Myelodysplastic syndrome: An inability to appropriately respond to damaged DNA?
Tài liệu tham khảo
Chung, 2008, Transplantation of a myelodysplastic syndrome by a long-term repopulating hematopoietic cell, Proc Natl Acad Sci USA, 105, 14088, 10.1073/pnas.0804507105
Nilsson, 2007, The molecular signature of MDS stem cells supports a stem-cell origin of 5q myelodysplastic syndromes, Blood, 110, 3005, 10.1182/blood-2007-03-079368
Garcia-Manero, 2012, Myelodysplastic syndromes: 2012 update on diagnosis, risk-stratification, and management, Am J Hematol, 87, 692, 10.1002/ajh.23264
Vardiman, 2009, The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes, Blood, 114, 937, 10.1182/blood-2009-03-209262
Ma, 2012, Epidemiology of myelodysplastic syndromes, Am J Med, 125, S2, 10.1016/j.amjmed.2012.04.014
Barnard, 2005, Treatment-related myelodysplastic syndrome/acute myeloid leukemia in survivors of childhood cancer–an update, Leuk Lymphoma, 46, 651, 10.1080/10428190500051042
Bhatia, 2011, Treatment-related myelodysplastic syndrome: molecular characteristics and therapy, Curr Opin Hematol, 18, 77, 10.1097/MOH.0b013e328343997a
Elghetany, 2007, Myelodysplastic syndromes in children: A critical review of issues in the diagnosis and classification of 887 cases from 13 published series, Arch Pathol Lab Med, 131, 1110, 10.5858/2007-131-1110-MSICAC
Leone, 2010, Incidence and susceptibility to therapy-related myeloid neoplasms, Chem Biol Interact, 184, 39, 10.1016/j.cbi.2009.12.013
Cioc, 2010, Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: Morphologic and cytogenetic characteristics, Am J Clin Pathol, 133, 92, 10.1309/AJCP7W9VMJENZOVG
Gadner, 1992, Experience in pediatric myelodysplastic syndromes, Hematol Oncol Clin North Am, 6, 655, 10.1016/S0889-8588(18)30334-4
Goto, 1996, Excess of rare cancers in Werner syndrome (adult progeria), Cancer Epidemiol Biomarkers Prev, 5, 239
Ilhan, 1996, Myelodysplastic syndromes and RTS, Pediatr Hematol Oncol, 13, 197, 10.3109/08880019609030815
Narayan, 2001, Rothmund-Thomson syndrome with myelodysplasia, Pediatr Dermatol, 18, 210, 10.1046/j.1525-1470.2001.018003210.x
Pianigiani, 2001, Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia, Pediatr Dermatol, 18, 422, 10.1046/j.1525-1470.2001.01971.x
Poppe, 2001, Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies, Cancer Genet Cytogenet, 128, 39, 10.1016/S0165-4608(01)00392-2
Rizzari, 1996, Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: A case report, J Pediatr Hematol Oncol, 18, 96, 10.1097/00043426-199602000-00020
Talwalkar, 2010, Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome, Arch Pathol Lab Med, 134, 1010, 10.5858/2009-0015-OA.1
Yamamoto, 2003, A report of two cases of Werner's syndrome and review of the literature, J Orthop Surg (Hong Kong), 11, 224, 10.1177/230949900301100222
Haase, 2007, New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients, Blood, 110, 4385, 10.1182/blood-2007-03-082404
Bejar, 2011, Unraveling the molecular pathophysiology of myelodysplastic syndromes, J Clin Oncol, 29, 504, 10.1200/JCO.2010.31.1175
Davids, 2010, The molecular pathogenesis of myelodysplastic syndromes, Cancer Biol Ther, 10, 309, 10.4161/cbt.10.4.12612
Graubert, 2011, Genetics of myelodysplastic syndromes: new insights, Hematology Am Soc Hematol Educ Program, 2011, 543, 10.1182/asheducation-2011.1.543
Raza, 2012, The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes, Nat Rev Cancer, 12, 849, 10.1038/nrc3321
Gilliland, 2001, Hematologic malignancies, Curr Opin Hematol, 8, 189, 10.1097/00062752-200107000-00001
Nolte, 2008, Myelodysplastic syndromes: molecular pathogenesis and genomic changes, Annals of hematology, 87, 777, 10.1007/s00277-008-0502-z
Sanz, 1989, Two regression models and a scoring system for predicting survival and planning treatment in myelodysplastic syndromes: a multivariate analysis of prognostic factors in 370 patients, Blood, 74, 395, 10.1182/blood.V74.1.395.395
Lin, 2005, NUP98-HOXD13 transgenic mice develop a highly penetrant, severe myelodysplastic syndrome that progresses to acute leukemia, Blood, 106, 287, 10.1182/blood-2004-12-4794
Ma, 2006, SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice, Blood, 108, 2726, 10.1182/blood-2006-02-001594
Watanabe-Okochi, 2008, AML1 mutations induced MDS and MDS/AML in a mouse BMT model, Blood, 111, 4297, 10.1182/blood-2007-01-068346
Wu, 2008, Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes, J Natl Cancer Inst, 100, 1247, 10.1093/jnci/djn253
Zimmer, 2012, Mice heterozygous for CREB binding protein are hypersensitive to gamma-radiation and invariably develop myelodysplastic/myeloproliferative neoplasm, Exp Hematol, 40, 295, 10.1016/j.exphem.2011.12.004
Slape, 2007, Retroviral insertional mutagenesis identifies genes that collaborate with NUP98-HOXD13 during leukemic transformation, Cancer Res, 67, 5148, 10.1158/0008-5472.CAN-07-0075
Slape, 2008, Leukemic transformation in mice expressing a NUP98-HOXD13 transgene is accompanied by spontaneous mutations in Nras, Kras, and Cbl, Blood, 112, 2017, 10.1182/blood-2008-01-135186
Nigg, 1995, Cyclin-dependent protein kinases: key regulators of the eukaryotic cell cycle, Bioessays, 17, 471, 10.1002/bies.950170603
Callegari, 2006, UV irradiation induces a postreplication DNA damage checkpoint, Proc Natl Acad Sci U S A, 103, 15877, 10.1073/pnas.0607343103
Duensing, 2006, A role of the mitotic spindle checkpoint in the cellular response to DNA replication stress, J Cell Biochem, 99, 759, 10.1002/jcb.20962
Quesnel, 1998, Methylation of the p15(INK4b) gene in myelodysplastic syndromes is frequent and acquired during disease progression, Blood, 91, 2985, 10.1182/blood.V91.8.2985.2985_2985_2990
Uchida, 1997, Hypermethylation of the p15INK4B gene in myelodysplastic syndromes, Blood, 90, 1403, 10.1182/blood.V90.4.1403
Ribeiro, 2013, ATM polymorphism is associated with low risk myelodysplastic syndrome, DNA Repair (Amst), 12, 87, 10.1016/j.dnarep.2012.10.010
Almeida, 2007, A unified view of base excision repair: lesion-dependent protein complexes regulated by post-translational modification, DNA Repair (Amst), 6, 695, 10.1016/j.dnarep.2007.01.009
Dimri, 1996, Replicative senescence, aging and growth-regulatory transcription factors, Biol Signals, 5, 154, 10.1159/000109185
Hitomi, 2007, The intricate structural chemistry of base excision repair machinery: implications for DNA damage recognition, removal, and repair, DNA Repair (Amst), 6, 410, 10.1016/j.dnarep.2006.10.004
Jankowska, 2008, Base excision repair dysfunction in a subgroup of patients with myelodysplastic syndrome, Leukemia, 22, 551, 10.1038/sj.leu.2405055
Novotna, 2009, Oxidative DNA damage in bone marrow cells of patients with low-risk myelodysplastic syndrome, Leuk Res, 33, 340, 10.1016/j.leukres.2008.07.005
Peddie, 1997, Oxidative DNA damage in CD34+ myelodysplastic cells is associated with intracellular redox changes and elevated plasma tumour necrosis factor-alpha concentration, Br J Haematol, 99, 625, 10.1046/j.1365-2141.1997.4373247.x
Kasparek, 2011, DNA double-strand break repair pathways, chromosomal rearrangements and cancer, Semin Cell Dev Biol, 22, 886, 10.1016/j.semcdb.2011.10.007
Burma, 2006, Role of non-homologous end joining (NHEJ) in maintaining genomic integrity, DNA Repair (Amst), 5, 1042, 10.1016/j.dnarep.2006.05.026
McVey, 2008, MMEJ repair of double-strand breaks (director’s cut): Deleted sequences and alternative endings, Trends Genetics, 24, 529, 10.1016/j.tig.2008.08.007
Omidvar, 2007, BCL-2 and mutant NRAS interact physically and functionally in a mouse model of progressive myelodysplasia, Cancer Res, 67, 11657, 10.1158/0008-5472.CAN-07-0196
Rassool, 2007, Reactive oxygen species, DNA damage, and error-prone repair: A model for genomic instability with progression in myeloid leukemia?, Cancer Res, 67, 8762, 10.1158/0008-5472.CAN-06-4807
Puthiyaveetil, 2013, Non-homologous end joining mediated DNA repair is impaired in the NUP98-HOXD13 mouse model for myelodysplastic syndrome, Leuk Res, 37, 112, 10.1016/j.leukres.2012.10.012
Puthiyaveetil, 2012, A NUP98-HOXD13 leukemic fusion gene leads to impaired class switch recombination and antibody production, Exp Hematol, 40, 622, 10.1016/j.exphem.2012.05.002
Buermeyer, 1999, Mammalian DNA mismatch repair, Annu Rev Genet, 33, 533, 10.1146/annurev.genet.33.1.533
Alemayehu, 2007, The MRE11/RAD50/NBS1 complex destabilization in Lynch-syndrome patients, Eur J Human Genet, 15, 922, 10.1038/sj.ejhg.5201858
Ben-Yehuda, 1996, Microsatellite instability and p53 mutations in therapy-related leukemia suggest mutator phenotype, Blood, 88, 4296, 10.1182/blood.V88.11.4296.bloodjournal88114296
Casorelli, 2003, Drug treatment in the development of mismatch repair defective acute leukemia and myelodysplastic syndrome, DNA Repair (Amst), 2, 547, 10.1016/S1568-7864(03)00020-X
Olipitz, 2002, Defective DNA-mismatch repair: a potential mediator of leukemogenic susceptibility in therapy-related myelodysplasia and leukemia, Genes Chromosomes Cancer, 34, 243, 10.1002/gcc.10059
Reese, 2003, Repopulating defect of mismatch repair-deficient hematopoietic stem cells, Blood, 102, 1626, 10.1182/blood-2002-10-3035
Kamileri, 2012, Nucleotide excision repair: new tricks with old bricks, Trends Genetics, 28, 566, 10.1016/j.tig.2012.06.004
Kuramoto, 2002, Chromosomal instability and radiosensitivity in myelodysplastic syndrome cells, Leukemia, 16, 2253, 10.1038/sj.leu.2402703
Carney, 2010, Therapy-related myelodysplastic syndrome and acute myeloid leukemia following fludarabine combination chemotherapy, Leukemia, 24, 2056, 10.1038/leu.2010.218
Tam, 2006, Treatment-related myelodysplasia following fludarabine combination chemotherapy, Haematologica, 91, 1546
Parker, 2000, The role of apoptosis, proliferation, and the Bcl-2-related proteins in the myelodysplastic syndromes and acute myeloid leukemia secondary to MDS, Blood, 96, 3932, 10.1182/blood.V96.12.3932
Tehranchi, 2003, Granulocyte colony-stimulating factor inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors, Blood, 101, 1080, 10.1182/blood-2002-06-1774
Tehranchi, 2005, Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes, Blood, 106, 247, 10.1182/blood-2004-12-4649
Claessens, 2002, In vitro proliferation and differentiation of erythroid progenitors from patients with myelodysplastic syndromes: evidence for Fas-dependent apoptosis, Blood, 99, 1594, 10.1182/blood.V99.5.1594
Davis, 1998, Bcl-2 expression by myeloid precursors in myelodysplastic syndromes: relation to disease progression, Leuk Res, 22, 767, 10.1016/S0145-2126(98)00051-4
Steensma, 2009, Rearrangements and amplification of IER3 (IEX-1) represent a novel and recurrent molecular abnormality in myelodysplastic syndromes, Cancer Res, 69, 7518, 10.1158/0008-5472.CAN-09-1428
Wang, 2009, Accelerated cellular senescence in myelodysplastic syndrome, Exp Hematol, 37, 1310, 10.1016/j.exphem.2009.09.002
Wang, 2012, A differentiation checkpoint limits hematopoietic stem cell self-renewal in response to DNA damage, Cell, 148, 1001, 10.1016/j.cell.2012.01.040
Mohrin, 2010, Hematopoietic stem cell quiescence promotes error-prone DNA repair and mutagenesis, Cell Stem Cell, 7, 174, 10.1016/j.stem.2010.06.014
Shao, 2012, A sensitive and quantitative polymerase chain reaction-based cell free in vitro non-homologous end joining assay for hematopoietic stem cells, PLoS One, 7, e33499, 10.1371/journal.pone.0033499
Milyavsky, 2010, A distinctive DNA damage response in human hematopoietic stem cells reveals an apoptosis-independent role for p53 in self-renewal, Cell Stem Cell, 7, 186, 10.1016/j.stem.2010.05.016
Ceccaldi, 2012, Bone marrow failure in fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells, Cell Stem Cell, 11, 36, 10.1016/j.stem.2012.05.013
Bender, 2002, Cancer predisposition and hematopoietic failure in Rad50(S/S) mice, Genes Dev, 16, 2237, 10.1101/gad.1007902
Dumble, 2007, The impact of altered p53 dosage on hematopoietic stem cell dynamics during aging, Blood, 109, 1736, 10.1182/blood-2006-03-010413
Ito, 2004, Regulation of oxidative stress by ATM is required for self-renewal of haematopoietic stem cells, Nature, 431, 997, 10.1038/nature02989
Morales, 2008, DNA damage signaling in hematopoietic cells: a role for Mre11 complex repair of topoisomerase lesions, Cancer Res, 68, 2186, 10.1158/0008-5472.CAN-07-2355
TeKippe, 2003, Expansion of hematopoietic stem cell phenotype and activity in Trp53-null mice, Exp Hematol, 31, 521, 10.1016/S0301-472X(03)00072-9
Zinkel, 2003, Proapoptotic BID is required for myeloid homeostasis and tumor suppression, Genes Dev, 17, 229, 10.1101/gad.1045603
Carreau, 1999, Hematopoietic compartment of Fanconi anemia group C null mice contains fewer lineage-negative CD34+ primitive hematopoietic cells and shows reduced reconstruction ability, Exp Hematol, 27, 1667, 10.1016/S0301-472X(99)00102-2
Chen, 1996, Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia, Nat Genet, 12, 448, 10.1038/ng0496-448
Haneline, 1999, Loss of FancC function results in decreased hematopoietic stem cell repopulating ability, Blood, 94, 1, 10.1182/blood.V94.1.1.413k03_1_8
Lucas, 2009, Altered hematopoiesis in mice lacking DNA polymerase mu is due to inefficient double-strand break repair, PLoS Genet, 5, e1000389, 10.1371/journal.pgen.1000389
Navarro, 2006, Hematopoietic dysfunction in a mouse model for Fanconi anemia group D1, Mol Ther, 14, 525, 10.1016/j.ymthe.2006.05.018
Nijnik, 2007, DNA repair is limiting for haematopoietic stem cells during ageing, Nature, 447, 686, 10.1038/nature05875
Parmar, 2010, Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1, Stem Cells, 28, 1186, 10.1002/stem.437
Prasher, 2005, Reduced hematopoietic reserves in DNA interstrand crosslink repair-deficient Ercc1-/- mice, EMBO J, 24, 861, 10.1038/sj.emboj.7600542
Rossi, 2007, Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age, Nature, 447, 725, 10.1038/nature05862
Whitney, 1996, Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene, Blood, 88, 49, 10.1182/blood.V88.1.49.49
Zhang, 2011, Congenital bone marrow failure in DNA-PKcs mutant mice associated with deficiencies in DNA repair, J Cell Biochem, 193, 295
Holmquist, 1998, Endogenous lesions, S-phase-independent spontaneous mutations, and evolutionary strategies for base excision repair, Mutat Res, 400, 59, 10.1016/S0027-5107(98)00051-7
Ito, 2006, Reactive oxygen species act through p38 MAPK to limit the lifespan of hematopoietic stem cells, Nat Med, 12, 446, 10.1038/nm1388
Tothova, 2007, FoxOs are critical mediators of hematopoietic stem cell resistance to physiologic oxidative stress, Cell, 128, 325, 10.1016/j.cell.2007.01.003
Kurimasa, 1999, Requirement for the kinase activity of human DNA-dependent protein kinase catalytic subunit in DNA strand break rejoining, Mol Cell Biol, 19, 3877, 10.1128/MCB.19.5.3877
Fagbemi, 2011, Regulation of endonuclease activity in human nucleotide excision repair, DNA Repair (Amst), 10, 722, 10.1016/j.dnarep.2011.04.022
Steensma, 2007, Anemia in the elderly: How should we define it, when does it matter, and what can be done?, Mayo Clin Proc, 82, 958, 10.4065/82.8.958
Damjanov, 2009, Blood, bone marrow, and the lymphoid system, 191
de Haan, 1997, Mouse strain-dependent changes in frequency and proliferation of hematopoietic stem cells during aging: correlation between lifespan and cycling activity, Blood, 89, 1543, 10.1182/blood.V89.5.1543
Harrison, 1989, Numbers and functions of transplantable primitive immunohematopoietic stem cells. Effects of age, J Immunol, 142, 3833, 10.4049/jimmunol.142.11.3833
Kamminga, 2005, Impaired hematopoietic stem cell functioning after serial transplantation and during normal aging, Stem Cells, 23, 82, 10.1634/stemcells.2004-0066
Morrison, 1996, The aging of hematopoietic stem cells, Nat Med, 2, 1011, 10.1038/nm0996-1011
Rossi, 2005, Cell intrinsic alterations underlie hematopoietic stem cell aging, Proc Natl Acad Sci U S A, 102, 9194, 10.1073/pnas.0503280102
Sudo, 2000, Age-associated characteristics of murine hematopoietic stem cells, J Exp Med, 192, 1273, 10.1084/jem.192.9.1273
Rube, 2011, Accumulation of DNA damage in hematopoietic stem and progenitor cells during human aging, PLoS One, 6, e17487, 10.1371/journal.pone.0017487
Chambers, 2007, Hematopoietic fingerprints: an expression database of stem cells and their progeny, Cell Stem Cell, 1, 578, 10.1016/j.stem.2007.10.003
Bouwman, 2012, The effects of deregulated DNA damage signalling on cancer chemotherapy response and resistance, Nat Rev Cancer, 12, 587, 10.1038/nrc3342