Inherited bone marrow failure syndromes in 2012

International Journal of Hematology

Volumn 97, Issue 1, 2013, Pages 20-29

  Sakaguchi, Hirotoshi ^a   Nakanishi, Koji ^a   Kojima, Seiji ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Diamond Blackfan anemia; Dyskeratosis congenita; Fanconi anemia; Inherited bone marrow failure syndrome

Indexed keywords

ACETALDEHYDE; ALCOHOL DEHYDROGENASE; ALDEHYDE DEHYDROGENASE; ALDEHYDE DEHYDROGENASE ISOENZYME 2; CISPLATIN; CORTICOSTEROID; CYCLOPHOSPHAMIDE; GREEN FLUORESCENT PROTEIN; LEUCINE; MITOMYCIN; PROTEIN P53; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE;

ACUTE MYELOBLASTIC LEUKEMIA; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ALLOGENEIC STEM CELL TRANSPLANTATION; ALLOGENIC BONE MARROW TRANSPLANTATION; APLASTIC ANEMIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLACKFAN DIAMOND ANEMIA; BONE MARROW DEPRESSION; DISEASE ASSOCIATION; DNA CROSS LINKING; DYSKERATOSIS CONGENITA; FANCONI ANEMIA; GENE DOSAGE; GENE MUTATION; GROWTH RETARDATION; HEMATOLOGICAL PARAMETERS; HUMAN; IMMUNE DEFICIENCY; LIVE BIRTH; MOLECULAR PATHOLOGY; MYELODYSPLASTIC SYNDROME; MYELOID LEUKEMIA; NONMYELOABLATIVE CONDITIONING; OSTEOSARCOMA; PATHOPHYSIOLOGY; PROGNOSIS; PROSPECTIVE STUDY;

ANEMIA, DIAMOND-BLACKFAN; ANIMALS; DYSKERATOSIS CONGENITA; FANCONI ANEMIA; HEMOGLOBINURIA, PAROXYSMAL; HUMANS;

EID: 84872967771     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-012-1249-9     Document Type: Article

References (72)

1. Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet. 2001;2:446-57. (Pubitemid 33673411)
2. Kim H, D'Andrea AD. Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway. Genes Dev. 2012;26:1393-408.
3. D'Andrea AD, Grompe M. The Fanconi anaemia/BRCA pathway. Nat Rev Cancer. 2003;3:23-34. (Pubitemid 37328884)
4. Alter BP, Rosenberg PS, Brody LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet. 2007;44:1-9. (Pubitemid 46142832)
5. Rosenberg PS, Socie G, Alter BP, Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood. 2005;105:67-73. (Pubitemid 40053065)
6. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M. A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet. 1993;4:202-5. (Pubitemid 23179108)
7. Gibson RA, Hajianpour A, Murer-Orlando M, Buchwald M, Mathew CG. A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet. 1993;2:797-9. (Pubitemid 23197528)
8. Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, et al. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell. 2001;7:249-62. (Pubitemid 32206493)
9. Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER 3rd, Hurov KE, Luo J, et al. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell. 2007;129:289-301. (Pubitemid 46584733)
10. Carreau M. Not-so-novel phenotypes in the Fanconi anemia group D2 mouse model. Blood. 2004;103:2430. (Pubitemid 38326272)
11. Marietta C, Thompson LH, Lamerdin JE, Brooks PJ. Acetaldehyde stimulates FANCD2 monoubiquitination, H2AX phosphorylation, and BRCA1 phosphorylation in human cells in vitro: implications for alcohol-related carcinogenesis. Mutat Res. 2009;664:77-83.
12. Langevin F, Crossan GP, Rosado IV, Arends MJ, Patel KJ. Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice. Nature. 2011;475:53-8.
13. Garaycoechea JI, Crossan GP, Langevin F, Daly M, Arends MJ, Patel KJ. Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function. Nature. 2012;489:571-5.
14. Moynahan ME, Chiu JW, Koller BH, Jasin M. Brca1 controls homology-directed DNA repair. Mol Cell. 1999;4:511-8. (Pubitemid 29531131)
15. Moynahan ME, Pierce AJ, Jasin M. BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell. 2001;7:263-72. (Pubitemid 32206494)
16. Nakanishi K, Yang YG, Pierce AJ, Taniguchi T, Digweed M, D'Andrea AD, et al. Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair. Proc Natl Acad Sci USA. 2005;102:1110-5. (Pubitemid 40170734)
17. Raschle M, Knipscheer P, Enoiu M, Angelov T, Sun J, Griffith JD, et al. Mechanism of replication-coupled DNA interstrand crosslink repair. Cell. 2008;134:969-80.
18. Knipscheer P, Raschle M, Smogorzewska A, Enoiu M, Ho TV, Scharer OD, et al. The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science. 2009;2009(326):1698-701.
19. Nakanishi K, Cavallo F, Perrouault L, Giovannangeli C, Moynahan ME, Barchi M, et al. Homology-directed Fanconi anemia pathway cross-link repair is dependent on DNA replication. Nat Struct Mol Biol. 2011;18:500-3.
20. Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin HS, editors. Hematology of infancy and childhood, vol 1. Philadelphia: Saunders; 1998. p. 237-335.
21. Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Incidence of neoplasia in Diamond Blackfan anemia: A report from the Diamond Blackfan Anemia Registry. Blood. 2012;119:3815-9.
22. Mugishima H, Ohga S, Ohara A, Kojima S, Fujisawa K, For the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology. Hematopoietic stem cell transplantation for Diamond-Blackfan anemia: A report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology. Pediatr Transpl. 2007;11:601-7. (Pubitemid 47174383)
23. Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999;21:169-75. (Pubitemid 29070361)
24. Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, et al. The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Hum Mutat. 2010;31:1269-79.
25. Konno Y, Toki T, Tandai S, Xu G, Wang R, Terui K, et al. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. Haematologica. 2010;95:1293-9.
26. Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, et al. Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood. 2012;119:2376-84.
27. Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, et al. Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood. 2011;118:6943-51.
28. Sankaran VG, Ghazvinian R, Do R, Thiru P, Vergilio JA, Beggs AH, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012;122:2439-43.
29. Danilova N, Sakamoto KM, Lin S. Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. Blood. 2008;112:5228-37.
30. Sieff CA, Yang J, Merida-Long LB, Lodish HF. Pathogenesis of the erythroid failure in Diamond Blackfan anaemia. Br J Haematol. 2010;148:611-22.
31. Dutt S, Narla A, Lin K, Mullally A, Abayasekara N, Megerdichian C, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood. 2011;117:2567-76.
32. Payne EM, Virgilio M, Narla A, Sun H, Levine M, Paw BH, et al. l-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway. Blood. 2012;120:2214-24.
33. Jaako P, Debnath S, Olsson K, Bryder D, Flygare J, Karlsson S. Dietary l-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia. Blood. 2012;120:2225-8.
34. Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta. 2009;1792:371-9.
35. Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature. 1999;402:551-5.
36. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000;110:768-79.
37. Walne AJ, Dokal I. Advances in the understanding of dyskera-tosis congenita. Br J Haematol. 2009;145:164-72.
38. Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood. 2006;107:2680-5.
39. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet. 1998;19:32-8. (Pubitemid 28242019)
40. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001;413:432-5. (Pubitemid 32928599)
41. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dys- keratosis congenita. Proc Natl Acad Sci USA. 2005;102:15960-4. (Pubitemid 41552850)
42. Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, et al. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007;110:4198-205. (Pubitemid 351377783)
43. Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007;16:1619-29. (Pubitemid 47050675)
44. Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, et al. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci USA. 2008;105:8073-8. (Pubitemid 351904710)
45. Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis. 2005;34:257-63. (Pubitemid 40693563)
46. Walne AJ, Dokal I. Dyskeratosis congenita: A historical perspective. Mech Ageing Dev. 2008;129:48-59. (Pubitemid 351199862)
47. Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008;82:501-9.
48. Zhong F, Savage SA, Shkreli M, et al. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev. 2011;25:11-6.
49. Venteicher AS, Abreu EB, Meng Z, McCann KE, Terns RM, Veenstra TD, Terns MP, Artandi SE. A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. Science. 2009;323:644-8.
50. Keller RB, Gagne KE, Usmani GN, Asdourian GK, Williams DA, Hofmann I, Agarwal S. CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer. 2012;59:311-4.
51. Du HY, Pumbo E, Ivanovich J, An P, Maziarz RT, Reiss UM, et al. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length mea- surements. Blood. 2009;113:309-16.
52. Du HY, Mason PJ, Bessler M, Wilson DB. TINF2 mutations in children with severe aplastic anemia. Pediatr Blood Cancer. 2009;52:687.
53. Liang J, Yagasaki H, Kamachi Y, Hama A, Matsumoto K, Kato K, et al. Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. Haematologica. 2006;91:656-8. (Pubitemid 43799463)
54. Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005;352:1413-24. (Pubitemid 40471449)
55. Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 2003;102:916-8. (Pubitemid 36917783)
56. Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet. 2002;359:2168-70. (Pubitemid 34694028)
57. Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA. 2007;104:7552-7. (Pubitemid 47185944)
58. Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007;356:1317-26. (Pubitemid 46513297)
59. Calado RT, Regal JA, Kleiner DE, Schrump DS, Peterson NR, Pons V, et al. A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS ONE. 2009;4:e7926.
60. Ball SE, Gibson FM, Rizzo S, Tooze JA, Marsh JC, Gordon-Smith EC. Progressive telomere shortening in aplastic anemia. Blood. 1998;91:3582-92. (Pubitemid 28225723)
61. Lee JJ, Kook H, Chung IJ, Na JA, Park MR, Hwang TJ, et al. Telomere length changes in patients with aplastic anaemia. Br J Haematol. 2001;112:1025-30. (Pubitemid 32322932)
62. Baerlocher GM, Vulto I, de Jong G, Lansdorp PM. Flow cytometry and FISH to measure the average length of telomeres (flow FISH). Nat Protoc. 2006;1:2365-76.
63. Canela A, Klatt P, Blasco MA. Telomere length analysis. Methods Mol Biol. 2007;371:45-72. (Pubitemid 350183417)
64. Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood. 2007;110:1439-47. (Pubitemid 47443958)
65. Calado RT, Yewdell WT, Wilkerson KL, Regal JA, Kajigaya S, Stratakis CA, et al. Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells. Blood. 2009;114:2236-43.
66. Alter BP, Gardner FH, Hall RE. Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin. Br J Haematol. 1997;97:309-11. (Pubitemid 27224610)
67. Giri N, Pitel PA, Green D, Alter BP. Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor. Br J Haematol. 2007;138:815-7. (Pubitemid 47313211)
68. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009;113:6549-57.
69. de la Fuente J, Dokal I. Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transpl. 2007;11:584-94. (Pubitemid 47174390)
70. Dietz AC, Orchard PJ, Baker KS, Giller RH, Savage SA, Alter BP, et al. Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. Bone Marrow Transpl. 2011;46:98-104.
71. Nishio N, Takahashi Y, Ohashi H, Doisaki S, Muramatsu H, Hama A, Shimada A, Yagasaki H, Kojima S. Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita. Pediatr Transpl. 2011;15:161-6.
72. Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, et al. Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients. Nature. 2010;464:292-6.