ncbi request reprint Idiopathic hypereosinophilic syndrome in children: report of a 7-year-old boy with FIP1L1-PDGFRA rearrangement
    Susana Rives
    Hematology Department, Hospital Sant Joan de Deu, Barcelona, Spain
    J Pediatr Hematol Oncol 27:663-5. 2005
    ..The authors describe the clinical course of three children with HES in whom FIP1L1-PDGFRA fusion gene was studied and report the first child with this rearrangement...
  61. ncbi request reprint DNA topoisomerase II in therapy-related acute promyelocytic leukemia
    Anita R Mistry
    Department of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, London
    N Engl J Med 352:1529-38. 2005
    ..We studied acute promyelocytic leukemia (APL) with the t(15;17) translocation that developed after treatment of breast or laryngeal cancer with chemotherapeutic agents that poison topoisomerase II...
  62. ncbi request reprint MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP
    Kenji Deguchi
    Division of Hematology and Oncology, Brigham and Women s Hospital and Harvard Medical School, Harvard Institutes, of Medicine, 4 Blackfan Circle, Room 420, Boston, MA 02115, USA
    Cancer Cell 3:259-71. 2003
    ..These results indicate that nucleosomal targeting by MOZ and recruitment of CBP by TIF2 are critical requirements for MOZ-TIF2 transformation and indicate that MOZ gain of function contributes to leukemogenesis...
  63. ncbi request reprint Tyrosine kinases as therapeutic targets in BCR-ABL negative chronic myeloproliferative disorders
    Andreas Reiter
    III Medizinische Universitätsklinik, Fakultät für Klinische Medizin Mannheim der Universität Heidelberg, Wiesbadener Str 7 11, 68305 Mannheim, Germany
    Curr Drug Targets 8:205-16. 2007
    ..Other inhibitors under development are promising candidates for effective treatment of patients with constitutive activation of JAK2, FGFR1 and imatinib-resistant KIT mutants...
  64. ncbi request reprint A further case of acute myeloid leukaemia with inv(8)(p11q13) and MOZ-TIF2 fusion
    Atto Billio
    Department of Haematology, General Hospital S Maurizio, Bolzano, Italy
    Haematologica 87:ECR15. 2002
  65. pmc Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders
    Qiaofang Chen
    Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, 1300 York Ave, New York, NY 10021, USA
    J Mol Diagn 9:272-6. 2007
    ..The assay is fast and easy to perform, and no special equipment other than thermocyclers is required. All these features make the assay readily and broadly applicable in clinical molecular diagnostic laboratories...
  66. ncbi request reprint Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations
    Sergei Roumiantsev
    Children s Hospital, 330 Longwood Avenue, Boston, MA 02115, USA
    Cancer Cell 5:287-98. 2004
    ..These results implicate different signaling pathways originating from both kinase and fusion partner in the pathogenesis of CML and EMS...
  67. ncbi request reprint Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple myeloma
    Matthew W Jenner
    Section of Haemato oncology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK
    Blood 110:3291-300. 2007
    ..These 2 genes and their corresponding pathways provide an important insight into the potential mechanisms by which 16q LOH confers poor prognosis...
  68. ncbi request reprint Der(6)t(1;6)(q21-23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia
    David Dingli
    Division of Hematology and Department of Internal Medicine, Mayo Clinic Rochester, MN, USA
    Br J Haematol 130:229-32. 2005
    ..In a preliminary fluorescence in situ hybridization study, the breakpoints on chromosome 6 in two additional cases were found to be telomeric to the gene for 51 kDa FK506-binding protein (FKBP51)...
  69. pmc Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results
    Timothy Hughes
    Institute of Medical and Veterinary Science, Adelaide, Australia
    Blood 108:28-37. 2006
    ..We recognize that our recommendations are provisional and will require revision as new evidence emerges...
  70. ncbi request reprint Critical role of STAT5 activation in transformation mediated by ZNF198-FGFR1
    Carol Heath
    Department of Haematology, Imperial College Faculty of Medicine, Hammersmith Hospital, W12 ONN London, UK
    J Biol Chem 279:6666-73. 2004
    ..These findings suggest a critical role of STAT5 activation in transformation mediated by ZNF198-FGFR1...
  71. ncbi request reprint Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation
    Donald P Mc Lornan
    Haematologica 90:1696-7. 2005
    ..It remains to be established what role this mutation, which gives cells a proliferative advantage, might play in the pathogenesis and prognosis of rare atypical MPD...
  72. ncbi request reprint Evaluation of JAK2 in B and T cell neoplasms: identification of JAK2(V617F) mutation of undetermined significance (JMUS) in the bone marrow of three individuals
    Y Lynn Wang
    Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, NY 10021, USA
    Acta Haematol 118:209-14. 2007
    ..The JAK2(V617F) mutation, which has been found in patients with myeloproliferative disorders (MPD), has not yet been evaluated in lymphoproliferative disorders by any adequately sensitive techniques...
  73. ncbi request reprint Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases
    Jose L Vizmanos
    Department of Genetics, School of Science, University of Navarra, Pamplona, Spain
    Hematol J 5:534-7. 2004
    ..These cases illustrate the clinical heterogeneity observed in patients with FGFR1 rearrangements and suggest that constitutively activated tyrosine kinases may be more widespread in MPDs...