2e70d4c449b007b09fb71a046605a7a76689d00d
morinlab.bib
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| 1 | +@article{demirandaExomeSequencingReveals2014, |
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| 2 | + title = {Exome Sequencing Reveals Novel Mutation Targets in Diffuse Large {{B-cell}} Lymphomas Derived from {{Chinese}} Patients}, |
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| 3 | + author = {family=Miranda, given=Noel F. C. C., prefix=de, useprefix=true and Georgiou, Konstantinos and Chen, Longyun and Wu, Chenglin and Gao, Zhibo and Zaravinos, Apostolos and Lisboa, Susana and Enblad, Gunilla and Teixeira, Manuel R. and Zeng, Yixin and Peng, Roujun and Pan-Hammarström, Qiang}, |
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| 4 | + date = {2014-10-16}, |
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| 5 | + journaltitle = {Blood}, |
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| 6 | + shortjournal = {Blood}, |
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| 7 | + volume = {124}, |
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| 8 | + number = {16}, |
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| 9 | + eprint = {25171927}, |
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| 10 | + eprinttype = {pmid}, |
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| 11 | + pages = {2544--2553}, |
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| 12 | + issn = {1528-0020}, |
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| 13 | + doi = {10.1182/blood-2013-12-546309}, |
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| 14 | + abstract = {Next-generation sequencing studies on diffuse large B-cell lymphomas (DLBCLs) have revealed novel targets of genetic aberrations but also high intercohort heterogeneity. Previous studies have suggested that the prevalence of disease subgroups and cytogenetic profiles differ between Western and Asian patients. To characterize the coding genome of Chinese DLBCL, we performed whole-exome sequencing of DNA derived from 31 tumors and respective peripheral blood samples. The mutation prevalence of B2M, CD70, DTX1, LYN, TMSB4X, and UBE2A was investigated in an additional 105 tumor samples. We discovered 11 novel targets of recurrent mutations in DLBCL that included functionally relevant genes such as LYN and TMSB4X. Additional genes were found mutated at high frequency (≥10\%) in the Chinese cohort including DTX1, which was the most prevalent mutation target in the Notch pathway. We furthermore demonstrated that mutations in DTX1 impair its function as a negative regulator of Notch. Novel and previous unappreciated targets of somatic mutations in DLBCL identified in this study support the existence of additional/alternative tumorigenic pathways in these tumors. The observed differences with previous reports might be explained by the genetic heterogeneity of DLBCL, the germline genetic makeup of Chinese individuals, and/or exposure to distinct etiological agents.}, |
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| 15 | + langid = {english}, |
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| 16 | + pmcid = {PMC4199956}, |
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| 17 | + keywords = {Asian People,China,Exome,Female,Genetic Heterogeneity,High-Throughput Nucleotide Sequencing,Humans,Lymphoma Large B-Cell Diffuse,Male,Middle Aged,Mutation,Receptors Notch,Signal Transduction,Ubiquitin-Protein Ligases}, |
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| 18 | + file = {/Users/rmorin/Zotero/storage/HG48PNJL/de Miranda et al. - 2014 - Exome sequencing reveals novel mutation targets in.pdf} |
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| 19 | +} |
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| 20 | + |
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| 21 | +@article{merirantaDeltex1MutationsPredict2017b, |
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| 22 | + title = {Deltex-1 Mutations Predict Poor Survival in Diffuse Large {{B-cell}} Lymphoma}, |
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| 23 | + author = {Meriranta, Leo and Pasanen, Annika and Louhimo, Riku and Cervera, Alejandra and Alkodsi, Amjad and Autio, Matias and Taskinen, Minna and Rantanen, Ville and Karjalainen-Lindsberg, Marja-Liisa and Holte, Harald and Delabie, Jan and Lehtonen, Rainer and Hautaniemi, Sampsa and Leppä, Sirpa}, |
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| 24 | + date = {2017-05}, |
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| 25 | + journaltitle = {Haematologica}, |
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| 26 | + shortjournal = {Haematologica}, |
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| 27 | + volume = {102}, |
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| 28 | + number = {5}, |
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| 29 | + eprint = {28183850}, |
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| 30 | + eprinttype = {pmid}, |
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| 31 | + pages = {e195-e198}, |
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| 32 | + issn = {1592-8721}, |
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| 33 | + doi = {10.3324/haematol.2016.157495}, |
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| 34 | + langid = {english}, |
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| 35 | + pmcid = {PMC5477623}, |
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| 36 | + keywords = {Adult,Aged,Biomarkers Tumor,DNA Mutational Analysis,Exons,Female,Humans,Lymphoma Large B-Cell Diffuse,Male,Middle Aged,Mutation,Neoplasm Grading,Neoplasm Staging,Prognosis,Proportional Hazards Models,Protein Domains,Ubiquitin-Protein Ligases}, |
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| 37 | + file = {/Users/rmorin/Zotero/storage/JKQNUED7/Meriranta et al. - 2017 - Deltex-1 mutations predict poor survival in diffus.pdf} |
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| 38 | +} |
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| 39 | + |
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| 40 | +@article{jardinDiffuseLargeBcell2010a, |
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| 41 | + title = {Diffuse Large {{B-cell}} Lymphomas with {{CDKN2A}} Deletion Have a Distinct Gene Expression Signature and a Poor Prognosis under {{R-CHOP}} Treatment: A {{GELA}} Study}, |
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| 42 | + shorttitle = {Diffuse Large {{B-cell}} Lymphomas with {{CDKN2A}} Deletion Have a Distinct Gene Expression Signature and a Poor Prognosis under {{R-CHOP}} Treatment}, |
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| 43 | + author = {Jardin, Fabrice and Jais, Jean-Philippe and Molina, Thierry-Jo and Parmentier, Françoise and Picquenot, Jean-Michel and Ruminy, Philippe and Tilly, Hervé and Bastard, Christian and Salles, Gilles-André and Feugier, Pierre and Thieblemont, Catherine and Gisselbrecht, Christian and family=Reynies, given=Aurelien, prefix=de, useprefix=true and Coiffier, Bertrand and Haioun, Corinne and Leroy, Karen}, |
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| 44 | + date = {2010-08-19}, |
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| 45 | + journaltitle = {Blood}, |
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| 46 | + shortjournal = {Blood}, |
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| 47 | + volume = {116}, |
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| 48 | + number = {7}, |
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| 49 | + eprint = {20435884}, |
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| 50 | + eprinttype = {pmid}, |
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| 51 | + pages = {1092--1104}, |
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| 52 | + issn = {1528-0020}, |
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| 53 | + doi = {10.1182/blood-2009-10-247122}, |
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| 54 | + abstract = {Genomic alterations play a crucial role in the development and progression of diffuse large B-cell lymphomas (DLBCLs). We determined gene copy number alterations (GCNAs) of TP53, CDKN2A, CDKN1B, BCL2, MYC, REL, and RB1 with a single polymerase chain reaction (PCR) assay (quantitative multiplex PCR of short fragments [QMPSF]) in a cohort of 114 patients with DLBCL to assess their prognostic value and relationship with the gene expression profile. Losses of TP53 and CDKN2A, observed in 8\% and 35\% of patients, respectively, were significantly associated with a shorter survival after rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) treatment, independently of the International Prognostic Index and of the cell of origin. Analysis of the 9p21 genomic region indicated that transcripts encoding p14ARF and p16INK4A were both disrupted in most patients with CDKN2A deletion. These patients predominantly had an activated B-cell profile and showed a specific gene expression signature, characterized by dysregulation of the RB/E2F pathway, activation of cellular metabolism, and decreased immune and inflammatory responses. These features may constitute the molecular basis sustaining the unfavorable outcome and chemoresistance of this DLBCL subgroup. Detection of TP53 and CDKN2A loss by QMPSF is a powerful tool that could be used for patient stratification in future clinical trials.}, |
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| 55 | + langid = {english}, |
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| 56 | + keywords = {Adult,Aged,Aged 80 and over,Antibodies Monoclonal,Antibodies Monoclonal Murine-Derived,Antineoplastic Combined Chemotherapy Protocols,Cyclin-Dependent Kinase Inhibitor p16,Cyclophosphamide,Doxorubicin,Female,Gene Expression Profiling,Humans,Lymphoma Large B-Cell Diffuse,Male,Middle Aged,Prednisone,Prognosis,Proto-Oncogene Proteins c-bcl-2,Proto-Oncogene Proteins c-myc,Proto-Oncogene Proteins c-rel,Retinoblastoma Protein,Rituximab,Sequence Deletion,Tumor Suppressor Protein p53,Vincristine,Young Adult}, |
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| 57 | + file = {/Users/rmorin/Zotero/storage/UAG579EJ/Jardin et al. - 2010 - Diffuse large B-cell lymphomas with CDKN2A deletio.pdf} |
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| 58 | +} |
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| 59 | + |
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| 60 | +@article{zhaoExpressionPrognosticValue2016, |
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| 61 | + title = {[Expression and prognostic value of CARD11 in diffuse large B cell lymphoma]}, |
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| 62 | + author = {Zhao, Danqing and Li, Dongmei and Zhong, Dingrong and Zhang, Wei}, |
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| 63 | + date = {2016-01}, |
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| 64 | + journaltitle = {Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi}, |
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| 65 | + shortjournal = {Zhonghua Xue Ye Xue Za Zhi}, |
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| 66 | + volume = {37}, |
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| 67 | + number = {1}, |
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| 68 | + eprint = {26876250}, |
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| 69 | + eprinttype = {pmid}, |
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| 70 | + pages = {30--34}, |
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| 71 | + issn = {0253-2727}, |
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| 72 | + doi = {10.3760/cma.j.issn.0253-2727.2016.01.006}, |
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| 73 | + abstract = {OBJECTIVE: To determine the CARD11 expression and its prognostic value in diffuse large B cell lymphoma (DLBCL). METHODS: This retrospective study included previously untreated patients diagnosed with DLBCL from January 2007 to December 2012. Formalin-fixed, paraffin-embedded blocks of these patients were collected. Tissue microarray was built and expression of CARD11 was examined immunohistochemically. Subtype of DLBCL was determined by Hans algorithm (CD10, BCL6, MUM1). The pattern of CARD11 was further studied and their correlation with outcome was analyzed. RESULTS: 79 patients with DLBCL were enrolled and two reactive lymph nodes were used as control. The positive rate of high CARD11 expression in DLBCL was 65.33\%, which showed no significant associations with patients' characteristics. Positive CARD11 expression was associated with an inferior event free survival (EFS)(2- year EFS: 52.03\%vs 86.12\%,P=0.036). Even in patients with a high international prognostic index (IPI, 3-5 points), this difference still remained significant (Median EFS not reached vs 557 days,P=0.033). CONCLUSION: DLBCL patients with high CARD11 expression had a shorter EFS compared with low level of CARD11. This difference remained significant when patients were in high IPI (3-5 points), which might indicate the value of CARD11 in stratification of high-risk DLBCL patients.}, |
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| 74 | + langid = {chi}, |
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| 75 | + pmcid = {PMC7342294}, |
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| 76 | + keywords = {CARD Signaling Adaptor Proteins,Disease-Free Survival,Guanylate Cyclase,Humans,Lymphoma Large B-Cell Diffuse,Prognosis,Retrospective Studies} |
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| 77 | +} |
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| 78 | + |
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| 79 | +@article{guoMutationBTG2Gene2022b, |
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| 80 | + title = {The {{Mutation}} of {{BTG2 Gene Predicts}} a {{Poor Outcome}} in {{Primary Testicular Diffuse Large B-Cell Lymphoma}}}, |
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| 81 | + author = {Guo, Dan and Hong, Lemin and Ji, Hao and Jiang, Yuwen and Lu, Ling and Wang, Xinfeng and Huang, Hongming}, |
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| 82 | + date = {2022}, |
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| 83 | + journaltitle = {Journal of Inflammation Research}, |
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| 84 | + shortjournal = {J Inflamm Res}, |
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| 85 | + volume = {15}, |
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| 86 | + eprint = {35300216}, |
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| 87 | + eprinttype = {pmid}, |
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| 88 | + pages = {1757--1769}, |
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| 89 | + issn = {1178-7031}, |
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| 90 | + doi = {10.2147/JIR.S341355}, |
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| 91 | + abstract = {INTRODUCTION: Primary testicular diffuse large B-cell lymphoma (PT-DLBCL) is a rare and aggressive form of mature B-cell lymphoma commonly found in elder males, but its genetic features are poorly understood. In this study, we had performed target-sequencing of 360 lymphoma-related genes on 76 PT-DLBCL patients with a median age of 65 (33-89). Our data provide a comprehensive understanding of the landscape of mutations in a small subset of PT-DLBCL. METHODS: A total of 76 PT-DLBCL patients were sequenced, and their clinical data and follow-up data were collected. The relationship between mutated genes, clinical data and prognosis and survival of PT-DLBCL patients was retrospectively analyzed by statistical software. RESULTS: We observed a median of 15 protein-altering variants per patient in our data and was identified recurrent oncogenic mutations of 360 lymphoma-related genes involved in PT-DLBCL, including PIM1 (74\%), MYD88 (50\%), KMT2D (38\%), KMT2C (34\%), BTG2 (34\%), TBL1XR1 (34\%) and ETV6 (24\%). Compared with classic DLBCL, PT-DLBCL showed an increased mutation frequency of PIM1, MYD88, BTG2, while NOTCH1 appeared exclusive mutated with PIM1, MSH3 and ETV6. Cox risk model regression analysis showed that age ≥60 years, IPI 3-5 points, BTG2 gene mutation and extranodal organ invasion suggested poor prognosis. Finally, we constructed an OS predict model of PT-DLBCL patients using above factors with a high accuracy. CONCLUSION: In conclusion, our results revealed genomic characterization of PT-DLBCL, and the mutation of BTG2 was an independent factor predicting a poor prognosis.}, |
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| 92 | + langid = {english}, |
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| 93 | + pmcid = {PMC8923029}, |
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| 94 | + keywords = {BTG2,genetic mutation,primary testicular diffuse large B-cell lymphoma,prognosis,survival}, |
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| 95 | + file = {/Users/rmorin/Zotero/storage/7PQ8ID2L/Guo et al. - 2022 - The Mutation of BTG2 Gene Predicts a Poor Outcome .pdf} |
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| 96 | +} |
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| 97 | + |
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| 1 | 98 | @article{bonatoNFKBIEMutationsAre2024, |
| 2 | 99 | title = {{{NFKBIE}} Mutations Are Selected by the Tumor Microenvironment and Contribute to Immune Escape in Chronic Lymphocytic Leukemia}, |
| 3 | 100 | author = {Bonato, Alice and Chakraborty, Supriya and Bomben, Riccardo and Canarutto, Giulia and Felician, Giulia and Martines, Claudio and Zucchetto, Antonella and Pozzo, Federico and Vujovikj, Marija and Polesel, Jerry and Chiarenza, Annalisa and Del Principe, Maria Ilaria and Del Poeta, Giovanni and D'Arena, Giovanni and Marasca, Roberto and Tafuri, Agostino and Laurenti, Luca and Piazza, Silvano and Dimovski, Aleksandar J. and Gattei, Valter and Efremov, Dimitar G.}, |