Bertil Johansson

författare

• 2013
  • Loss of chromosomes is the primary event in near-haploid and low hypodiploid acute lymphoblastic leukemia.
  • Submicroscopic genomic imbalances in burkitt lymphomas/leukemias: Association with age and further evidence that 8q24/MYC translocations are not sufficient for leukemogenesis.
• 2012
  • Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol
  • Disease-associated patterns of disomic chromosomes in hyperhaploid neoplasms.
  • High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.
  • Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation
  • Myeloid malignancies with acquired trisomy 21 as the sole cytogenetic change are clinically highly variable and display a heterogeneous pattern of copy number alterations and mutations(a).
  • Whole-exome sequencing of pediatric acute lymphoblastic leukemia.
• 2011
  • Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?
  • Cytogenetic and molecular genetic characterization of the 'high hyperdiploid' B-cell precursor acute lymphoblastic leukaemia cell line MHH-CALL-2 reveals a near-haploid origin.
  • Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols.
  • SNP array analysis of leukemic relapse samples after allogeneic hematopoietic stem cell transplantation with a sibling donor identifies meiotic recombination spots and reveals possible correlation with the breakpoints of acquired genetic aberrations.
  • The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial
  • The insulin receptor substrate 4 gene (IRS4) is mutated in paediatric T-cell acute lymphoblastic leukaemia.
  • t(9;11)(p22;p15) NUP98/PSIP1 is a poor prognostic marker associated with de novo acute myeloid leukaemia expressing both mature and immature surface antigens.
• 2010
  • Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.
  • Myeloid Leukemia of Down Syndrome The Results of An International Retrospective Study
  • Persistent malignant stem cells in del(5q) myelodysplasia in remission.
  • Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.
  • The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias
  • The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.
  • Unrelated Clones In Myelodysplastic Syndromes and Acute Myeloid Leukemia Characterization and Prognostic Relevance
  • Unrelated clones in AML/MDS - characterisation and prognostic relevance
• 2009
  • B-cell precursor t(8;14)(q11;q32)-positive acute lymphoblastic leukemia in children is strongly associated with Down syndrome or with a concomitant Philadelphia chromosome.
  • Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: Rare T-cell receptor gene rearrangements are associated with poor outcome.
  • High hyperdiploid childhood acute lymphoblastic leukemia.
  • Relapsed Childhood High Hyperdiploid Acute Lymphoblastic Leukemia: Genome-Wide Screening Reveals the Presence of Preleukemic Ancestral Clones and the Secondary Nature of Microdeletions and RTK-RAS Mutations
  • Smoking as a risk factor for myelodysplastic syndromes and acute myeloid leukemia and its relation to cytogenetic findings: A case-control study.
  • The DNA methylome of pediatric acute lymphoblastic leukemia.
  • The t(X;7)(q22;q34) in paediatric T-cell acute lymphoblastic leukaemia results in overexpression of the insulin receptor substrate 4 gene through illegitimate recombination with the T-cell receptor beta locus.
  • Tiling resolution array-based comparative genomic hybridisation analyses of acute lymphoblastic leukaemias in children with Down syndrome reveal recurrent gain of 8q and deletions of 7p and 9p.
• 2008
  • BRAF mutations are very rare in B- and T-cell pediatric acute lymphoblastic leukemias.
  • Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature
  • Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study
  • Exit of pediatric pre-B acute lymphoblastic leukaemia cells from the bone marrow to the peripheral blood is not associated with cell maturation or alterations in gene expression.
  • Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia
  • Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival
  • The hypermethylome of pediatric acute lymphoblastic leukemia
• 2007
  • Characterisation of genomic translocation breakpoints and identification of an alternative TCF3/PBX1 fusion transcript in t(1;19)(q23;p13)-positive acute lymphoblastic leukaemias.
  • Combined high-resolution array-based comparative genomic hybridization and expression profiling of ETV6/RUNX1-positive acute lymphoblastic leukemias reveal a high incidence of cryptic Xq duplications and identify several putative target genes within the commonly gained region
  • Cytogenetic evolution patterns in CML post-SCT.
  • Cytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature
  • Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome.
  • Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).
  • Microarray-based classification of a consecutive series of 121 childhood acute leukemias: prediction of leukemic and genetic subtype as well as of minimal residual disease status.
  • Proposals for standardized Protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative disorders, and myelodysplastic syndromes
  • The impact of translocations and gene fusions on cancer causation.
  • The molecular signature of MDS stem cells supports a stem-cell origin of 5q - myelodysplastic syndromes
  • Tiling resolution array CGH of dic(7;9)(p11 approximately 13;p11 approximately 13) in B-cell precursor acute lymphoblastic leukemia reveals clustered breakpoints at 7p11.2 approximately 12.1 and 9p13.1.
  • Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3
  • Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes.
• 2006
  • A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42
  • Antithymocyte globulin and cyclosporine A as combination therapy for low-risk non-sideroblastic myelodysplastic syndromes
  • Array-based comparative genomic hybridization characterization of cytogenetically polyclonal myeloid malignancies.
  • Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2
  • Deregulation of cyclin D2 by juxtaposition with T-cell receptor alpha/delta locus in t(12;14)(p13;q11)-positive childhood T-cell acute lymphoblastic leukemia.
  • FISH mapping of i(7q) in acute leukemias and myxoid liposarcoma reveals clustered breakpoints in 7p11.2: implications for formation and pathogenetic outcome of the idic(7)(p11.2).
  • Fusion of ETV6 with an intronic sequence of the BAZ2A gene in a paediatric pre-B acute lymphoblastic leukaemia with a cryptic chromosome 12 rearrangement.
  • High incidence of the ETV6/RUNX1 fusion gene in paediatric precursor B-cell acute lymphoblastic leukaemias with trisomy 21 as the sole cytogenetic change: a Nordic series of cases diagnosed 1989-2005.
  • High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole cytogenetic aberration.
  • Identification of cryptic aberrations and characterization of translocation breakpoints using array CGH in high hyperdiploid childhood acute lymphoblastic leukemia.
  • MLL/GAS7 fusion in a pediatric case of t(11;17)(q23;p13)-positive precursor B-cell acute lymphoblastic leukemia
  • MYC-containing double minutes in hematologic malignancies: evidence in favor of the episome model and exclusion of MYC as the target gene
  • Searching for cryptic chromosomal aberrations in high hyperdiploid childhood acute lymphoblastic leukaemias
  • Trisomy 19 as the sole chromosomal abnormality in proliferative chronic myelomonocytic leukemia
• 2005
  • Distinct patterns of hematopoietic stem cell involvement in acute lymphoblastic leukemia.
  • Evidence for a single-step mechanism in the origin of hyperdiploid childhood acute lymphoblastic leukemia.
  • Formation of der(19)t(1;19)(q23;p13) in acute lymphoblastic leukemia.
  • Gene expression profiling of leukemic cell lines reveals conserved molecular signatures among subtypes with specific genetic aberrations
  • Molecular signatures in childhood acute leukemia and their correlations to expression patterns in normal hematopoietic subpopulations.
  • Multicolor fluorescence in situ hybridization characterization of cytogenetically polyclonal hematologic malignancies.
  • Prevalence estimates of recurrent balanced cytogenetic aberrations and gene fusions in unselected patients with neoplastic disorders.
  • The parental origin of trisomy 14 in hyperdiploid childhood ALL
• 2004
  • Autologous del(20q)-positive erythroid progenitor cells, re-emerging after DLI treatment of an MDS patient relapsing after allo-SCT, can provide a normal peripheral red blood cell count.
  • Clinical and biological importance of cytogenetic abnormalities in childhood and adult acute lymphoblastic leukemia.
  • Clinical impact of internal tandem duplications and activating point mutations in FLT3 in acute myeloid leukemia in elderly patients.
  • Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer.
  • Genome characteristics of primary carcinomas, local recurrences, carcinomatoses, and liver metastases from colorectal cancer patients
  • High frequencies of chromosomal aberrations in multiple myeloma and monoclonal gammopathy of undetermined significance in direct chromosome preparation.
  • Identification of a commonly amplified 4.3 Mb region with overexpression of the C8FW gene, encoding a phosphoprotein regulated by mitogenic pathways, but not of the MYC gene in MYC-containing double minutes in myeloid malignancies.
  • MDS/AML-associated cytogenetic abnormalities in multiple myeloma and monoclonal gammopathy of undetermined significance: Evidence for frequent de novo occurrence and multipotent stem cell involvement of del(20q).
  • MLL/GRAF fusion in an infant acute monocytic leukemia (AML M5b) with a cytogenetically cryptic ins(5;11)(q31;q23q23).
  • Structural integrity and expression of the L3MBTL gene in normal and malignant hematopoietic cells
  • The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats.
  • Tumor karyotype predicts clinical outcome in colorectal cancer patients
• 2003
  • A Novel Gene, MSI2, Encoding a Putative RNA-binding Protein Is Recurrently Rearranged at Disease Progression of Chronic Myeloid Leukemia and Forms a Fusion Gene with HOXA9 as a Result of the Cryptic t(7;17)(p15;q23).
  • A pooled analysis of karyotypic patterns, breakpoints and imbalances in 783 cytogenetically abnormal multiple myelomas reveals frequently involved chromosome segments as well as significant age- and sex-related differences.
  • Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
  • Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001.
  • Cytogenetic and Molecular Genetic Evolution of Philadelphia-Chromosome-Positive Chronic Myeloid Leukaemia
  • Cytogenetic and molecular genetic evolution of Phi
  • Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia.
  • Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13).
  • Genetic profiling of colorectal cancer liver metastases by combined comparative genomic hybridization and G-banding analysis
  • Genomic characterization of MOZ/CBP and CBP/MOZ chimeras in acute myeloid leukemia suggests the involvement of a damage-repair mechanism in the origin of the t(8;16)(p11;p13).
  • MYC is not overexpressed in a case of chronic myelomonocytic leukemia with MYC-containing double minutes
  • Pancreatic carcinoma cell lines with SMAD4 inactivation show distinct expression responses to TGFB1.
  • Trisomy 8 as the sole chromosomal aberration in myelocytic malignancies. a multicolor and locus-specific fluorescence in situ hybridization study.
• 2002
  • Acute myeloid leukemia with inv(16)(p13q22): Involvement of cervical lymph nodes and tonsils is common and may be a negative prognostic sign.
  • Cytogenetic abnormalities in a hemangiopericytoma of the spleen.
  • Cytogenetic and molecular genetic evolution of chronic myeloid leukemia.
  • Cytogenetic features of multiple myeloma: impact of gender, age, disease phase, culture time, and cytokine stimulation
  • Detailed genomic mapping and expression analyses of 12p amplifications in pancreatic carcinomas reveal a 3.5-Mb target region for amplification.
  • Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15).
  • Involvement and functional impairment of the CD34(+)CD38(-)Thy-1(+) hematopoietic stem cell pool in myelodysplastic syndromes with trisomy 8.
  • Multicolor COBRA-FISH analysis of chronic myeloid leukemia reveals novel cryptic balanced translocations during disease progression.
  • RT-PCR analysis of acute myeloid leukemia with t(8;16)(p11;p13): Identification of a novel MOZ/CBP transcript and absence of CBP/MOZ expression.
  • Unique balanced chromosome abnormalities in treatment-related myelodysplastic syndromes and acute myeloid leukemia: Report from an international workshop
• 2001
  • Altered expression of TGFB receptors and mitogenic effects of TGFB in pancreatic carcinomas
  • Are occupational, hobby, or lifestyle exposures associated with Philadelphia chromosome positive chronic myeloid leukaemia?
  • Extensive cytogenetic heterogeneity in a benign retroperitoneal schwannoma
  • 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
  • Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13)
  • Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13)
  • Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping
  • Involvement and intrinsic deficiencies of hematopoietic stem cells in MDS patients with trisomy 8
  • Isodicentric 7p, idic(7)(q11.2), in acute myeloid
  • Multivariate analyses of genomic imbalances in solid tumors reveal distinct and converging pathways of karyotypic evolution
  • Smoking and acute myeloid leukemia: associations with morphology and karyotypic patterns and evaluation of dose-response relations
  • The incidence of trisomy 8 as a sole chromosomal aberration in myeloid malignancies varies in relation to gender, age, prior iatrogenic genotoxic exposure, and morphology
  • The prognostic impact of karyotypic subgroups in myelodysplastic syndromes is strongly modified by sex
• 2000
  • Characterization of genomically amplified segments using PCR: optimizing relative-PCR for reliable and simple gene expression and gene copy analyses
  • Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias
  • Cytogenetics of hepatoblastoma: further characterization of 1q rearrangements by fluorescence in situ hybridization: an international collaborative study
  • Granulocytic sarcomas in body cavities in childhood acute myeloid leukemias with 11q23/MLL rearrangements
  • RT-PCR analysis of the MOZ-CBP and CBP-MOZ chimeric transcripts in acute myeloid leukemias with t(8;16)(p11;p13)
  • Smoking and myelodysplastic syndromes
  • Survival time in a population-based consecutive series of adult acute myeloid leukemia--the prognostic impact of karyotype during the time period 1976-1993
• 1999
  • Clonal chromosomal abnormalities in congenital bile duct dilatation (Caroli's disease)
  • Cytogenetic analyses of secondary liver tumors reveal significant differences in genomic imbalances between primary and metastatic colon carcinomas
  • Cytogenetic polyclonality in hematologic malignancies
  • Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations
  • Nonrandom chromosomal aberrations and cytogenetic heterogeneity in gallbladder carcinomas
  • Prognostic implications of cytogenetic aberrations in diffuse large B-cell lymphomas
  • The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells
• 1998
  • ETV6/ABL fusion is rare in Ph-negative chronic myeloid disorders
  • Frequent rearrangements of chromosomes 1, 7, and 8 in primary liver cancer
• 1997
  • BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion
  • Cytogenetic abnormalities and clonal evolution in an adult hepatoblastoma
  • Monosomy 22 in a case of biliary adenofibroma
  • Poor survival in t(8;21) (q22;q22)-associated acute myeloid leukaemia with leukocytosis
• 1996
  • t(3;21)(q26;q22) with AML1 rearrangement in a de novo childhood acute monoblastic leukaemia
• 1994
  • Fusion of the FUS gene with ERG in acute myeloid leukemia with t(16;21)(p11;q22)
• 1990
  • Remarkably long survival of a patient with Ph1-positive chronic myeloid leukemia and 5' bcr rearrangement