Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209–49.
Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the world health organization classification of Haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703–19.
Article PubMed PubMed Central Google Scholar
de Matos SR, Shirasaki R, Downey-Kopyscinski SL, Matthews GM, Barwick BG, Gupta VA, et al. Genome-scale functional genomics identify genes preferentially essential for multiple myeloma cells compared to other neoplasias. Nat Cancer. 2023;4(5):754–73.
Ishio T, Kumar S, Shimono J, Daenthanasanmak A, Dubois S, Lin Y, et al. Genome-wide CRISPR screen identifies CDK6 as a therapeutic target in adult T-cell leukemia/lymphoma. Blood. 2022;139(10):1541–56.
Article CAS PubMed PubMed Central Google Scholar
Weber J, de la Rosa J, Grove CS, Schick M, Rad L, Baranov O, et al. PiggyBac transposon tools for recessive screening identify B-cell lymphoma drivers in mice. Nat Commun. 2019;10(1):1415.
Article PubMed PubMed Central Google Scholar
Vantyghem S, Peterlin P, Thépot S, Ménard A, Dubruille V, Debord C, et al. Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study. Haematologica. 2021;106(3):701–07.
Article CAS PubMed Google Scholar
Ramkissoon LA, Montgomery ND. Applications of next-generation sequencing in hematologic malignancies. Hum Immunol. 2021;82(11):859–70.
Article CAS PubMed Google Scholar
Alaggio R, Amador C, Anagnostopoulos I, Attygalle AD, de Araujo IBO, Berti E, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms. Leukemia. 2022;36(7):1720–48.
Article PubMed PubMed Central Google Scholar
Arber DA, Orazi A, Hasserjian RP, Borowitz MJ, Calvo KR, Kvasnicka HM, et al. International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022;140(11):1200–28.
Article CAS PubMed PubMed Central Google Scholar
Campo E, Jaffe ES, Cook JR, Quintanilla-Martinez L, Swerdlow SH, Anderson KC, et al. The international consensus classification of mature lymphoid neoplasms: a report from the clinical advisory committee. Blood. 2022;140(11):1229–53.
Article CAS PubMed PubMed Central Google Scholar
Ostroverkhova D, Przytycka TM, Panchenko AR. Cancer driver mutations: predictions and reality. Trends Mol Med. 2023;29(7):554–66.
Article CAS PubMed Google Scholar
Nussinov R, Tsai CJ, Jang H. Why are some driver mutations rare? Trends Pharmacol Sci. 2019;40(12):919–29.
Article CAS PubMed Google Scholar
Esai Selvan M, Onel K, Gnjatic S, Klein RJ, Gümüş ZH. Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics. Npj Precis Oncol. 2023;7(1):1–12.
Kuan-lin Huang, R. Jay Mash, Yige Wu et al. Cell. 173;(2)355–70.e14. https://doi.org/10.1016/j.cell.2018.03.039.
Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MDM, Wendl MC, et al. Integrated analysis of germline and somatic variants in ovarian cancer. Nat Commun. 2014;5(1):3156.
Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MDM, et al. Patterns and functional implications of rare germline variants across 12 cancer types. Nat Commun. 2015;6(1):10086.
Article CAS PubMed Google Scholar
Orgueira AM, López CM, Raíndo PA, Arias JÁD, Rodríguez AB, Pérez LB, et al. Detection of rare germline variants in the genomes of patients with B-cell neoplasms. Cancers. 2021;13(6):1340.
Article PubMed PubMed Central Google Scholar
Vali-Pour M, Park S, Espinosa-Carrasco J, Ortiz-Martínez D, Lehner B, Supek F. The impact of rare germline variants on human somatic mutation processes. Nat Commun. 2022;13(1):3724.
Article CAS PubMed PubMed Central Google Scholar
Calabrese C, Davidson NR, Demircioğlu D, Fonseca NA, He Y, Kahles A, et al. Genomic basis for RNA alterations in cancer. Nature. 2020;578(7793):129–36.
Article CAS PubMed PubMed Central Google Scholar
Hautin M, Mornet C, Chauveau A, Bernard D, Corcos L, Lippert E. Splicing Anomalies in Myeloproliferative Neoplasms: Paving the Way for New Therapeutic Venues. Cancers. 2020;12(8):2216.
Article CAS PubMed PubMed Central Google Scholar
Grinev VV, Barneh F, Ilyushonak IM, Nakjang S, Smink J, Van Oort A, et al. RUNX1/RUNX1T1 mediates alternative splicing and reorganises the transcriptional landscape in leukemia. Nat Commun. 2021;12(1):520.
Article CAS PubMed PubMed Central Google Scholar
Tanaka A, Nakano TA, Nomura M, Yamazaki H, Bewersdorf JP, Mulet-Lazaro R, et al. Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia. Blood. 2022;140(8):875–88.
Article CAS PubMed PubMed Central Google Scholar
Obeng EA. Mutant SF3B1 splices a more leukemogenic EVI1. Blood. 2022;140(8):800–1.
Article CAS PubMed Google Scholar
Huber S, Haferlach T, Meggendorfer M, Hutter S, Hoermann G, Baer C, et al. SF3B1 mutations in AML are strongly associated with MECOM rearrangements and may be indicative of an MDS pre-phase. Leukemia. 2022;36(12):2927–30.
Article CAS PubMed PubMed Central Google Scholar
Yang YT, Chiu YC, Kao CJ, Hou HA, Lin CC, Tsai CH, et al. The prognostic significance of global aberrant alternative splicing in patients with myelodysplastic syndrome. Blood Cancer J. 2018;8(8):78.
Szelest M, Masternak M, Zając M, Chojnacki M, Skórka K, Zaleska J, et al. The role of NPM1 alternative splicing in patients with chronic lymphocytic leukemia. PLoS One. 2022;17(10):e0276674.
Article CAS PubMed PubMed Central Google Scholar
Dlamini Z, Shoba B, Hull R. Splicing machinery genomics events in acute myeloid leukaemia (AML): in search for therapeutic targets, diagnostic and prognostic biomarkers. Am J Cancer Res. 2020;10(9):2690–704.
CAS PubMed PubMed Central Google Scholar
Rivera OD, Mallory MJ, Quesnel-Vallières M, Chatrikhi R, Schultz DC, Carroll M, et al. Alternative splicing redefines landscape of commonly mutated genes in acute myeloid leukemia. Proc Natl Acad Sci. 2021;118(15):e2014967118.
Article CAS PubMed PubMed Central Google Scholar
Black KL, Naqvi AS, Asnani M, Hayer KE, Yang SY, Gillespie E, et al. Aberrant splicing in B-cell acute lymphoblastic leukemia. Nucleic Acids Res. 2018;46(21):11357–69.
CAS PubMed PubMed Central Google Scholar
Huber S, Haferlach T, Meggendorfer M, Hutter S, Hoermann G, Summerer I, et al. Mutations in spliceosome genes in myelodysplastic neoplasms and their association to ring sideroblasts. Leukemia. 2023;37(2):500–2.
Article CAS PubMed Google Scholar
Lewis RE, Cruse JM, Sanders CM, Webb RN, Suggs JL. Aberrant expression of T-cell markers in acute myeloid leukemia. Exp Mol Pathol. 2007;83(3):462–3.
Article CAS PubMed Google Scholar
Collins S, Coleman H, Groudine M. Expression of bcr and bcr-abl fusion transcripts in normal and leukemic cells. Mol Cell Biol. 1987;7(8):2870–6.
CAS PubMed PubMed Central Google Scholar
Rimokh R, Berger F, Bastard C, Klein B, French M, Archimbaud E, et al. Rearrangement of CCND1 (BCL1/PRAD1) 3’ untranslated region in mantle- cell lymphomas and t(11q13)-associated leukemias. Blood. 1994;83(12):3689–96.
Article CAS PubMed Google Scholar
Sveen A, Kilpinen S, Ruusulehto A, Lothe RA, Skotheim RI. Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes. Oncogene. 2016;35(19):2413–27.
Article CAS PubMed Google Scholar
Nakai H, Kaneko H, Horiike S, Ariyama Y, Misawa S, Kashima K, et al. Multiple aberrant splicing of the p53 transcript without genomic mutations around exon-intron junctions in a case of chronic myelogenous leukaemia in blast crisis: a possible novel mechanism of p53 inactivation. Br J Haematol. 1994;87(4):839–42.
Article CAS PubMed Google Scholar
Wagner N, Çelik MH, Hölzlwimmer FR, Mertes C, Prokisch H, Yépez VA, et al. Aberrant splicing prediction across human tissues. Nat Genet. 2023;55(5):861–70.
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