Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia

Cancer Genetics - Tập 208 - Trang 115-128 - 2015
Daria V. Babushok1,2, Nieves Perdigones2, Juan C. Perin3, Timothy S. Olson2, Wenda Ye2, Jacquelyn J. Roth4,5, Curt Lind6,7, Carine Cattier2, Yimei Li8, Helge Hartung2, Michele E. Paessler6, Dale M. Frank4, Hongbo M. Xie3, Shanna Cross2, Joshua D. Cockroft2, Gregory M. Podsakoff9, Dimitrios Monos6,7, Jaclyn A. Biegel6,7, Philip J. Mason2, Monica Bessler1,2
1Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA
2Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
3Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
4Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA
5Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania USA
6Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
7Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
8Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
9Center for Cellular and Molecular Therapeutics, Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Tài liệu tham khảo

Young, 1997, The pathophysiology of acquired aplastic anemia, N Engl J Med, 336, 1365, 10.1056/NEJM199705083361906 Socie, 1993, Malignant tumors occurring after treatment of aplastic anemia. European bone marrow Transplantation-severe aplastic anaemia working Party, N Engl J Med, 329, 1152115, 10.1056/NEJM199310143291603 Young, 2002, The relationship of aplastic anemia and PNH, Int J Hematol, 76, 168, 10.1007/BF03165111 Dunn, 1999, Paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure syndromes, Ann Intern Med, 131, 401, 10.7326/0003-4819-131-6-199909210-00002 Katagiri, 2011, Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia, Blood, 118, 6601, 10.1182/blood-2011-07-365189 Babushok, 2014, Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes, Br J Haematol, 164, 73, 10.1111/bjh.12603 Afable, 2011, SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes, Blood, 117, 6876, 10.1182/blood-2010-11-314393 Kulasekararaj, 2014, Somatic mutations identify a sub-group of aplastic anemia patients that progress to myelodysplastic syndrome, Blood, 124, 2698, 10.1182/blood-2014-05-574889 Lane, 2013, Low frequency clonal mutations recoverable by deep sequencing in patients with aplastic anemia, Leukemia, 27, 968, 10.1038/leu.2013.30 Heuser, 2014, Genetic characterization of acquired aplastic anemia by targeted sequencing, Haematologica, 99, e165, 10.3324/haematol.2013.101642 Dumitriu, 2015, Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia, Blood, 125, 706, 10.1182/blood-2014-10-607572 1987, Incidence of aplastic anemia: the relevance of diagnostic criteria. By the International Agranulocytosis and Aplastic Anemia Study, Blood, 70, 1718, 10.1182/blood.V70.6.1718.1718 Swerdlow, 2008 1988, American academy of pediatrics Council on child and adolescent health: age limits of pediatrics, Pediatrics, 81, 736, 10.1542/peds.81.5.736 Koboldt, 2012, VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing, Genome Res, 22, 568, 10.1101/gr.129684.111 Thorvaldsdottir, 2013, Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration, Brief Bioinformatics, 14, 178, 10.1093/bib/bbs017 Mardis, 2009, Recurring mutations found by sequencing an acute myeloid leukemia genome, N Engl J Med, 361, 1058, 10.1056/NEJMoa0903840 Lind, 2010, Next-generation sequencing: the solution for high-resolution, unambiguous human leukocyte antigen typing, Hum Immunol, 71, 1033, 10.1016/j.humimm.2010.06.016 Du, 2007, Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome, Aging Cell, 6, 689, 10.1111/j.1474-9726.2007.00324.x Luo, 2001, Detection of clonal T-cell receptor gamma gene rearrangements using fluorescent-based PCR and automated high-resolution capillary electrophoresis, Mol Diagn, 6, 169 Wang, 2013, Web-based GEne SeT AnaLysis toolkit (WebGestalt): update 2013, Nucleic Acids Res, 41, W77, 10.1093/nar/gkt439 Benjamini, 1995, Controlling the false discovery rate: a practical and powerful approach to multiple testing, J R Stat Soc, 57, 289 Shen, 2014, Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria, J Clin Invest, 124, 4529, 10.1172/JCI74747 Rajala, 2013, Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia, Blood, 121, 4541, 10.1182/blood-2012-12-474577 Patton, 1990, Activation of type II calcium/calmodulin-dependent protein kinase by Ca2+/calmodulin is inhibited by autophosphorylation of threonine within the calmodulin-binding domain, J Biol Chem, 265, 11204, 10.1016/S0021-9258(19)38577-1 Hanson, 1992, Inhibitory autophosphorylation of multifunctional Ca2+/calmodulin-dependent protein kinase analyzed by site-directed mutagenesis, J Biol Chem, 267, 17216, 10.1016/S0021-9258(18)41915-1 Heuser, 2013, 2470 Mikhailova, 1996, Cytogenetic abnormalities in patients with severe aplastic anemia, Haematologica, 81, 418 Rioux, 2009, Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases, Proc Natl Acad Sci U S A, 106, 18680, 10.1073/pnas.0909307106 Osumi, 2013, Nonsense mutation in HLA-B*40:02 in a case with acquired aplastic anaemia: a possible origin of clonal escape from autoimmune insult, Br J Haematol, 162, 706, 10.1111/bjh.12395 Bessler, 1994, Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria, Lancet, 343, 951, 10.1016/S0140-6736(94)90068-X Betensky M, Babushok DV, Roth JJ, et al. Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. American Society of Hematology Annual Meeting. San Francisco, CA; December 6–9, Blood 124, 2014, 4387. Si, 2008, Activated Ca2+/calmodulin-dependent protein kinase IIgamma is a critical regulator of myeloid leukemia cell proliferation, Cancer Res, 68, 3733, 10.1158/0008-5472.CAN-07-2509 Si, 2007, CaMKII regulates retinoic acid receptor transcriptional activity and the differentiation of myeloid leukemia cells, J Clin Invest, 117, 1412, 10.1172/JCI30779 Kubokawa, 2011, Interaction between calcineurin and Ca/calmodulin kinase-II in modulating cellular functions, Enzyme Res, 2011, 587359, 10.4061/2011/587359 Welch, 2012, The origin and evolution of mutations in acute myeloid leukemia, Cell, 150, 264, 10.1016/j.cell.2012.06.023 Busque, 2012, Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis, Nat Genet, 44, 1179, 10.1038/ng.2413 Busque, 1996, Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age, Blood, 88, 59, 10.1182/blood.V88.1.59.59 Mossner, 2013, Skewed X-inactivation patterns in ageing healthy and myelodysplastic haematopoiesis determined by a pyrosequencing based transcriptional clonality assay, J Med Genet, 50, 108, 10.1136/jmedgenet-2012-101093 Holstege, 2014, Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis, Genome Res, 24, 733, 10.1101/gr.162131.113 Xie, 2014, Age-related mutations associated with clonal hematopoietic expansion and malignancies, Nat Med, 20, 1472, 10.1038/nm.3733 Genovese, 2014, Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence, N Engl J Med, 371, 2477, 10.1056/NEJMoa1409405 Jaiswal, 2014, Age-related clonal hematopoiesis associated with adverse outcomes, N Engl J Med, 371, 2488, 10.1056/NEJMoa1408617