FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2588976044> ?p ?o ?g. }

• W2588976044 abstract "Abstract Abstract 3892 Background: 13q deletions (del(13q)) are the most frequent abnormalities in CLL and, if present as a sole abnormality, associated with favorable outcome. Since the size of the deletion varies considerably, class I (del(13q) not including the RB1 locus) and class II (del(13q) including the RB1 locus) deletions were defined. Previous data suggested that class II deletions were associated with genomic complexity and an unfavorable clinical course. However, confirmation in a large patient cohort was lacking. Aim: Cytogenetic and molecular genetic characterization of patients with class I and class II deletions and evaluation of the impact on outcome. Patients and Methods: 263 cases with newly diagnosed CLL and del(13q) were analyzed by FISH using probes for RB1, D13S25, D13S319 (13q14), ATM (11q22), TP53 (17p13), SEC63 (6q21) and 12 cen. Data from chromosome banding analyses (CBA) (n=263), IGHV mutation status (n=230) and TP53 mutation status (n=206) were also available. Results: 145/263 patients (55.1%) showed a class I and 118 cases (44.9%) a class II deletion. In 79/263 patients (30%) a homozygous del(13q) was observed. No significant difference in frequency of homozygous deletions was observed between cases with class I vs class II deletions (48/145 (33.1%) vs 31/118 (26.3%)). Abnormalities in addition to del(13q): Based on FISH data 66 cases (25.1%) showed abnormalities in addition to del(13q) (del(6q): 5, del(11q): 28, +12: 27, del(17p): 11). The frequency of additional abnormalities did not differ between patients with class I vs class II deletions (25.5% vs 24.6%). Considering also CBA 101 patients (38.4%) showed additional abnormalities. A complex karyotype defined as 3 or more abnormalities in addition to del(13q) was observed in 34 cases (12.9%) and was more frequent in cases with class II deletion (17.8% vs 9.0%, p=0.042). The mean number of abnormalities per case was significantly higher in patients with class II deletions (1.25 vs 0.7, p=0.002). Patients with homozygous del(13q) less frequently showed additional chromosome abnormalities compared to patients with heterozygous del(13q) (22.8% vs 45.1%, p=0.001). IGHV mutation status: In the total cohort, 156/230 patients (67.8%) showed a mutated and 74 (32.2%) an unmutated IGHV status. No difference with respect to the IGHV mutation status was observed between class I vs class II cases. However, an unmutated IGHV status was more frequent in cases with additional abnormalities detected by FISH or CBA compared to those without (52.6% vs 25.4%, p<0.0001 and 48.3% vs 22.4%, p<0.0001). A mutated IGHV status was more frequent in patients with homozygous as compared to heterozygous del(13q) (81.2% vs 62.1%, p=0.005). TP53 mutation status: TP53 mutations were observed in 15/206 cases (7.3%). The TP53 mutation frequency did not differ between class I vs class II patients (6.9% vs 7.8%). However, TP53 mutations were more frequent in cases with additional abnormalities detected by FISH or CBA as compared to those without (18.8% vs 3.8%, p=0.002 and 13.2% vs 3.8%, p=0.023), in cases with complex karyotype (19.2% vs 5.6%, p=0.027), and in cases with TP53 deletions detected by FISH as compared to those without (70.0% vs 4.1%, p<0.0001). Overall survival and time to treatment: OS at 3 yrs in the total cohort was 94% (median time of follow-up of 3.0 yrs). Only Binet stage B/C was significantly associated with shorter OS (p=0.014; relative risk (RR): 6.56). A trend for shorter OS was observed for additional TP53 mutations and/or deletions, while no difference in OS was observed between class I vs class II and homozygous vs heterozygous deletions. The following parameters were associated with longer TTT: no additional abnormalities present in CBA or FISH (p=0.009; RR: 0.55; p=0.010; RR: 0.54), and a mutated IGHV status (p<0.0001; RR: 0.381). A complex karyotype (p=0.040; RR: 1.80) and ATM deletions (p=0.013; RR: 2.04) were associated with shorter TTT. Conclusions: 1. Neither the size nor homozygosity of del(13q) showed impact on OS or TTT. However, a mutated IGHV status and the absence of additional abnormalities were associated with longer TTT. Patients with an additional del(11q) or a complex karyotype showed shorter TTT. 2. A complex karyotype was significantly associated with class II deletions. 3. CLL with del(13q) can be further subdivided by the RB1 deletion status, additional chromosome abnormalities based on CBA and IGHV mutation status. Disclosures: Haferlach: MLL Munich Leukemia Laboratory: Equity Ownership. Zenger:MLL Munich Leukemia Laboratory: Employment. Grossmann:MLL Munich Leukemia Laboratory: Employment. Dicker:MLL Munich Leukemia Laboratory: Employment. Jeromin:MLL Munich Leukemia Laboratory: Employment. Kohlmann:MLL Munich Leukemia Laboratory: Employment. Schnittger:MLL Munich Leukemia Laboratory: Equity Ownership. Kern:MLL Munich Leukemia Laboratory: Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Equity Ownership." @default.
• W2588976044 created "2017-02-24" @default.
• W2588976044 creator A5003682222 @default.
• W2588976044 creator A5015922856 @default.
• W2588976044 creator A5021480569 @default.
• W2588976044 creator A5023137678 @default.
• W2588976044 creator A5043414993 @default.
• W2588976044 creator A5043985870 @default.
• W2588976044 creator A5048388170 @default.
• W2588976044 creator A5059817767 @default.
• W2588976044 creator A5082454763 @default.
• W2588976044 date "2012-11-16" @default.
• W2588976044 modified "2023-10-02" @default.
• W2588976044 title "The Impact of Homozygosity and Size of the 13q Deletion in Patients with CLL" @default.
• W2588976044 doi "https://doi.org/10.1182/blood.v120.21.3892.3892" @default.
• W2588976044 hasPublicationYear "2012" @default.
• W2588976044 type Work @default.
• W2588976044 sameAs 2588976044 @default.
• W2588976044 citedByCount "1" @default.
• W2588976044 countsByYear W25889760442015 @default.
• W2588976044 crossrefType "journal-article" @default.
• W2588976044 hasAuthorship W2588976044A5003682222 @default.
• W2588976044 hasAuthorship W2588976044A5015922856 @default.
• W2588976044 hasAuthorship W2588976044A5021480569 @default.
• W2588976044 hasAuthorship W2588976044A5023137678 @default.
• W2588976044 hasAuthorship W2588976044A5043414993 @default.
• W2588976044 hasAuthorship W2588976044A5043985870 @default.
• W2588976044 hasAuthorship W2588976044A5048388170 @default.
• W2588976044 hasAuthorship W2588976044A5059817767 @default.
• W2588976044 hasAuthorship W2588976044A5082454763 @default.
• W2588976044 hasConcept C104317684 @default.
• W2588976044 hasConcept C126322002 @default.
• W2588976044 hasConcept C143589142 @default.
• W2588976044 hasConcept C180754005 @default.
• W2588976044 hasConcept C2780907584 @default.
• W2588976044 hasConcept C30481170 @default.
• W2588976044 hasConcept C54355233 @default.
• W2588976044 hasConcept C71924100 @default.
• W2588976044 hasConcept C84597430 @default.
• W2588976044 hasConcept C86803240 @default.
• W2588976044 hasConceptScore W2588976044C104317684 @default.
• W2588976044 hasConceptScore W2588976044C126322002 @default.
• W2588976044 hasConceptScore W2588976044C143589142 @default.
• W2588976044 hasConceptScore W2588976044C180754005 @default.
• W2588976044 hasConceptScore W2588976044C2780907584 @default.
• W2588976044 hasConceptScore W2588976044C30481170 @default.
• W2588976044 hasConceptScore W2588976044C54355233 @default.
• W2588976044 hasConceptScore W2588976044C71924100 @default.
• W2588976044 hasConceptScore W2588976044C84597430 @default.
• W2588976044 hasConceptScore W2588976044C86803240 @default.
• W2588976044 hasLocation W25889760441 @default.
• W2588976044 hasOpenAccess W2588976044 @default.
• W2588976044 hasPrimaryLocation W25889760441 @default.
• W2588976044 hasRelatedWork W2266850786 @default.
• W2588976044 hasRelatedWork W2338923841 @default.
• W2588976044 hasRelatedWork W2413549487 @default.
• W2588976044 hasRelatedWork W2480803580 @default.
• W2588976044 hasRelatedWork W2547050416 @default.
• W2588976044 hasRelatedWork W2552809083 @default.
• W2588976044 hasRelatedWork W2552819323 @default.
• W2588976044 hasRelatedWork W2567909665 @default.
• W2588976044 hasRelatedWork W2580762904 @default.
• W2588976044 hasRelatedWork W2593602691 @default.
• W2588976044 hasRelatedWork W2724313162 @default.
• W2588976044 hasRelatedWork W2801756488 @default.
• W2588976044 hasRelatedWork W2973405190 @default.
• W2588976044 hasRelatedWork W2979488269 @default.
• W2588976044 hasRelatedWork W2979575391 @default.
• W2588976044 hasRelatedWork W2980079249 @default.
• W2588976044 hasRelatedWork W2980096052 @default.
• W2588976044 hasRelatedWork W2980124012 @default.
• W2588976044 hasRelatedWork W2992425536 @default.
• W2588976044 hasRelatedWork W306028860 @default.
• W2588976044 isParatext "false" @default.
• W2588976044 isRetracted "false" @default.
• W2588976044 magId "2588976044" @default.
• W2588976044 workType "article" @default.