PMID- 38348157
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240214
IS  - 2699-9404 (Electronic)
IS  - 2699-9404 (Linking)
VI  - 11
IP  - 1
DP  - 2024 Jan
TI  - Association of Cytogenetics Aberrations and IGHV Mutations with Outcome in 
      Chronic Lymphocytic Leukemia Patients in a Real-World Clinical Setting.
PG  - 59-68
LID - 10.1055/s-0044-1779668 [doi]
AB  - Immunoglobulin heavy chain variable ( IGHV ) region mutations, TP53 mutation, 
      fluorescence in situ hybridization (FISH), and cytogenetic analysis are the most 
      important prognostic biomarkers used in chronic lymphocytic leukemia (CLL) 
      patients in our daily practice. In real-life environment, there are scarce 
      studies that analyze the correlation of these factors with outcome, mainly 
      referred to time to first treatment (TTFT) and overall survival (OS). This study 
      aimed to typify IGHV mutation status, family usage, FISH aberrations, and complex 
      karyotype (CK) and to analyze the prognostic impact in TTFT and OS in 
      retrospective study of 375 CLL patients from a Spanish cohort. We found unmutated 
      CLL (U-CLL) was associated with more aggressive disease, shorter TTFT (48 vs. 133 
      months, p  < 0.0001), and shorter OS (112 vs. 246 months, p  < 0.0001) than the 
      mutated CLL. IGHV3 was the most frequently used IGHV family (46%), followed by 
      IGHV1 (30%) and IGHV4 (16%). IGHV5-51 and IGHV1-69 subfamilies were associated 
      with poor prognosis, while IGHV4 and IGHV2 showed the best outcomes. The 
      prevalence of CK was 15% and was significantly associated with U-CLL. In the 
      multivariable analysis, IGHV2 gene usage and del13q were associated with longer 
      TTFT, while VH1-02, +12, del11q, del17p, and U-CLL with shorter TTFT. Moreover, 
      VH1-69 usage, del11q, del17p, and U-CLL were significantly associated with 
      shorter OS. A comprehensive analysis of genetic prognostic factors provides a 
      more precise information on the outcome of CLL patients. In addition to FISH 
      cytogenetic aberrations, IGHV and TP53 mutations, IGHV gene families, and CK 
      information could help clinicians in the decision-making process.
CI  - The Author(s). This is an open access article published by Thieme under the terms 
      of the Creative Commons Attribution License, permitting unrestricted use, 
      distribution, and reproduction so long as the original work is properly cited. ( 
      https://creativecommons.org/licenses/by/4.0/ ).
FAU - Munoz-Novas, Carolina
AU  - Munoz-Novas C
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Gonzalez-Gascon-Y-Marin, Isabel
AU  - Gonzalez-Gascon-Y-Marin I
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Figueroa, Inigo
AU  - Figueroa I
AD  - Departamento de Medicina, Universidad Complutense, Madrid, Spain.
FAU - Sanchez-Paz, Laura
AU  - Sanchez-Paz L
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Perez-Carretero, Claudia
AU  - Perez-Carretero C
AD  - IBSAL, IBMCC, Centro de Investigacion del Cancer, Servicio de Hematologia, 
      Hospital Universitario de Salamanca, Universidad de Salamanca-CSIC, Salamanca, 
      Spain.
FAU - Quijada-Alamo, Miguel
AU  - Quijada-Alamo M
AD  - IBSAL, IBMCC, Centro de Investigacion del Cancer, Servicio de Hematologia, 
      Hospital Universitario de Salamanca, Universidad de Salamanca-CSIC, Salamanca, 
      Spain.
FAU - Rodriguez-Vicente, Ana-Eugenia
AU  - Rodriguez-Vicente AE
AD  - IBSAL, IBMCC, Centro de Investigacion del Cancer, Servicio de Hematologia, 
      Hospital Universitario de Salamanca, Universidad de Salamanca-CSIC, Salamanca, 
      Spain.
FAU - Infante, Maria-Stefania
AU  - Infante MS
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Foncillas, Maria-Angeles
AU  - Foncillas MA
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Landete, Elena
AU  - Landete E
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Churruca, Juan
AU  - Churruca J
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Marin, Karen
AU  - Marin K
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Ramos, Victoria
AU  - Ramos V
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Sanchez Salto, Alejandro
AU  - Sanchez Salto A
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
FAU - Hernandez-Rivas, Jose-Angel
AU  - Hernandez-Rivas JA
AD  - Servicio de Hematologia, Hospital Universitario Infanta Leonor, Madrid, Spain.
AD  - Departamento de Medicina, Universidad Complutense, Madrid, Spain.
LA  - eng
PT  - Journal Article
DEP - 20240212
PL  - Germany
TA  - Glob Med Genet
JT  - Global medical genetics
JID - 101769583
PMC - PMC10861322
OTO - NOTNLM
OT  - IGHV mutation status
OT  - chronic lymphocytic leukemia
OT  - complex karyotype
OT  - overall survival
OT  - time to first treatment
COIS- Conflict of Interest None declared.
EDAT- 2024/02/13 06:45
MHDA- 2024/02/13 06:46
PMCR- 2024/02/01
CRDT- 2024/02/13 03:44
PHST- 2024/02/13 06:46 [medline]
PHST- 2024/02/13 06:45 [pubmed]
PHST- 2024/02/13 03:44 [entrez]
PHST- 2024/02/01 00:00 [pmc-release]
AID - GMG-D-23-00096 [pii]
AID - 10.1055/s-0044-1779668 [doi]
PST - epublish
SO  - Glob Med Genet. 2024 Feb 12;11(1):59-68. doi: 10.1055/s-0044-1779668. eCollection 
      2024 Jan.