Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2

J C Strefford; L-A Sutton; P Baliakas; A Agathangelidis; J Malčíková; K Plevova; L Scarfó; Zachary James Davis; E Stalika; D Cortese; N Cahill; L B Pedersen; P F di Celle; T Tzenou; C Geisler; P Panagiotidis; A W Langerak; N Chiorazzi; S Pospisilova; D Oscier; F Davi; C Belessi; L Mansouri; P Ghia; K Stamatopoulos; R Rosenquist

doi:10.1038/leu.2013.98

Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2

J C Strefford, L-A Sutton, P Baliakas, A Agathangelidis, J Malčíková, K Plevova, L Scarfó, Zachary James Davis, E Stalika, D Cortese, N Cahill, L B Pedersen, P F di Celle, T Tzenou, C Geisler, P Panagiotidis, A W Langerak, N Chiorazzi, S Pospisilova, D OscierF Davi, C Belessi, L Mansouri, P Ghia, K Stamatopoulos, R Rosenquist

98 Citations (Scopus)

Abstract

Recent studies have revealed recurrent mutations of the NOTCH1, SF3B1 and BIRC3 genes in chronic lymphocytic leukemia (CLL), especially among aggressive, chemorefractory cases. Nevertheless, it is currently unknown whether their presence may differ in subsets of patients carrying stereotyped B-cell receptors and also exhibiting distinct prognoses. Here, we analyzed the mutation status of NOTCH1, SF3B1 and BIRC3 in three subsets with particularly poor prognosis, that is, subset #1, #2 and #8, aiming to explore links between genetic aberrations and immune signaling. A remarkably higher frequency of SF3B1 mutations was revealed in subset #2 (44%) versus subset #1 and #8 (4.6% and 0%, respectively; P

Original language	English
Journal	Leukemia
Volume	27
Issue number	11
Pages (from-to)	2196-9
Number of pages	4
ISSN	0887-6924
DOIs	https://doi.org/10.1038/leu.2013.98
Publication status	Published - Nov 2013

Keywords

Cohort Studies
DNA, Neoplasm
Follow-Up Studies
Humans
Inhibitor of Apoptosis Proteins
Leukemia, Lymphocytic, Chronic, B-Cell
Mutation
Phosphoproteins
Polymerase Chain Reaction
Prognosis
Receptor, Notch1
Ribonucleoprotein, U2 Small Nuclear
Survival Rate
Tumor Markers, Biological

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Strefford, J. C., Sutton, L.-A., Baliakas, P., Agathangelidis, A., Malčíková, J., Plevova, K., Scarfó, L., Davis, Z. J., Stalika, E., Cortese, D., Cahill, N., Pedersen, L. B., di Celle, P. F., Tzenou, T., Geisler, C., Panagiotidis, P., Langerak, A. W., Chiorazzi, N., Pospisilova, S., ... Rosenquist, R. (2013). Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2. Leukemia, 27(11), 2196-9. https://doi.org/10.1038/leu.2013.98

Strefford, JC, Sutton, L-A, Baliakas, P, Agathangelidis, A, Malčíková, J, Plevova, K, Scarfó, L, Davis, ZJ, Stalika, E, Cortese, D, Cahill, N, Pedersen, LB, di Celle, PF, Tzenou, T, Geisler, C, Panagiotidis, P, Langerak, AW, Chiorazzi, N, Pospisilova, S, Oscier, D, Davi, F, Belessi, C, Mansouri, L, Ghia, P, Stamatopoulos, K & Rosenquist, R 2013, 'Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2', Leukemia, vol. 27, no. 11, pp. 2196-9. https://doi.org/10.1038/leu.2013.98

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title = "Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset \#2",

abstract = "Recent studies have revealed recurrent mutations of the NOTCH1, SF3B1 and BIRC3 genes in chronic lymphocytic leukemia (CLL), especially among aggressive, chemorefractory cases. Nevertheless, it is currently unknown whether their presence may differ in subsets of patients carrying stereotyped B-cell receptors and also exhibiting distinct prognoses. Here, we analyzed the mutation status of NOTCH1, SF3B1 and BIRC3 in three subsets with particularly poor prognosis, that is, subset \#1, \#2 and \#8, aiming to explore links between genetic aberrations and immune signaling. A remarkably higher frequency of SF3B1 mutations was revealed in subset \#2 (44\%) versus subset \#1 and \#8 (4.6\% and 0\%, respectively; P",

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AU - Baliakas, P

AU - Agathangelidis, A

AU - Malčíková, J

AU - Plevova, K

AU - Scarfó, L

AU - Davis, Zachary James

AU - Stalika, E

AU - Cortese, D

AU - Cahill, N

AU - Pedersen, L B

AU - di Celle, P F

AU - Tzenou, T

AU - Geisler, C

AU - Panagiotidis, P

AU - Langerak, A W

AU - Chiorazzi, N

AU - Pospisilova, S

AU - Oscier, D

AU - Davi, F

AU - Belessi, C

AU - Mansouri, L

AU - Ghia, P

AU - Stamatopoulos, K

AU - Rosenquist, R

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KW - Phosphoproteins

KW - Polymerase Chain Reaction

KW - Prognosis

KW - Receptor, Notch1

KW - Ribonucleoprotein, U2 Small Nuclear

KW - Survival Rate

KW - Tumor Markers, Biological

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Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2

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Keywords

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