Search for dissertations about: "chronic lymphocytic leukemia"

Showing result 1 - 5 of 72 swedish dissertations containing the words chronic lymphocytic leukemia.

  1. 1. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Diego Cortese; Uppsala universitet.; [2016]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

    Abstract : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. READ MORE

  2. 2. Immunoglobulin Gene Analysis in Chronic Lymphocytic Leukemia Characterization of New Prognostic and Biological Subsets

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Gerard Tobin; Uppsala universitet.; [2004]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; chronic lymphocytic leukemia; immunoglobulin genes; VH3-21; CDR3; P2X7; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik;

    Abstract : Recent studies have shown that the somatic mutation status of the immunoglobulin (Ig) VH genes can divide chronic lymphocytic leukemia (CLL) into two prognostic subsets, since cases with mutated VH genes display superior survival compared to unmutated cases. Biased VH gene usage has also been reported in CLL which may reflect antigen selection. READ MORE

  3. 3. Array-based Characterization of Chronic Lymphocytic Leukemia - with Focus on Subsets Carrying Stereotyped B-cell Receptors

    University dissertation from Uppsala : Acta Universitatis Upsaliensis Uppsala

    Author : Millaray Marincevic; Uppsala universitet.; [2010]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; array-based characterization; stereotyped B-cell receptors; subsets; antigens; SNP array; gene expression array; methylation array; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; Clinical Genetics; Klinisk genetik;

    Abstract : In chronic lymphocytic leukemia (CLL), the presence of multiple subsets expressing ‘stereotyped’ B-cell receptors (BCRs) has implicated antigen(s) in leukemogenesis. These stereotyped subsets display similar immunoglobulin (IG) gene usage, almost identical complementarity determining region 3’s and may share clinical features. READ MORE

  4. 4. Array based genetic profiling of chronic lymphocytic leukemia

    University dissertation from Department of Laboratory Medicine, Lund University

    Author : Rebeqa Gunnarsson; Lunds universitet.; Lund University.; [2010]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; prognostic markers; copy-number neutral loss of heterozygosity; copy-number aberrations; chronic lymphocytic leukemia; genomic microarrays; clonal evolution; stereotyped B-cell receptors;

    Abstract : Although no common genetic defect has been described in chronic lymphocytic leukemia (CLL), recurrent genomic aberrations (i.e. deletions of chromosome 11q, 13q, 17p and trisomy 12) are important for prognostication. Deletion of 13q as single aberration is associated with the best prognosis, whereas del(11q) and del(17p) predict a poor outcome. READ MORE

  5. 5. RNA-based Prognostic Markers in Chronic Lymphocytic Leukemia

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Marie Sevov; Uppsala universitet.; [2010]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Chronic lymphocytic leukemia; prognostic markers; RNA-based markers; LPL; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Haematology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Hematologi; Medical Science; Medicinsk vetenskap;

    Abstract : Chronic lymphocytic leukemia (CLL) is a heterogeneous disease where a significant proportion of patients will develop an aggressive disease. Today, the mutational status of the immunoglobulin heavy variable (IGHV) genes is one of the strongest prognostic markers in CLL, where unmutated IGHV genes correlate with poor outcome. READ MORE