Guru Murthy GS, Pemmaraju N, Atallah E. Epidemiology and survival of blastic plasmacytoid dendritic cell neoplasm. Leuk Res. 2018;73:21–23.
Google Scholar
Nomburg J, Bullman S, Chung SS, Togami K, Walker MA, Griffin GK, et al. Comprehensive metagenomic analysis of blastic plasmacytoid dendritic cell neoplasm. Blood Adv. 2020;4:1006–11.
Google Scholar
Pemmaraju N, Wilson N, Khoury J, Jain N, Daver N, Pierce S, et al. Central nervous system involvement in blastic plasmacytoid dendritic cell neoplasm. Blood. 2022;138:1373–7.
Google Scholar
Sweet K. Blastic plasmacytoid dendritic cell neoplasm: diagnosis, manifestations, and treatment. Curr Opin Hematol. 2020;27:103–7.
Google Scholar
Renosi F, Roggy A, Giguelay A, Soret L, Viailly PJ, Cheok M, et al. Transcriptomic and genomic heterogeneity in blastic plasmacytoid dendritic cell neoplasms: from ontogeny to oncogenesis. Blood Adv. 2021;5:1540–51.
Google Scholar
Menezes J, Acquadro F, Wiseman M, Gomez-Lopez G, Salgado RN, Talavera-Casanas JG, et al. Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm. Leukemia. 2014;28:823–9.
Google Scholar
Batta K, Bossenbroek HM, Pemmaraju N, Wilks DP, Chasty R, Dennis M, et al. Divergent clonal evolution of blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia from a shared TET2-mutated origin. Leukemia. 2021;35:3299–303.
Google Scholar
Denker S, Kunstner A, Schwarting J, Witte HM, Bernard V, Stolting S, et al. Clonal evolution and blastic plasmacytoid dendritic cell neoplasm: malignancies of divergent hematopoietic lineages emerging from a common founding clone. Leukemia. 2024;38:1858–61.
Google Scholar
Yin CC, Pemmaraju N, You MJ, Li S, Xu J, Wang W, et al. Integrated clinical genotype-phenotype characteristics of blastic plasmacytoid dendritic cell neoplasm. Cancers. 2021;13:5888.
Fei F, Telatar M, Tomasian V, Chang L, Danilova O, Arias-Stella J, et al. Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: a single institution experience. Oncotarget. 2025;16:495–507.
Google Scholar
Zhang X, Hsi ED, Crane GM, Cheng Y-W. Biallelic TET2 mutations and canonical ASXL1 mutations are frequent and cooccur in Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN): an institutional experience and review of literature. eJHaem. 2023;200:264–5.
Beird HC, Khan M, Wang F, Alfayez M, Cai T, Zhao L, et al. Features of non-activation dendritic state and immune deficiency in blastic plasmacytoid dendritic cell neoplasm (BPDCN). Blood Cancer J. 2019;9:99.
Google Scholar
Bunin A, Sisirak V, Ghosh HS, Grajkowska LT, Hou ZE, Miron M, et al. Protein tyrosine phosphatase PTPRS is an inhibitory receptor on human and murine plasmacytoid dendritic cells. Immunity. 2015;43:277–88.
Google Scholar
Togami K, Chung SS, Madan V, Booth CAG, Kenyon CM, Cabal-Hierro L, et al. Sex-biased ZRSR2 mutations in myeloid malignancies impair plasmacytoid dendritic cell activation and apoptosis. Cancer Discov. 2021;12:522–41.
DePasquale EAK, Ssozi D, Ainciburu M, Good J, Noel J, Villanueva MA, et al. Single-Cell Multiomics Reveals Clonal T-Cell Expansions and Exhaustion in Blastic Plasmacytoid Dendritic Cell Neoplasm. Front Immunol. 2022;13:809414.
Google Scholar
Pemmaraju N, Lane AA, Sweet KL, Stein AS, Vasu S, Blum W, et al. Tagraxofusp in Blastic Plasmacytoid Dendritic-Cell Neoplasm. N Engl J Med. 2019;380:1628–37.
Google Scholar
Pemmaraju N, Sweet KL, Stein AS, Wang ES, Rizzieri DA, Vasu S, et al. Long-term benefits of tagraxofusp for patients with blastic plasmacytoid dendritic cell neoplasm. J Clin Oncol. 2022;40:3032–36.
Zheng GX, Terry JM, Belgrader P, Ryvkin P, Bent ZW, Wilson R, et al. Massively parallel digital transcriptional profiling of single cells. Nat Commun. 2017;8:14049.
Google Scholar
Hao Y, Hao S, Andersen-Nissen E, Mauck WM 3rd, Zheng S, et al. Integrated analysis of multimodal single-cell data. Cell. 2021;184:3573–87.e3529.
Google Scholar
Tickle T, Tirosh I, Georgescu C, Brown M, Haas B (2019). inferCNV of the Trinity CTAT Project.. Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, MA, USA. https://github.com/broadinstitute/inferCNV.
Chunn LM, Nefcy DC, Scouten RW, Tarpey RP, Chauhan G, Lim MS, et al. Mastermind: a comprehensive genomic association search engine for empirical evidence curation and genetic variant interpretation. Front Genet. 2020;11:577152.
Google Scholar
Kannan S, Li Y, Baran N, Yang X, Ghotbaldini S, Zhang Tatarata Q, et al. Antileukemia efficacy of the dual BCL2/BCL-XL inhibitor AZD0466 in acute lymphoblastic leukemia preclinical models. Blood Adv. 2025;9:473–87.
Google Scholar
Chen EY, Tan CM, Kou Y, Duan Q, Wang Z, Meirelles GV, et al. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool. BMC Bioinforma. 2013;14:128.
Google Scholar
Hanzelmann S, Castelo R, Guinney J. GSVA: gene set variation analysis for microarray and RNA-seq data. BMC Bioinforma. 2013;14:7.
Google Scholar
Takahashi K, Hu B, Wang F, Yan Y, Kim E, Vitale C, et al. Clinical implications of cancer gene mutations in patients with chronic lymphocytic leukemia treated with lenalidomide. Blood. 2018;131:1820–32.
Google Scholar
Khanlari M, Yin CC, Takahashi K, Lachowiez C, Tang G, Loghavi S, et al. Bone marrow clonal hematopoiesis is highly prevalent in blastic plasmacytoid dendritic cell neoplasm and frequently shares a clonal origin in elderly patients. Leukemia 2022;36:1343–50.
Yang F, Long N, Anekpuritanang T, Bottomly D, Savage JC, Lee T, et al. Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML. Blood. 2022;139:1208–21.
Google Scholar
Merlevede J, Droin N, Qin T, Meldi K, Yoshida K, Morabito M, et al. Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents. Nat Commun. 2016;7:10767.
Google Scholar
Kunimoto H, Nakajima H. TET2: A cornerstone in normal and malignant hematopoiesis. Cancer Sci. 2021;112:31–40.
Google Scholar
Zou Z, Dou X, Li Y, Zhang Z, Wang J, Gao B, et al. RNA m(5)C oxidation by TET2 regulates chromatin state and leukaemogenesis. Nature. 2024;634:986–94.
Google Scholar
Griffin GK, Booth CAG, Togami K, Chung SS, Ssozi D, Verga JA, et al. Ultraviolet radiation shapes dendritic cell leukaemia transformation in the skin. Nature. 2023;618:834–41.
Google Scholar
Afonina IS, Cullen SP, Martin SJ. Cytotoxic and non-cytotoxic roles of the CTL/NK protease granzyme B. Immunol Rev. 2010;235:105–16.
Google Scholar
Pierre P, Mellman I. Developmental regulation of invariant chain proteolysis controls MHC class II trafficking in mouse dendritic cells. Cell. 1998;93:1135–45.
Google Scholar
Lee DJ, Sieling PA, Ochoa MT, Krutzik SR, Guo B, Hernandez M, et al. LILRA2 activation inhibits dendritic cell differentiation and antigen presentation to T cells. J Immunol. 2007;179:8128–36.
Google Scholar
Schnell L, Dmochewitz-Kuck L, Feigl P, Montecucco C, Barth H. Thioredoxin reductase inhibitor auranofin prevents membrane transport of diphtheria toxin into the cytosol and protects human cells from intoxication. Toxicon. 2016;116:23–28.
Google Scholar
Stafford WC, Peng X, Olofsson MH, Zhang X, Luci DK, Lu L, et al. Irreversible inhibition of cytosolic thioredoxin reductase 1 as a mechanistic basis for anticancer therapy. Sci Transl Med. 2018;10:eaaf7444.
Zdzalik-Bielecka D, Poswiata A, Kozik K, Jastrzebski K, Schink KO, Brewinska-Olchowik M, et al. The GAS6-AXL signaling pathway triggers actin remodeling that drives membrane ruffling, macropinocytosis, and cancer-cell invasion. Proc Natl Acad Sci USA. 2021;118:e2024596118.
Beird HC, Yin CC, Khoury JD, Pierce SR, Abbas HA, Zhao L, et al. TET2 truncating mutations predict a worse outcome in blastic plasmacytoid dendritic cell neoplasm. Blood Adv. 2023;7:2000-3.
Kubota S, Tokunaga K, Umezu T, Yokomizo-Nakano T, Sun Y, Oshima M, et al. Lineage-specific RUNX2 super-enhancer activates MYC and promotes the development of blastic plasmacytoid dendritic cell neoplasm. Nat Commun. 2019;10:1653.
Google Scholar
Yu Z, Zhong L, Tang W, Zhang W, Lin T, Zhu W, et al. TET2-mediated 5-hydroxymethylcytosine of TXNIP promotes cell cycle arrest in systemic anaplastic large cell lymphoma. Clin Epigenet. 2025;17:10.
Google Scholar
Mahfoudhi E, Talhaoui I, Cabagnols X, Della Valle V, Secardin L, Rameau P, et al. TET2-mediated 5-hydroxymethylcytosine induces genetic instability and mutagenesis. DNA Repair. 2016;43:78–88.
Google Scholar
Feng Y, Li X, Cassady K, Zou Z, Zhang X. TET2 function in hematopoietic malignancies, immune regulation, and DNA repair. Front Oncol. 2019;9:210.
Google Scholar
Sapienza MR, Abate F, Melle F, Orecchioni S, Fuligni F, Etebari M, et al. Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target. Haematologica. 2019;104:729–37.
Google Scholar
Kunstner A, Schwarting J, Witte HM, Xing P, Bernard V, Stolting S, et al. Genome-wide DNA methylation analysis of blastic plasmacytoid dendritic cell neoplasm identifies distinct molecular features. Leukemia. 2024;38:1086–98.
Google Scholar
Papini E, Rappuoli R, Murgia M, Montecucco C. Cell penetration of diphtheria toxin. Reduction of the interchain disulfide bridge is the rate-limiting step of translocation in the cytosol. J Biol Chem. 1993;268:1567–74.
Google Scholar
Ott L, Moller J, Burkovski A. Interactions between the Re-emerging pathogen Corynebacterium diphtheriae and host cells. Int J Mol Sci. 2022;23:3298.
Ratts R, Zeng H, Berg EA, Blue C, McComb ME, Costello CE, et al. The cytosolic entry of diphtheria toxin catalytic domain requires a host cell cytosolic translocation factor complex. J Cell Biol. 2003;160:1139–50.
Google Scholar
Togami K, Pastika T, Stephansky J, Ghandi M, Christie AL, Jones KL, et al. DNA methyltransferase inhibition overcomes diphthamide pathway deficiencies underlying CD123-targeted treatment resistance. J Clin Investig. 2019;129:5005–19.
Google Scholar
Ball BJ, Hsu M, Devlin SM, Arcila M, Roshal M, Zhang Y, et al. The prognosis and durable clearance of RAS mutations in patients with acute myeloid leukemia receiving induction chemotherapy. Am J Hematol. 2021;96:E171–E175.
Google Scholar
Rivera D, Kim K, Kanagal-Shamanna R, Borthakur G, Montalban-Bravo G, Daver N, et al. Implications of RAS mutational status in subsets of patients with newly diagnosed acute myeloid leukemia across therapy subtypes. Am J Hematol. 2022;97:1599–606.
Google Scholar
Zhou JD, Yao DM, Li XX, Zhang TJ, Zhang W, Ma JC, et al. KRAS overexpression independent of RAS mutations confers an adverse prognosis in cytogenetically normal acute myeloid leukemia. Oncotarget. 2017;8:66087–97.
Google Scholar
Sindhu S, Kochumon S, Shenouda S, Wilson A, Al-Mulla F, Ahmad R. The cooperative induction of CCL4 in human monocytic cells by TNF-alpha and palmitate requires MyD88 and involves MAPK/NF-kappaB signaling pathways. Int J Mol Sci. 2019;20:4658.
Fuster JJ, MacLauchlan S, Zuriaga MA, Polackal MN, Ostriker AC, Chakraborty R, et al. Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice. Science. 2017;355:842–7.
Google Scholar
Cai Z, Kotzin JJ, Ramdas B, Chen S, Nelanuthala S, Palam LR, et al. Inhibition of inflammatory signaling in Tet2 mutant preleukemic cells mitigates stress-induced abnormalities and clonal hematopoiesis. Cell Stem Cell. 2018;23:833–849.e835.
Google Scholar
Agrawal M, Niroula A, Cunin P, McConkey M, Shkolnik V, Kim PG, et al. TET2-mutant clonal hematopoiesis and risk of gout. Blood. 2022;140:1094–103.
Google Scholar
Sano S, Oshima K, Wang Y, Katanasaka Y, Sano M, Walsh K. CRISPR-mediated gene editing to assess the roles of Tet2 and Dnmt3a in clonal hematopoiesis and cardiovascular disease. Circ Res. 2018;123:335–41.
Google Scholar
Bernard JJ, Gallo RL, Krutmann J. Photoimmunology: how ultraviolet radiation affects the immune system. Nat Rev Immunol. 2019;19:688–701.
Google Scholar
Pagano L, Valentini CG, Grammatico S, Pulsoni A. Blastic plasmacytoid dendritic cell neoplasm: diagnostic criteria and therapeutical approaches. Br J Haematol. 2016;174:188–202.
Google Scholar
Pemmaraju N. Targeting the p-D-C: easy as C-D-1-2-3? Blood. 2021;137:1277–8.
Google Scholar
Lane AA, Garcia JS, Raulston EG, Garzon JL, Galinsky I, Baxter EW, et al. Phase 1b trial of tagraxofusp in combination with azacitidine with or without venetoclax in acute myeloid leukemia. Blood Adv. 2024;8:591–602.
Google Scholar
