Torsten Haferlach

Summary

Publications

  1. pmc Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
    T Haferlach
    Munich Leukemia Laboratory MLL, Munich, Germany
    Leukemia 28:241-7. 2014
  2. doi request reprint Amount of bone marrow blasts is strongly correlated to NPM1 and FLT3-ITD mutation rate in AML with normal karyotype
    Torsten Haferlach
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Leuk Res 36:51-8. 2012
  3. doi request reprint Molecular genetics in myelodysplastic syndromes
    Torsten Haferlach
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Leuk Res 36:1459-62. 2012
  4. doi request reprint Toward a comprehensive prognostic scoring system in chronic lymphocytic leukemia based on a combination of genetic parameters
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 49:851-9. 2010
  5. pmc Frequency and prognostic impact of CEBPA proximal, distal and core promoter methylation in normal karyotype AML: a study on 623 cases
    Annette Fasan
    MLL Munich Leukemia Laboratory, Munich, Germany
    PLoS ONE 8:e54365. 2013
  6. doi request reprint Three novel cytogenetically cryptic EVI1 rearrangements associated with increased EVI1 expression and poor prognosis identified in 27 acute myeloid leukemia cases
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 51:1079-85. 2012
  7. doi request reprint Multiparameter flow cytometry reveals myelodysplasia-related aberrant antigen expression in myelodysplastic/myeloproliferative neoplasms
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Munich 81377, Germany
    Cytometry B Clin Cytom 84:194-7. 2013
  8. doi request reprint Gene expression of BAALC, CDKN1B, ERG, and MN1 adds independent prognostic information to cytogenetics and molecular mutations in adult acute myeloid leukemia
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 51:257-65. 2012
  9. doi request reprint The molecular profile of adult T-cell acute lymphoblastic leukemia: mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Genes Chromosomes Cancer 52:410-22. 2013
  10. doi request reprint CEBPA double-mutated acute myeloid leukaemia harbours concomitant molecular mutations in 76·8% of cases with TET2 and GATA2 alterations impacting prognosis
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Munich, Germany
    Br J Haematol 161:649-58. 2013

Collaborators

Detail Information

Publications67

  1. pmc Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
    T Haferlach
    Munich Leukemia Laboratory MLL, Munich, Germany
    Leukemia 28:241-7. 2014
    ..001 each). Thus, large-scale genetic and molecular profiling of multiple target genes is invaluable for subclassification and prognostication in MDS patients. ..
  2. doi request reprint Amount of bone marrow blasts is strongly correlated to NPM1 and FLT3-ITD mutation rate in AML with normal karyotype
    Torsten Haferlach
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Leuk Res 36:51-8. 2012
    ..Mean WBC count was highest in NPM1-mut/FLT3-ITD-positive and lowest in NPM1-wildtype/FLT3-ITD-negative patients (p<0.0001); similar for BM blasts. Therefore, FLT3-ITD and NPM1mut might synergistically stimulate blast proliferation...
  3. doi request reprint Molecular genetics in myelodysplastic syndromes
    Torsten Haferlach
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Leuk Res 36:1459-62. 2012
    ..Without doubt, mutations in newly depicted genes, including genes involved in the spliceosome, will be included in the management of MDS patients...
  4. doi request reprint Toward a comprehensive prognostic scoring system in chronic lymphocytic leukemia based on a combination of genetic parameters
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 49:851-9. 2010
    ..The proposed scoring systems for OS and TTT based on a combination of genetic markers improve the separation of prognostic subgroups in CLL already early in the course of the disease...
  5. pmc Frequency and prognostic impact of CEBPA proximal, distal and core promoter methylation in normal karyotype AML: a study on 623 cases
    Annette Fasan
    MLL Munich Leukemia Laboratory, Munich, Germany
    PLoS ONE 8:e54365. 2013
    ..In conclusion, the presence of aberrant CEBPA PM is associated with distinct biological features but impact on outcome is weak...
  6. doi request reprint Three novel cytogenetically cryptic EVI1 rearrangements associated with increased EVI1 expression and poor prognosis identified in 27 acute myeloid leukemia cases
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 51:1079-85. 2012
    ..Screening for cryptic EVI1 rearrangements by FISH may be particularly appropriate in CN-AML with elevated EVI1 expression or in AML/MDS patients with chromosome 7 abnormalities...
  7. doi request reprint Multiparameter flow cytometry reveals myelodysplasia-related aberrant antigen expression in myelodysplastic/myeloproliferative neoplasms
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Munich 81377, Germany
    Cytometry B Clin Cytom 84:194-7. 2013
    ..Within the myelodysplastic/myeloproliferative neoplasm (MDS/MPN) category of the WHO (2008), only chronic myelomonocytic leukemia was so far evaluated by multiparameter flow cytometry (MFC)...
  8. doi request reprint Gene expression of BAALC, CDKN1B, ERG, and MN1 adds independent prognostic information to cytogenetics and molecular mutations in adult acute myeloid leukemia
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 51:257-65. 2012
    ..4%, 56.4%, 34.0%, 12.6%; mEFS: n.r., 18.1 months, 8.7 months, 2.5 months). The impact on outcome of this score was independent of NPM1mut/FLT3-ITD- status, MLL-PTD, and age...
  9. doi request reprint The molecular profile of adult T-cell acute lymphoblastic leukemia: mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Genes Chromosomes Cancer 52:410-22. 2013
    ..027) and DNMT3A (P = 0.005) mutations with shorter overall survival was observed. In conclusion, RUNX1 and DNMT3A are frequently mutated in T-ALL and are associated with poor prognosis in early T-ALL...
  10. doi request reprint CEBPA double-mutated acute myeloid leukaemia harbours concomitant molecular mutations in 76·8% of cases with TET2 and GATA2 alterations impacting prognosis
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Munich, Germany
    Br J Haematol 161:649-58. 2013
    ..Further, a distinct gene expression profile (GEP) was confirmed for CEBPAdm versus CEBPAsm or CEBPA wild-type cases while no significant changes in GEP were observed related to additional mutations within the CEBPAdm AML...
  11. pmc Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow
    Susanne Schnittger
    MLL Munich Leukemia Laboratory, Munich, Germany
    Haematologica 97:1582-5. 2012
    ..In cases in which a myeloproliferative neoplasm cannot be established, analysis for TET2, CBL and EZH2 mutations may be indicated...
  12. pmc Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Munich, Germany
    J Mol Diagn 13:129-36. 2011
    ..In conclusion, next-generation amplicon sequencing enables the highly sensitive detection of molecular mutations and is a feasible assay for routine assessment of GC-rich content amplicons...
  13. doi request reprint ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 51:328-37. 2012
    ..Our study confirms the variety of ETV6 rearrangements in AML, MDS, and MPNs often in association with other genetic events. Prognosis of ETV6 rearranged de novo AML seems to be intermediate, which should be independently confirmed...
  14. doi request reprint Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Munich, Germany
    Blood 118:6153-63. 2011
    ..Finally, BCOR mutations tended to be associated with an inferior outcome in a cohort of 422 CN-AML patients (25.6% vs 56.7% overall survival at 2 years; P = .032). Our results for the first time implicate BCOR in CN-AML pathogenesis...
  15. ncbi request reprint Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact
    Ulrike Bacher
    MLL Munich Leukemia Laboratory, Munich, Germany
    Br J Haematol 164:822-33. 2014
    ..U2AF1mut is overrepresented in MDS with del(20q), and ASXL1mut is prognostically adverse...
  16. doi request reprint Multilineage dysplasia (MLD) in acute myeloid leukemia (AML) correlates with MDS-related cytogenetic abnormalities and a prior history of MDS or MDS/MPN but has no independent prognostic relevance: a comparison of 408 cases classified as "AML not otherwis
    Miriam Miesner
    MLL Munich Leukemia Laboratory, Munich, Germany
    Blood 116:2742-51. 2010
    ..Thus, MLD alone showed no independent clinical effect, whereas cytogenetics and MDS history were prognostically relevant...
  17. doi request reprint Biological and clinical characterization of recurrent 14q deletions in CLL and other mature B-cell neoplasms
    Lena Reindl
    Munich Leukemia Laboratory, Munich Interdisciplinary Clinic for Stem Cell Transplantation, Max Lebsche Platz 31, Munich, Germany
    Br J Haematol 151:25-36. 2010
    ..80·1 months, P = 0·015). In conclusion, the del(14q) is a rare recurrent alteration in diverse mature B-cell neoplasms, shows variable size but distinct clustering of breakpoints, and is associated with short time to treatment...
  18. pmc CDKN1B, encoding the cyclin-dependent kinase inhibitor 1B (p27), is located in the minimally deleted region of 12p abnormalities in myeloid malignancies and its low expression is a favorable prognostic marker in acute myeloid leukemia
    Claudia Haferlach
    MLL, Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Haematologica 96:829-36. 2011
    ..Alterations of the short arm of chromosome 12 (12p) occur in various hematologic malignancies and ETV6 and CDKN1B, which are located on 12p, have been implicated as leukemogenic genes of interest...
  19. ncbi request reprint Cytogenetic profile in de novo acute myeloid leukemia with FAB subtypes M0, M1, and M2: a study based on 652 cases analyzed with morphology, cytogenetics, and fluorescence in situ hybridization
    Mirjam Klaus
    Department of Internal Medicine III, Laboratory for Leukemia Diagnostics, Ludwig Maximilians University, Marchioninistrasse 15, 81377 Munich, Germany
    Cancer Genet Cytogenet 155:47-56. 2004
    ..In conclusion, t(8;21), +11, +13, and +14 are strongly associated with AML M0, M1, and M2. The FISH screening analyses identified abnormalities in an additional 3% in normal karyotypes...
  20. doi request reprint Diversity of the juxtamembrane and TKD1 mutations (exons 13-15) in the FLT3 gene with regards to mutant load, sequence, length, localization, and correlation with biological data
    Susanne Schnittger
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 51:910-24. 2012
    ..In conclusion, FLT3-mutations are extremely heterogenous with mutation load being the most relevant parameter...
  21. doi request reprint Robustness of amplicon deep sequencing underlines its utility in clinical applications
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Munich, Germany
    J Mol Diagn 15:473-84. 2013
    ..This assay detects residual disease or identifies mutations with predictive relevance to direct treatment strategies. ..
  22. doi request reprint Monoclonal B-cell lymphocytosis is closely related to chronic lymphocytic leukaemia and may be better classified as early-stage CLL
    Wolfgang Kern
    MLL Munich Leukaemia Laboratory, Max Lebsche Platz 31, Munich, Germany
    Br J Haematol 157:86-96. 2012
    ..These data emphasize a close relationship between MBL and CLL regarding clinically relevant parameters and provide no evidence to strictly separate these entities by a distinct threshold of clonal B-cells...
  23. doi request reprint A novel hierarchical prognostic model of AML solely based on molecular mutations
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Munich, Germany
    Blood 120:2963-72. 2012
    ..9%); and (5) very unfavorable: TP53 mutation (n = 80; OS at 3 years: 0%; P < .001). This comprehensive molecular characterization provides a more powerful model for prognostication than cytogenetics...
  24. doi request reprint Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1
    Alexander Kohlmann
    MLL Munich Leukemia Laboratory, Munchen, Germany
    J Clin Oncol 28:3858-65. 2010
    ..Thus far, data on a comprehensive cytogenetic or molecular genetic characterization are limited...
  25. doi request reprint RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis
    Susanne Schnittger
    Munich Leukemia Laboratory, Max Lebsche Platz 31, Munich, Germany
    Blood 117:2348-57. 2011
    ..Multivariate analysis showed independent prognostic relevance for overall survival for RUNX1mut (P = .029), FLT3-ITD (P = .003), age (P < .001), and white blood cell count (P < .002)...
  26. doi request reprint Minimal residual disease levels assessed by NPM1 mutation-specific RQ-PCR provide important prognostic information in AML
    Susanne Schnittger
    MLL Munich Leukemia Laboratory, Munich, Germany
    Blood 114:2220-31. 2009
    ..Similar results were obtained in patients undergoing second-line chemotherapy or allogeneic stem cell transplantation...
  27. ncbi request reprint Diagnostic pathways in acute leukemias: a proposal for a multimodal approach
    Torsten Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Ann Hematol 86:311-27. 2007
    ....
  28. ncbi request reprint Amplification of EVI1 on cytogenetically cryptic double minutes as new mechanism for increased expression of EVI1
    Sarah Volkert
    MLL Munich Leukemia Laboratory, Munich, Germany
    Cancer Genet 207:103-8. 2014
    ..In conclusion, EVI1 amplification on cytogenetically cryptic dmin causes increased expression of EVI1 and is a new mechanism that causes increased EVI1 expression without a 3q26 rearrangement...
  29. pmc Serial assessment of suspected myelodysplastic syndromes: significance of flow cytometric findings validated by cytomorphology, cytogenetics, and molecular genetics
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Munich, Germany
    Haematologica 98:201-7. 2013
    ....
  30. pmc Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases
    Susanne Schnittger
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Haematologica 97:1890-4. 2012
    ..Therefore, CBL(mut) are frequent in chronic myelomonocytic leukemia, absent in classical myeloproliferative neoplasms, and are only exceptionally found in coincidence with JAK-STAT pathway activating mutations...
  31. doi request reprint Evaluation of the proposed reporting system of the European LeukemiaNet and recommendations for prognosis of acute myeloid leukemia
    Tamara Alpermann
    MLL Munich Leukemia Laboratory, Munich, Germany
    Leuk Res 37:197-200. 2013
    ..5), and adverse (adverse cytogenetics). Significant differences in outcomes between all four subgroups were found...
  32. ncbi request reprint Comparison of mRNA abundance quantified by gene expression profiling and percentage of positive cells using immunophenotyping for diagnostic antigens in acute and chronic leukemias
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Munich, Germany
    Cancer 107:2401-7. 2006
    ....
  33. pmc SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)
    Manja Meggendorfer
    MLL Munich Leukemia Laboratory, Munich, Germany
    Blood 120:3080-8. 2012
    ..This comprehensive mutation analysis found that 93% of all patients with CMML carried at least 1 somatic mutation in 9 recurrently mutated genes. In conclusion, these data show the importance of SRSF2mut as new diagnostic marker in CMML...
  34. ncbi request reprint Evaluation of flow cytometric assessment of myeloid nuclear differentiation antigen expression as a diagnostic marker for myelodysplastic syndromes in a series of 269 patients
    Frauke Bellos
    MLL Munich Leukemia Laboratory, Munich, Germany
    Cytometry B Clin Cytom 82:295-304. 2012
    ..It is suggested to be expressed more weakly in patients with myelodysplastic syndromes (MDS). The analysis of MNDA therefore may improve diagnostic capabilities of multiparameter flow cytometry (MFC) in MDS...
  35. ncbi request reprint Feasibility of using the combined MDS-EVI1/EVI1 gene expression as an alternative molecular marker in acute myeloid leukemia: a report of four cases
    Martin Weisser
    Medical Department III, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, 81377 Munich, Germany
    Cancer Genet Cytogenet 177:64-9. 2007
    ..In conclusion, the combined MDS-EVI1/EVI1 gene may serve as an alternative MRD marker in AML, especially in samples where other specific markers are lacking...
  36. ncbi request reprint New score predicting for prognosis in PML-RARA+, AML1-ETO+, or CBFBMYH11+ acute myeloid leukemia based on quantification of fusion transcripts
    Susanne Schnittger
    Laboratory for Leukemia Diagnostics, Department of Internal Medicine III, University Hospital Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, 81377 Munich, Germany
    Blood 102:2746-55. 2003
    ..By combining the transcription ratios at these 2 checkpoints, a new powerful prognostic score has been established...
  37. pmc Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia
    Vera Grossmann
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Haematologica 96:1874-7. 2011
    ..043). In conclusion, RUNX1 mutations are an important novel biomarker for a comprehensive characterization of T-cell acute lymphoblastic leukemia with poor prognostic impact and have implications for use also in monitoring disease...
  38. ncbi request reprint Acute myeloid leukemia (AML) with t(8;21)(q22;q22) relapsing as AML with t(3;21)(q26;q22)
    Ulrike Bacher
    Department of Clinical Chemistry, Ludwig Maximilians University of Munich, Marchioninistrasse 15, 81377 Munich, Germany
    Cancer Genet Cytogenet 168:172-4. 2006
    ..These data suggest that this patient developed a secondary therapy-related AML rather than a relapse...
  39. doi request reprint Correlation of flow cytometrically determined expression of ZAP-70 using the SBZAP antibody with IgVH mutation status and cytogenetics in 1,229 patients with chronic lymphocytic leukemia
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, Munich 81377, Germany
    Cytometry B Clin Cytom 76:385-93. 2009
    ..ZAP-70 provides an important prognostic information in chronic lymphocytic leukemia (CLL); however, the most appropriate antibody clone and way of analysis have not yet been defined...
  40. ncbi request reprint Monitoring of minimal residual disease in acute myeloid leukemia
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Munich, Germany
    Cancer 112:4-16. 2008
    ..Large clinical trials will determine the exact role and place of immunologic and RQ-PCR-based monitoring of MRD in the therapy of patients with AML...
  41. doi request reprint Hematologic malignancies with PCM1-JAK2 gene fusion share characteristics with myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
    Verena Patterer
    MLL Munich Leukemia Laboratory, Munich, Germany
    Ann Hematol 92:759-69. 2013
    ..Our data suggests the integration of cases with JAK2-PCM1 fusion in the respective WHO category of myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1...
  42. doi request reprint Frequency and prognostic impact of the aberrant CD8 expression in 5,523 patients with chronic lymphocytic leukemia
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Munich, Germany
    Cytometry B Clin Cytom 82:145-50. 2012
    ..In patients with chronic lymphocytic leukemia (CLL), aberrant expression of the T-lineage antigen CD8 was reported in low frequencies. The clinical impact of this phenomenon remains in discussion...
  43. doi request reprint Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia
    Susanne Schnittger
    MLL Munich Leukemia Laboratory, Munich, Germany
    Blood 119:3151-4. 2012
    ..001). In conclusion, we confirmed BRAFmut as a useful marker in HCL, its absence in HCL variant, and developed an RT-PCR-based assay to monitor minimal residual disease in HCL...
  44. ncbi request reprint Insight into the molecular pathogenesis of myeloid malignancies
    Torsten Haferlach
    MLL Munich Leukemia Laboratory, Germany
    Curr Opin Hematol 14:90-7. 2007
    ..Due to the rapid expansion of known molecular markers, this paper aims to outline some of the recent progress to improve understanding of the pathogenesis in these myeloid malignancies...
  45. ncbi request reprint Implications of NRAS mutations in AML: a study of 2502 patients
    Ulrike Bacher
    Munich Leukemia Laboratory, Department of Internal Medicine III, University Hospital Munich, Ludwig Maximilians University, Max Lebsche Platz 31, 81377 Munich, Germany
    Blood 107:3847-53. 2006
    ..However, there was a trend to better survival in most subgroups, especially when other molecular markers (FLT3-LM, MLL-PTD, and NPM) were taken into account...
  46. ncbi request reprint Acute lymphoblastic leukemia with low hypodiploid/near triploid karyotype is a specific clinical entity and exhibits a very high TP53 mutation frequency of 93%
    Verena Mühlbacher
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 53:524-36. 2014
    ..Our data suggest the introduction of a novel WHO entity within the B lymphoblastic leukemia/lymphoma group showing low hypodiploid/very low tetraploid karyotype and concomitant TP53 mutation...
  47. ncbi request reprint Cytogenetics, fluorescence in situ hybridization, and reverse transcriptase polymerase chain reaction are necessary to clarify the various mechanisms leading to an MLL-AF10 fusion in acute myelocytic leukemia with 10;11 rearrangement
    Mirjam Klaus
    Department of Internal Medicine III, Laboratory for Leukemia Diagnostics, Ludwig Maximilians University, 81377 Munich, Germany
    Cancer Genet Cytogenet 144:36-43. 2003
    ..Compared to translocations involving MLL and other partner genes, complex rearrangements are unique for MLL-AF10 fusions. This may result from the opposite orientation of MLL and AF10...
  48. ncbi request reprint Translocations as a mechanism for homozygous deletion of 13q14 and loss of the ATM gene in a patient with B-cell chronic lymphocytic leukemia
    Hannes Herholz
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Cancer Genet Cytogenet 174:57-60. 2007
    ..Deleted sites on 13q14 appeared to be located within the breakpoint regions of the translocations. We show that mechanisms other than interstitial deletions may lead to loss of critical chromosomal regions in CLL...
  49. doi request reprint Clinical utility of microarray-based gene expression profiling in the diagnosis and subclassification of leukemia: report from the International Microarray Innovations in Leukemia Study Group
    Torsten Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    J Clin Oncol 28:2529-37. 2010
    ..The Microarray Innovations in Leukemia study assessed the clinical utility of gene expression profiling as a single test to subtype leukemias into conventional categories of myeloid and lymphoid malignancies...
  50. pmc Clinical impact of FLT3 mutation load in acute promyelocytic leukemia with t(15;17)/PML-RARA
    Susanne Schnittger
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, Munich, Germany
    Haematologica 96:1799-807. 2011
    ..Combined treatment with all-trans-retinoic acid and chemotherapy is extremely efficient in patients with acute promyelocytic leukemia with t(15;17)/PML-RARA, but up to 15% of patients relapse...
  51. doi request reprint Clinical utility of multiparameter flow cytometry in the diagnosis of 1013 patients with suspected myelodysplastic syndrome: correlation to cytomorphology, cytogenetics, and clinical data
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Munich, Germany
    Cancer 116:4549-63. 2010
    ..The diagnosis and classification of myelodysplastic syndromes (MDS) is based on cytomorphology (CM) and cytogenetics (CG). Multiparameter flow cytometry (MFC) may add important diagnostic information...
  52. doi request reprint Acute monoblastic/monocytic leukemia and chronic myelomonocytic leukemia share common immunophenotypic features but differ in the extent of aberrantly expressed antigens and amount of granulocytic cells
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Munich, Germany
    Leuk Lymphoma 52:92-100. 2011
    ..4, p <0.001). The mean ratio of monocytic:granulocytic cells was higher in AMoL (5.0 vs. 0.8; p <0.001). It can be concluded that AMoL and CMML differ in aberrantly expressed antigens and the amount of granulocytic cells...
  53. doi request reprint Cyclin D1 (CCND1) messenger RNA expression as assessed by real-time PCR contributes to diagnosis and follow-up control in patients with mantle cell lymphoma
    Ulrike Bacher
    MLL Munich Leukemia Laboratory, Munich, Germany
    Exp Hematol 41:1028-37. 2013
    ..0 ± 305.0; p < 0.001). In 66 follow-up samples, CCND1 showed 2.5-3.5 log reduction after chemotherapy and increase at relapse. CCND1 expression could serve as adjunct to other techniques in diagnosis and follow-up of B-cell lymphomas...
  54. ncbi request reprint Conventional cytogenetics of myeloproliferative diseases other than CML contribute valid information
    Ulrike Bacher
    Laboratory for Leukemia Diagnostics, Department for Internal Medicine III, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, 81377 Munich, Germany
    Ann Hematol 84:250-7. 2005
    ..In ET and in HES the aberration rate was only 3 and 7%, respectively. Thus, cytogenetics can be omitted. However, in some of these cases molecular procedures should be integrated into the routine diagnostic process...
  55. doi request reprint The role of multiparameter flow cytometry for disease monitoring in AML
    Wolfgang Kern
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Best Pract Res Clin Haematol 23:379-90. 2010
    ..Clinical studies need to focus on a standardization of these approaches to facilitate the translation of MFC-based MRD assessment into therapeutic decisions in patients with AML...
  56. pmc The diagnosis of BCR/ABL-negative chronic myeloproliferative diseases (CMPD): a comprehensive approach based on morphology, cytogenetics, and molecular markers
    Torsten Haferlach
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377, Munich, Germany
    Ann Hematol 87:1-10. 2008
    ..A stringent diagnostic algorithm for characterization, choice of treatment, and monitoring of MRD will be proposed in this review...
  57. ncbi request reprint Immunostimulatory oligonucleotide-induced metaphase cytogenetics detect chromosomal aberrations in 80% of CLL patients: A study of 132 CLL cases with correlation to FISH, IgVH status, and CD38 expression
    Frank Dicker
    MLL Munich Leukemia Laboratory GmbH, Max Lebsche Platz 31, 81377 Munich, Germany
    Blood 108:3152-60. 2006
    ..We demonstrate that FISH analysis underestimates the complexity of chromosomal aberrations in CLL. Therefore, conventional cytogenetics may define subgroups of patients with high risk of progression...
  58. ncbi request reprint Moderate increase of secondary hematologic malignancies after myeloablative radiochemotherapy and autologous stem-cell transplantation in patients with indolent lymphoma: results of a prospective randomized trial of the German Low Grade Lymphoma Study Gro
    Georg Lenz
    Department of Internal Medicine III, Ludwig Maximilians University, University Hospital Grosshadern, Marchioninistrasse 15, 81377 Munich, Germany
    J Clin Oncol 22:4926-33. 2004
    ....
  59. doi request reprint Prognostic value of monosomal karyotype in comparison to complex aberrant karyotype in acute myeloid leukemia: a study on 824 cases with aberrant karyotype
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Max Lebsche Platz 31, Munich, Germany
    Blood 119:2122-5. 2012
    ..92. CK ≥ 4 as a single parameter identified the largest proportion of patients with very poor risk. However, combining CK ≥ 4 and MSK detected an even larger number of patients with very unfavorable outcome (261 of 824; 31.7%)...
  60. pmc Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera
    Susanne Schnittger
    MLL, Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
    Haematologica 94:414-8. 2009
    ..262; p=0.012). Median age of onset was lower than in the V617Fmut controls (58.5 vs. 67.8 years, p<0.001). In conclusion, JAK2 exon 12 mutation analysis contributes to diagnostics in polycythemia vera or erythrocytosis...
  61. doi request reprint A copy number repeat polymorphism in the transactivation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls
    Susanne Schnittger
    MLL Munich Leukemia Laboratory, Munich, Germany
    Exp Hematol 39:87-94. 2011
    ..As this is not a simple single nucleotide polymorphism, but a six-base pair insertion that leads to a two amino acid elongation of the protein, functional implications cannot be excluded...
  62. ncbi request reprint Modern diagnostics in acute leukemias
    Torsten Haferlach
    Laboratory for Leukemia Diagnostics, Medical Department III, University Hospital Grosshadern, Ludwig Maximilians University, Marchioninistreet 15, 81377 Munich, Germany
    Crit Rev Oncol Hematol 56:223-34. 2005
    ..The results serve as a mandatory prerequisite for individual treatment strategies and for the evaluation of treatment response using especially newly defined and highly specific MRD markers...
  63. ncbi request reprint A new and recurrent activating length mutation in exon 20 of the FLT3 gene in acute myeloid leukemia
    Karsten Spiekermann
    Clinical Cooperative Group Leukemia, GSF, National Research Center for Environment and Health, University Hospital Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, 81377 Munich, Germany
    Blood 100:3423-5. 2002
    ..Our results show for the first time that in addition to known mutations in the JM and the catalytic domain, further activating length mutations exist in the FLT3 gene...
  64. doi request reprint Perspectives of gene expression profiling for diagnosis and therapy in haematological malignancies
    Ulrike Bacher
    MLL Munich Leukemia Laboratory, D 81377 Munich, Germany
    Brief Funct Genomic Proteomic 8:184-93. 2009
    ..Large multicentre studies such as the MILE Study (Microarray Innovations in LEukemia) aim at translating this methodology into clinical routine workflows and to catalyze this process...
  65. doi request reprint Integration of next-generation sequencing into clinical practice: are we there yet?
    Alexander Kohlmann
    MLL Munich Leukemia Laboratory, Munich, Germany
    Semin Oncol 39:26-36. 2012
    ....
  66. ncbi request reprint Distinct genetic patterns can be identified in acute monoblastic and acute monocytic leukaemia (FAB AML M5a and M5b): a study of 124 patients
    Torsten Haferlach
    Department of Internal Medicine III, Laboratory for Leukaemia Diagnostics, University Hospital Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, 81377 Munich, Germany
    Br J Haematol 118:426-31. 2002
    ..In conclusion, we demonstrated genetic, i.e. biological, differences between AML M5a and AML M5b and all other AML. Therefore, AML M5 should further be categorized as two different groups, as proposed by the WHO classification...
  67. ncbi request reprint Cytogenetics in acute myeloid leukemia
    Claudia Schoch
    Department of Internal Medicine III, University Hospital Grosshadern, Ludwig Maximilians University, Marchioninistr 15, 81377 Munich, Germany
    Curr Oncol Rep 4:390-7. 2002
    ....