IGLV3-21 * 01 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling
0301 basic medicine
GENES
Survival
Überleben
Immunoglobulin allele IGLV3-21
Immunoglobulins
Prognose
Receptors, Antigen, B-Cell
Immunophenotyping
01
13Q14
Cohort Studies
03 medical and health sciences
Immunoglobulin lambda-Chains
Antigens, CD
chronic lymphocytic leukemia (CLL)
Autonomous BCR signaling
LENGTH
Humans
Point Mutation
Genetic Predisposition to Disease
PROGNOSTIC INDEX
info:eu-repo/classification/ddc/610
info:eu-repo/classification/ddc/570
B-Lymphocytes
B cell antigen receptor (BCR); autonomous BCR signaling; chronic lymphocytic leukemia (CLL); immunoglobulin allele IGLV3-21*01; B-Lymphocytes; Cohort Studies; Complementarity Determining Regions; Genetic Predisposition to Disease; Humans; Immunoglobulin Heavy Chains; Immunoglobulin lambda-Chains; Leukemia, Lymphocytic, Chronic, B-Cell; Point Mutation; Receptors, Antigen, B-Cell
immunoglobulin allele IGLV3-21*01
autonomous BCR signaling
Immunogenetic phenomena
Biological Sciences
Prognosis
B-Lymphozyten-Rezeptor
Complementarity Determining Regions
Leukemia, Lymphocytic, Chronic, B-Cell
Chronic lymphocytic leukemia (CLL)
3. Good health
B cell antigen receptor (BCR); autonomous BCR signaling; chronic lymphocytic leukemia (CLL); immunoglobulin allele IGLV3-21*01
DELETIONS
Antigen CD38
Settore MED/15 - MALATTIE DEL SANGUE
CD38 EXPRESSION
IMMUNOGLOBULIN HEAVY
Immunglobuline
Chronisch-lymphatische Leukämie
B cell antigen receptor (BCR)
Immunoglobulin Heavy Chains
DOI:
10.1073/pnas.1913810117
Publication Date:
2020-02-11T21:55:37Z
AUTHORS (38)
ABSTRACT
Significance
CLL is characterized by autonomous B cell receptor (BCR) signaling. CLL subsets are empirically defined by sequence similarities of the BCR heavy chain. However, in the unfavorable subset 2, an acquired mutation (termed R110) in the light chain stimulates autonomous BCR signaling. This study demonstrates that the oncogenic R110 mutation dictates the unfavorable prognosis and is not restricted to the conventional subset 2. Interestingly, carriers of a particular light-chain allele (
IGLV3-21
*
01
) are predisposed to develop CLL because this allele enables autonomous BCR signaling by R110 as a single-point mutation. Monoclonal antibodies permit convenient screening for R110-expressing CLL, showing that it is the largest immunologically defined CLL subset and an example of functional rather than empirical CLL subclassification.
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REFERENCES (40)
CITATIONS (69)
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