Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 448-456 |
| Number of pages | 9 |
| Journal | Haematologica |
| Volume | 105 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2020 |
Keywords
- baculoviral IAP repeat containing protein 3
- cyclophosphamide
- fludarabine
- ibrutinib
- immunoglobulin enhancer binding protein
- protein p52
- rituximab
- Article
- baculoviral IAP repeat containing protein 3 gene
- cell viability
- chronic lymphatic leukemia
- cohort analysis
- female
- gene
- gene expression
- gene mutation
- high throughput sequencing
- human
- human cell
- immunoblotting
- major clinical study
- male
- multicenter study
- nuclear localization signal
- progression free survival
- retrospective study
- risk factor
- Western blotting
- Z-138 cell line
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Biological and clinical implications of BIRC3 mutations in chronic lymphocytic leukemia. / BIRC3 Collaboration.
In: Haematologica, Vol. 105, No. 2, 2020, p. 448-456.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Biological and clinical implications of BIRC3 mutations in chronic lymphocytic leukemia
AU - BIRC3 Collaboration
AU - Diop, F.
AU - Moia, R.
AU - Favini, C.
AU - Spaccarotella, E.
AU - De Paoli, L.
AU - Bruscaggin, A.
AU - Spina, V.
AU - Terzi-Di-Bergamo, L.
AU - Arruga, F.
AU - Tarantelli, C.
AU - Deambrogi, C.
AU - Rasi, S.
AU - Adhinaveni, R.
AU - Patriarca, A.
AU - Favini, S.
AU - Sagiraju, S.
AU - Jabangwe, C.
AU - Kodipad, A.A.
AU - Peroni, D.
AU - Mauro, F.R.
AU - Del Giudice, I.
AU - Forconi, F.
AU - Cortelezzi, A.
AU - Zaja, F.
AU - Bomben, Riccardo
AU - Rossi, F.M.
AU - Visco, C.
AU - Chiarenza, A.
AU - Rigolin, G.M.
AU - Marasca, R.
AU - Coscia, M.
AU - Perbellini, O.
AU - Tedeschi, A.
AU - Laurenti, L.
AU - Motta, M.
AU - Donaldson, D.
AU - Weir, P.
AU - Mills, K.
AU - Thornton, P.
AU - Lawless, S.
AU - Bertoni, F.
AU - Poeta, G.D.
AU - Cuneo, A.
AU - Follenzi, A.
AU - Gattei, V.
AU - Boldorini, R.L.
AU - Catherwood, M.
AU - Deaglio, S.
AU - Foà, R.
AU - Rossi, D.
N1 - Cited By :17 Export Date: 16 February 2021 CODEN: HAEMA Correspondence Address: Gaidano, G.; Division of Hematology, Italy; email: gianluca.gaidano@med.uniupo.it Chemicals/CAS: baculoviral IAP repeat containing protein 3; cyclophosphamide, 50-18-0; fludarabine, 21679-14-1; ibrutinib, 936563-96-1; protein p52, 220245-41-0; rituximab, 174722-31-7; transcription intermediary factor 1 beta Funding details: 6594-20 Funding details: HSR-4660-11-2018 Funding details: European Research Council, ERC, 320030_169670/1, 772051 Funding details: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, SNF Funding details: Associazione Italiana per la Ricerca sul Cancro, AIRC, 2015ZMRFEA, IG-17314 Funding details: Università degli Studi del Piemonte Orientale, UPO Funding details: Fondation Nelia et Amadeo Barletta Funding text 1: This work was supported by: Molecular bases of disease dissemination in lymphoid malignancies to optimize curative therapeutic strategies, (5 x 1000 n. 21198), Associazione Italiana per la Ricerca sul Cancro Foundation, Milan, Italy (grants to GG and RF) and Progetti di Rilevante Interesse Nazionale (PRIN), (2015ZMRFEA), Rome, Italy; partially funded by the AGING Project – Department of Excellence – DIMET, Università del Piemonte Orientale, Novara, Italy; partially funded by Novara AIL ONLUS, Novara, Italy; Associazione Italiana per la Ricerca sul Cancro (AIRC IG-17314); Swiss Cancer League, ID HSR-4660-11-2018, Bern, Switzerland; Research Advisory Board of the Ente Ospedaliero Cantonale, Bellinzona, Switzerland; European Research Council (ERC) Consolidator grant CLL-CLONE ID: 772051; grant n. 320030_169670/1 Swiss National Science Foundation, Berne, Switzerland; Fondazione Fidinam, Lugano, Switzerland; Nelia & Amadeo Barletta Foundation, Lausanne, Switzerland; Fond’Action, Lausanne, Switzerland; Translational Research Program, grant n. 6594-20, The Leukemia & Lymphoma Society, New York, USA. 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Rossi, D., Fangazio, M., Rasi, S., Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia (2012) Blood, 119 (12), pp. 2854-2862; Rahal, R., Frick, M., Romero, R., Pharmacological and genomic profiling identifies NF-κB-targeted treatment strategies for mantle cell lymphoma (2014) Nature Medicine, 20 (1), pp. 87-92; Hallek, M., Fischer, K., Fingerle-Rowson, G., Addition of rituximab to fludarabine and cyclophosphamide in patients with chronic lymphocytic leukaemia: A randomised, open-label, phase 3 trial (2010) Lancet, 376 (9747), pp. 1164-1174; Stilgenbauer, S., Schnaiter, A., Paschka, P., Gene mutations and treatment outcome in chronic lymphocytic leukemia: Results from the CLL8 trial (2014) Blood, 123 (21), pp. 3247-3254; Grossmann, V., Kohlmann, A., Schnittger, A., Recurrent ATM and BIRC3 mutations in patients with chronic lymphocytic leukemia (CLL) and deletion 11q22-q23 (2012) Blood, 120 (21), p. 1771; Rose-Zerilli, M.J., Forster, J., Parker, H., ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: Data from the UK LRF CLL4 trial (2014) Haematologica, 99 (4), pp. 736-742; Baliakas, P., Hadzidimitriou, A., Sutton, L.A., Recurrent mutations refine prognosis in chronic lymphocytic leukemia (2015) Leukemia, 29 (2), pp. 329-336; Nadeu, F., Delgado, J., Royo, C., Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia (2016) Blood, 127 (17), pp. 2122-2130; Vince, J.E., Wong, W.W., Khan, N., IAP antagonists target cIAP1 to induce TNFalpha-dependent apoptosis (2007) Cell, 131 (4), pp. 682-693; Jost, P.J., Ruland, J., Aberrant NF-kappaB signaling in lymphoma: Mechanisms, consequences, and therapeutic implications (2007) Blood, 109 (7), pp. 2700-2707; Raponi, S., Del Giudice, I., Ilari, C., Biallelic BIRC3 inactivation in chronic lymphocytic leukaemia patients with 11q deletion identifies a subgroup with very aggressive disease (2019) Br J Haematol, 185 (1), pp. 156-159; Hewamana, S., Lin, T.T., Jenkins, C., The novel nuclear factor-kappaB inhibitor LC-1 is equipotent in poor prognostic subsets of chronic lymphocytic leukemia and shows strong synergy with fludarabine (2008) Clin Cancer Res, 14 (24), pp. 8102-8111; 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PY - 2020
Y1 - 2020
N2 - BIRC3 is a recurrently mutated gene in chronic lymphocytic leukemia (CLL) but the functional implications of BIRC3 mutations are largely unexplored. Furthermore, little is known about the prognostic impact of BIRC3 mutations in CLL cohorts homogeneously treated with first-line fludarabine, cyclophosphamide, and rituximab (FCR). By immunoblotting analysis, we showed that the non-canonical nuclear factor-êB pathway is active in BIRC3-mutated cell lines and in primary CLL samples, as documented by the stabilization of MAP3K14 and by the nuclear localization of p52. In addition, BIRC3-mutated primary CLL cells are less sensitive to fludarabine. In order to confirm in patients that BIRC3mutations confer resistance to fludarabine-based chemoimmunotherapy, a retrospective multicenter cohort of 287 untreated patients receiving first-line FCR was analyzed by targeted next-generation sequencing of 24 recurrently mutated genes in CLL. By univariate analysis adjusted for multiple comparisons BIRC3mutations identify a poor prognostic subgroup of patients in whom FCR treatment fails (median progression-free survival: 2.2 years, P
AB - BIRC3 is a recurrently mutated gene in chronic lymphocytic leukemia (CLL) but the functional implications of BIRC3 mutations are largely unexplored. Furthermore, little is known about the prognostic impact of BIRC3 mutations in CLL cohorts homogeneously treated with first-line fludarabine, cyclophosphamide, and rituximab (FCR). By immunoblotting analysis, we showed that the non-canonical nuclear factor-êB pathway is active in BIRC3-mutated cell lines and in primary CLL samples, as documented by the stabilization of MAP3K14 and by the nuclear localization of p52. In addition, BIRC3-mutated primary CLL cells are less sensitive to fludarabine. In order to confirm in patients that BIRC3mutations confer resistance to fludarabine-based chemoimmunotherapy, a retrospective multicenter cohort of 287 untreated patients receiving first-line FCR was analyzed by targeted next-generation sequencing of 24 recurrently mutated genes in CLL. By univariate analysis adjusted for multiple comparisons BIRC3mutations identify a poor prognostic subgroup of patients in whom FCR treatment fails (median progression-free survival: 2.2 years, P
KW - baculoviral IAP repeat containing protein 3
KW - cyclophosphamide
KW - fludarabine
KW - ibrutinib
KW - immunoglobulin enhancer binding protein
KW - protein p52
KW - rituximab
KW - Article
KW - baculoviral IAP repeat containing protein 3 gene
KW - cell viability
KW - chronic lymphatic leukemia
KW - cohort analysis
KW - female
KW - gene
KW - gene expression
KW - gene mutation
KW - high throughput sequencing
KW - human
KW - human cell
KW - immunoblotting
KW - major clinical study
KW - male
KW - multicenter study
KW - nuclear localization signal
KW - progression free survival
KW - retrospective study
KW - risk factor
KW - Western blotting
KW - Z-138 cell line
U2 - 10.3324/haematol.2019.219550
DO - 10.3324/haematol.2019.219550
M3 - Article
VL - 105
SP - 448
EP - 456
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 2
ER -