Clonal hematopoiesis in acquired aplastic anemia

Blood

Volumn 128, Issue 3, 2016, Pages 337-347

  Ogawa, Seishi ^a  

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 3A; TUMOR PROTEIN;

ACUTE MYELOBLASTIC LEUKEMIA; APLASTIC ANEMIA; AUTOIMMUNITY; BONE MARROW; CLONAL EVOLUTION; CLONAL HEMATOPOIESIS; CLONE; CYTOGENETICS; DISEASE COURSE; GENETIC DISORDER; HEMATOPOIESIS; HETEROZYGOSITY LOSS; HIGH THROUGHPUT SEQUENCING; HUMAN; IMMUNE SYSTEM; IMMUNOSUPPRESSIVE TREATMENT; MYELODYSPLASTIC SYNDROME; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PRIORITY JOURNAL; REVIEW; SOMATIC MUTATION; UNIPARENTAL DISOMY; X CHROMOSOME INACTIVATION; ACUTE MYELOID LEUKEMIA; GENETICS; METABOLISM; MUTATION;

ANEMIA, APLASTIC; HEMATOPOIESIS; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; LEUKEMIA, MYELOID, ACUTE; MUTATION; MYELODYSPLASTIC SYNDROMES; NEOPLASM PROTEINS;

EID: 84979231394     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2016-01-636381     Document Type: Review

References (90)

1. Risitano AM, Maciejewski JP, Green S, Plasilova M, Zeng W, Young NS. In-vivo dominant immune responses in aplastic anaemia: molecular tracking of putatively pathogenetic T-cell clones by TCR beta-CDR3 sequencing. Lancet. 2004;364(9431):355-364.
2. Zeng W, Maciejewski JP, Chen G, Young NS. Limited heterogeneity of T cell receptor BV usage in aplastic anemia. J Clin Invest. 2001;108(5):765-773.
3. Zeng W, Nakao S, Takamatsu H, et al. Characterization of T-cell repertoire of the bone marrow in immune-mediated aplastic anemia: evidence for the involvement of antigen-driven T-cell response in cyclosporine-dependent aplastic anemia. Blood. 1999;93(9):3008-3016.
4. Sloand E, Kim S, Maciejewski JP, Tisdale J, Follmann D, Young NS. Intracellular interferon-gamma in circulating and marrow T cells detected by flow cytometry and the response to immunosuppressive therapy in patients with aplastic anemia. Blood. 2002;100(4):1185-1191.
5. Young NS, Calado RT, Scheinberg P. Current concepts in the pathophysiology and treatment of aplastic anemia. Blood. 2006;108(8):2509-2519.
6. Marsh JC, Ball SE, Cavenagh J, et al; British Committee for Standards in Haematology. Guidelines for the diagnosis and management of aplastic anaemia. Br J Haematol. 2009;147(1):43-70.
7. Marsh JC, Geary CG. Is aplastic anaemia a pre-leukaemic disorder? Br J Haematol. 1991;77(4):447-452.
8. Socié G, Rosenfeld S, Frickhofen N, Gluckman E, Tichelli A. Late clonal diseases of treated aplastic anemia. Semin Hematol. 2000;37(1):91-101.
9. Young NS. The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated. Blood. 1992;79(6):1385-1392.
10. Abkowitz JL. Clone wars - the emergence of neoplastic blood-cell clones with aging. N Engl J Med. 2014;371(26):2523-2525.
11. Martincorena I, Campbell PJ. Somatic mutation in cancer and normal cells. Science. 2015;349(6255):1483-1489.
12. Dameshek W. Riddle: what do aplastic anemia, paroxysmal nocturnal hemoglobinuria (PNH) and "hypoplastic" leukemia have in common? Blood. 1967;30(2):251-254.
13. Lane AA, Odejide O, Kopp N, et al. Low frequency clonal mutations recoverable by deep sequencing in patients with aplastic anemia. Leukemia. 2013;27(4):968-971.
14. Heuser M, Schlarmann C, Dobbernack V, et al. Genetic characterization of acquired aplastic anemia by targeted sequencing. Haematologica. 2014;99(9):e165-e167.
15. Kulasekararaj AG, Jiang J, Smith AE, et al. Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome. Blood. 2014;124(17):2698-2704.
16. Babushok DV, Perdigones N, Perin JC, et al. Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia. Cancer Genet. 2015;208(4):115-128.
17. Huang J, Ge M, Lu S, et al. Mutations of ASXL1 and TET2 in aplastic anemia. Haematologica. 2015;100(5):e172-e175.
18. Yoshizato T, Dumitriu B, Hosokawa K, et al. Somatic mutations and clonal hematopoiesis in aplastic anemia. N Engl J Med. 2015;373(1):35-47.
19. Genovese G, Kähler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014;371(26):2477-2487.
20. Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488-2498.
21. Xie M, Lu C, Wang J, et al. Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med. 2014;20(12):1472-1478.
22. Shlush LI, Zandi S, Mitchell A, et al; HALT Pan-Leukemia Gene Panel Consortium. Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature. 2014;506(7488):328-333.
23. Damm F, Mylonas E, Cosson A, et al. Acquired initiating mutations in early hematopoietic cells of CLL patients. Cancer Discov. 2014;4(9):1088-1101.
24. Sakata-Yanagimoto M, Enami T, Yoshida K, et al. Somatic RHOA mutation in angioimmunoblastic T cell lymphoma. Nat Genet. 2014;46(2):171-175.
25. Chung SS, Kim E, Park JH, et al. Hematopoietic stem cell origin of BRAFV600E mutations in hairy cell leukemia. Sci Transl Med. 2014;6(238):238ra71.
26. Najean Y, Haguenauer O; The Cooperative Group for the Study of Aplastic and Refractory Anemias. Long-term (5 to 20 years) evolution of nongrafted aplastic anemias. Blood. 1990;76(11):2222-2228.
27. Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995;333(19):1253-1259.
28. de Latour RP, Mary JY, Salanoubat C, et al; French Society of Hematology; French Association of Young Hematologists. Paroxysmal nocturnal hemoglobinuria: natural history of disease subcategories. Blood. 2008;112(8):3099-3106.
29. Socié G, Mary JY, de Gramont A, et al; French Society of Haematology. Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. Lancet. 1996;348(9027):573-577.
30. de Planque MM, Bacigalupo A, Würsch A, et al; Severe Aplastic Anaemia Working Party of the European Cooperative Group for Bone Marrow Transplantation (EBMT). Long-term follow-up of severe aplastic anaemia patients treated with antithymocyte globulin. Br J Haematol. 1989;73(1):121-126.
31. Frickhofen N, Heimpel H, Kaltwasser JP, Schrezenmeier H; German Aplastic Anemia Study Group. Antithymocyte globulin with or without cyclosporin A: 11-year follow-up of a randomized trial comparing treatments of aplastic anemia. Blood. 2003;101(4):1236-1242.
32. Rosenfeld S, Follmann D, Nunez O, Young NS. Antithymocyte globulin and cyclosporine for severe aplastic anemia: association between hematologic response and long-term outcome. JAMA. 2003;289(9):1130-1135.
33. Tichelli A, Gratwohl A, Nissen C, Speck B. Late clonal complications in severe aplastic anemia. Leuk Lymphoma. 1994;12(3-4):167-175.
34. Tichelli A, Gratwohl A, Würsch A, Nissen C, Speck B. Late haematological complications in severe aplastic anaemia. Br J Haematol. 1988;69(3):413-418.
35. Tichelli A, Schrezenmeier H, Socié G, et al. A randomized controlled study in patients with newly diagnosed severe aplastic anemia receiving antithymocyte globulin (ATG), cyclosporine, with or without G-CSF: a study of the SAA Working Party of the European Group for Blood and Marrow Transplantation. Blood. 2011;117(17):4434-4441.
36. Brodsky RA, Mukhina GL, Li S, et al. Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin. Am J Clin Pathol. 2000;114(3):459-466.
37. Brodsky RA, Mukhina GL, Nelson KL, Lawrence TS, Jones RJ, Buckley JT. Resistance of paroxysmal nocturnal hemoglobinuria cells to the glycosylphosphatidylinositol-binding toxin aerolysin. Blood. 1999;93(5):1749-1756.
38. Li Y, Li X, Ge M, et al. Long-term follow-up of clonal evolutions in 802 aplastic anemia patients: a single-center experience. Ann Hematol. 2011;90(5):529-537.
39. Socié G, Henry-Amar M, Bacigalupo A, et al; European Bone Marrow Transplantation-Severe Aplastic Anaemia Working Party. Malignant tumors occurring after treatment of aplastic anemia. N Engl J Med. 1993;329(16):1152-1157.
40. Kojima S, Ohara A, Tsuchida M, et al; Japan Childhood Aplastic Anemia Study Group. Risk factors for evolution of acquired aplastic anemia into myelodysplastic syndrome and acute myeloid leukemia after immunosuppressive therapy in children. Blood. 2002;100(3):786-790.
41. Brunning R, Orazi A, Germing U, et al. Myelodysplastic Syndromes. Lyon, France: IARC Press; 2008.
42. Cazzola M, Della Porta MG, Malcovati L. The genetic basis of myelodysplasia and its clinical relevance. Blood. 2013;122(25):4021-4034.
43. Jacobs KB, Yeager M, Zhou W, et al. Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet. 2012;44(6):651-658.
44. Laurie CC, Laurie CA, Rice K, et al. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet. 2012;44(6):642-650.
45. Wimazal F, Fonatsch C, Thalhammer R, et al. Idiopathic cytopenia of undetermined significance (ICUS) versus low risk MDS: the diagnostic interface. Leuk Res. 2007;31(11):1461-1468.
46. Valent P, Bain BJ, Bennett JM, et al. Idiopathic cytopenia of undetermined significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), and their distinction from low risk MDS. Leuk Res. 2012;36(1):1-5.
47. Tichelli A, Gratwohl A, Nissen C, Signer E, Stebler Gysi C, Speck B. Morphology in patients with severe aplastic anemia treated with antilymphocyte globulin. Blood. 1992;80(2):337-345.
48. Bennett JM, Orazi A. Diagnostic criteria to distinguish hypocellular acute myeloid leukemia from hypocellular myelodysplastic syndromes and aplastic anemia: recommendations for a standardized approach. Haematologica. 2009;94(2):264-268.
49. Busque L, Gilliland DG. X-inactivation analysis in the 1990s: promise and potential problems. Leukemia. 1998;12(2):128-135.
50. van Kamp H, Landegent JE, Jansen RP, Willemze R, Fibbe WE. Clonal hematopoiesis in patients with acquired aplastic anemia. Blood. 1991;78(12):3209-3214.
51. Ohashi H. Clonality in refractory anemia [in Japanese]. Rinsho Ketsueki. 1993;34(3):265-268.
52. Mortazavi Y, Chopra R, Gordon-Smith EC, Rutherford TR. Clonal patterns of X-chromosome inactivation in female patients with aplastic anaemia studies using a novel reverse transcription polymerase chain reaction method. Eur J Haematol. 2000;64(6):385-395.
53. Fey MF, Liechti-Gallati S, von Rohr A, et al. Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe. Blood. 1994;83(4):931-938.
54. Busque L, Mio R, Mattioli J, et al. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood. 1996;88(1):59-65.
55. Appelbaum FR, Barrall J, Storb R, et al. Clonal cytogenetic abnormalities in patients with otherwise typical aplastic anemia. Exp Hematol. 1987;15(11):1134-1139.
56. Keung YK, Pettenati MJ, Cruz JM, Powell BL, Woodruff RD, Buss DH. Bone marrow cytogenetic abnormalities of aplastic anemia. Am J Hematol. 2001;66(3):167-171.
57. Maciejewski JP, Risitano A, Sloand EM, Nunez O, Young NS. Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia. Blood. 2002;99(9):3129-3135.
58. Mikhailova N, Sessarego M, Fugazza G, et al. Cytogenetic abnormalities in patients with severe aplastic anemia. Haematologica. 1996;81(5):418-422.
59. Holbro A, Jotterand M, Passweg JR, Buser A, Tichelli A, Rovó A. Comment to "Favorable outcome of patients who have 13q deletion: a suggestion for revision of the WHO 'MDS-U' designation" Haematologica. 2012;97(12):1845-9. Haematologica. 2013;98(4):e46-e47.
60. Hosokawa K, Katagiri T, Sugimori N, et al. Favorable outcome of patients who have 13q deletion: a suggestion for revision of the WHO 'MDS-U' designation. Haematologica. 2012;97(12):1845-1849.
61. Saitoh T, Saiki M, Kumagai T, Kura Y, Sawada U, Horie T. Spontaneous clinical and cytogenetic remission of aplastic anemia in a patient with del(13q). Cancer Genet Cytogenet. 2002;136(2):126-128.
62. Afable MG II, Wlodarski M, Makishima H, et al. SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes. Blood. 2011;117(25):6876-6884.
63. Katagiri T, Sato-Otsubo A, Kashiwase K, et al; Japan Marrow Donor Program. Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia. Blood. 2011;118(25):6601-6609.
64. Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA Jr, Kinzler KW. Cancer genome landscapes. Science. 2013;339(6127):1546-1558.
65. Alexandrov LB, Nik-Zainal S, Wedge DC, et al; Australian Pancreatic Cancer Genome Initiative; ICGC Breast Cancer Consortium; ICGC MMML-Seq Consortium; ICGC PedBrain. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415-421.
66. Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28(2):241-247.
67. James C, Ugo V, Le Couédic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434(7037):1144-1148.
68. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-1790.
69. Sanada M, Suzuki T, Shih LY, et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature. 2009;460(7257):904-908.
70. Chase A, Leung W, Tapper W, et al. Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus. Leukemia. 2015;29(10):2069-2074.
71. Busque L, Patel JP, Figueroa ME, et al. Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. Nat Genet. 2012;44(11):1179-1181.
72. Welch JS, Ley TJ, Link DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell. 2012;150(2):264-278.
73. Steensma DP, Bejar R, Jaiswal S, et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood. 2015;126(1):9-16.
74. Shichishima T, Noji H, Ikeda K, Akutsu K, Maruyama Y. The frequency of HLA class I alleles in Japanese patients with bone marrow failure. Haematologica. 2006;91(6):856-857.
75. Villalobos IB, Takahashi Y, Akatsuka Y, et al. Relapse of leukemia with loss of mismatched HLA resulting from uniparental disomy after haploidentical hematopoietic stem cell transplantation. Blood. 2010;115(15):3158-3161.
76. Vago L, Perna SK, Zanussi M, et al. Loss of mismatched HLA in leukemia after stem-cell transplantation. N Engl J Med. 2009;361(5):478-488.
77. Mortazavi Y, Merk B, McIntosh J, Marsh JC, Schrezenmeier H, Rutherford TR; BIOMED II Pathophysiology and Treatment of Aplastic Anaemia Study Group. The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot. Blood. 2003;101(7):2833-2841.
78. Shen W, Clemente MJ, Hosono N, et al. Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria. J Clin Invest. 2014;124(10):4529-4538.
79. Rotoli B, Luzzatto L. Paroxysmal nocturnal haemoglobinuria. Baillieres Clin Haematol. 1989;2(1):113-138.
80. Luzzatto L, Bessler M, Rotoli B. Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise? Cell. 1997;88(1):1-4.
81. Inoue N, Izui-Sarumaru T, Murakami Y, et al. Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH). Blood. 2006;108(13):4232-4236.
82. Mortazavi Y, Tooze JA, Gordon-Smith EC, Rutherford TR. N-RAS gene mutation in patients with aplastic anemia and aplastic anemia/paroxysmal nocturnal hemoglobinuria during evolution to clonal disease. Blood. 2000;95(2):646-650.
83. Sugimori C, Padron E, Caceres G, et al. Paroxysmal nocturnal hemoglobinuria and concurrent JAK2(V617F) mutation. Blood Cancer J. 2012;2(3):e63.
84. Tominaga R, Katagiri T, Kataoka K, et al. Paroxysmal nocturnal hemoglobinuria induced by the occurrence of BCR-ABL in a PIGA mutant hematopoietic progenitor cell. Leukemia. 2016;30(5):1208-1210.
85. Bamshad M, Wooding SP. Signatures of natural selection in the human genome. Nat Rev Genet. 2003;4(2):99-111.
86. Pu JJ, Mukhina G, Wang H, Savage WJ, Brodsky RA. Natural history of paroxysmal nocturnal hemoglobinuria clones in patients presenting as aplastic anemia. Eur J Haematol. 2011;87(1):37-45.
87. Sugimori C, Mochizuki K, Qi Z, et al. Origin and fate of blood cells deficient in glycosylphosphatidylinositol-anchored protein among patients with bone marrow failure. Br J Haematol. 2009;147(1):102-112.
88. Young NS, Ogawa S. Somatic mutations and clonal hematopoiesis in aplastic anemia. N Engl J Med. 2015;373(17):1675-1676.
89. Kwok B, Hall JM, Witte JS, et al. MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance. Blood. 2015;126(21):2355-2361.
90. Cargo CA, Rowbotham N, Evans PA, et al. Targeted sequencing identifies patients with preclinical MDS at high risk of disease progression. Blood. 2015;126(21):2362-2365.