Tyck till om SwePub Sök
här!
Search: WFRF:(Celle S)
> Panagiotidis P. >
Distinct patterns o...
Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia : the case of SF3B1 and subset #2
-
Strefford, J. C. (author)
-
- Sutton, Lesley Ann (author)
- Uppsala universitet,Hematologi och immunologi
-
- Baliakas, Panagiotis (author)
- Uppsala universitet,Hematologi och immunologi
-
show more...
-
Agathangelidis, A. (author)
-
Malcikova, J. (author)
-
Plevova, K. (author)
-
Scarfo, L. (author)
-
Davis, Z. (author)
-
Stalika, E. (author)
-
- Cortese, Diego (author)
- Uppsala universitet,Hematologi och immunologi
-
- Cahill, Nicola (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
-
Pedersen, L. B. (author)
-
di Celle, P. F. (author)
-
Tzenou, T. (author)
-
Geisler, C. (author)
-
Panagiotidis, P. (author)
-
Langerak, A. W. (author)
-
Chiorazzi, N. (author)
-
Pospisilova, S. (author)
-
Oscier, D. (author)
-
Davi, F. (author)
-
Belessi, C. (author)
-
- Mansouri, Larry (author)
- Uppsala universitet,Hematologi och immunologi
-
Ghia, P. (author)
-
Stamatopoulos, K. (author)
-
- Rosenquist, Richard Brandell (author)
- Uppsala universitet,Hematologi och immunologi
-
show less...
-
(creator_code:org_t)
- 2013-04-05
- 2013
- English.
-
In: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 27:11, s. 2196-2199
- Related links:
-
https://www.nature.c...
-
show more...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- 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<0.001). In contrast, the frequency of NOTCH1 mutations in subset # 2 was only 8%, lower than the frequency observed in either subset # 1 or # 8 (19% and 14%, respectively; P 0.04 for subset # 1 versus # 2). No associations were found for BIRC3 mutations that overall were rare. The apparent non-random association of certain mutations with stereotyped CLL subsets alludes to subset-biased acquisition of genomic aberrations, perhaps consistent with particular antigen/antibody interactions. These novel findings assist in unraveling specific mechanisms underlying clinical aggressiveness in poor-prognostic stereotyped subsets, with far-reaching implications for understanding their clonal evolution and implementing biologically oriented therapy.
Keyword
- chronic lymphocytic leukemia
- immunoglobulin genes
- stereotyped B-cell receptors
- NOTCH1 mutations
- SF3B1 mutations
- prognosis
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
-
Leukemia
(Search for host publication in LIBRIS)
To the university's database
- By the author/editor
-
Strefford, J. C.
-
Sutton, Lesley A ...
-
Baliakas, Panagi ...
-
Agathangelidis, ...
-
Malcikova, J.
-
Plevova, K.
-
show more...
-
Scarfo, L.
-
Davis, Z.
-
Stalika, E.
-
Cortese, Diego
-
Cahill, Nicola
-
Pedersen, L. B.
-
di Celle, P. F.
-
Tzenou, T.
-
Geisler, C.
-
Panagiotidis, P.
-
Langerak, A. W.
-
Chiorazzi, N.
-
Pospisilova, S.
-
Oscier, D.
-
Davi, F.
-
Belessi, C.
-
Mansouri, Larry
-
Ghia, P.
-
Stamatopoulos, K ...
-
Rosenquist, Rich ...
-
show less...
- Articles in the publication
-
Leukemia
- By the university
-
Uppsala University