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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04234naa a2200661 4500 | |
| 001 | oai:DiVA.org:uu-213076 | |
| 003 | SwePub | |
| 008 | 131218s2013 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2130762 URI |
| 024 | 7 | a https://doi.org/10.1038/leu.2013.982 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Strefford, J. C.4 aut |
| 245 | 1 0 | a Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia :b the case of SF3B1 and subset #2 |
| 264 | c 2013-04-05 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2013 |
| 338 | a print2 rdacarrier | |
| 500 | a De tre första författarna delar första författarskapet. | |
| 520 | a 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. | |
| 653 | a chronic lymphocytic leukemia | |
| 653 | a immunoglobulin genes | |
| 653 | a stereotyped B-cell receptors | |
| 653 | a NOTCH1 mutations | |
| 653 | a SF3B1 mutations | |
| 653 | a prognosis | |
| 700 | 1 | a Sutton, Lesley Annu Uppsala universitet,Hematologi och immunologi4 aut0 (Swepub:uu)lessu455 |
| 700 | 1 | a Baliakas, Panagiotisu Uppsala universitet,Hematologi och immunologi4 aut0 (Swepub:uu)panba345 |
| 700 | 1 | a Agathangelidis, A.4 aut |
| 700 | 1 | a Malcikova, J.4 aut |
| 700 | 1 | a Plevova, K.4 aut |
| 700 | 1 | a Scarfo, L.4 aut |
| 700 | 1 | a Davis, Z.4 aut |
| 700 | 1 | a Stalika, E.4 aut |
| 700 | 1 | a Cortese, Diegou Uppsala universitet,Hematologi och immunologi4 aut0 (Swepub:uu)dieco231 |
| 700 | 1 | a Cahill, Nicolau Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)nicca470 |
| 700 | 1 | a Pedersen, L. B.4 aut |
| 700 | 1 | a di Celle, P. F.4 aut |
| 700 | 1 | a Tzenou, T.4 aut |
| 700 | 1 | a Geisler, C.4 aut |
| 700 | 1 | a Panagiotidis, P.4 aut |
| 700 | 1 | a Langerak, A. W.4 aut |
| 700 | 1 | a Chiorazzi, N.4 aut |
| 700 | 1 | a Pospisilova, S.4 aut |
| 700 | 1 | a Oscier, D.4 aut |
| 700 | 1 | a Davi, F.4 aut |
| 700 | 1 | a Belessi, C.4 aut |
| 700 | 1 | a Mansouri, Larryu Uppsala universitet,Hematologi och immunologi4 aut0 (Swepub:uu)maman377 |
| 700 | 1 | a Ghia, P.4 aut |
| 700 | 1 | a Stamatopoulos, K.4 aut |
| 700 | 1 | a Rosenquist, Richard Brandellu Uppsala universitet,Hematologi och immunologi4 aut0 (Swepub:uu)richrose |
| 710 | 2 | a Uppsala universitetb Hematologi och immunologi4 org |
| 773 | 0 | t Leukemiad : Springer Science and Business Media LLCg 27:11, s. 2196-2199q 27:11<2196-2199x 0887-6924x 1476-5551 |
| 856 | 4 | u https://www.nature.com/articles/leu201398.pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-213076 |
| 856 | 4 8 | u https://doi.org/10.1038/leu.2013.98 |
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