再生障碍性贫血

Brodsky RA, Jones RJ. Aplastic anaemia. Lancet. 2005;365:1647-1656.

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Young NS. Acquired aplastic anemia. Ann Intern Med. 2002;136:534-546.

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Killick SB, Bown N, Cavenagh J, et al; British Society for Standards in Haematology. Guidelines for the diagnosis and management of adult aplastic anaemia. Br J Haematol. 2016;172:187-207.

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Bacigalupo A, Hows J, Gluckman E, et al. Bone marrow transplantation (BMT) versus immunosuppression for the treatment of severe aplastic anaemia (SAA): a report of the EBMT SAA working party. Br J Haematol. 1988;70:177-182.

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1.  International Agranulocytosis and Aplastic Anemia Study Group. Incidence of aplastic anemia: the relevance of diagnostic criteria. Blood. 1987;70:1718-1721.

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2.  Young NS, Calado RT, Scheinberg P. Current concepts in the pathophysiology and treatment of aplastic anemia. Blood. 2006;108:2509-2519.

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3.  Tischkowitz MD, Hodgson SV. Fanconi anaemia. J Med Genet. 2003;40:1-10.

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4.  Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood. 2014;124:2775-2783.

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5.  Ruggero D, Shimamura A. Marrow failure: a window into ribosome biology. Blood. 2014;124:2784-2792.

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6.  Brodsky RA, Jones RJ. Aplastic anaemia. Lancet. 2005;365:1647-1656.

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7.  Young NS. Acquired aplastic anemia. Ann Intern Med. 2002;136:534-546.

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8.  Kawaguchi T, Nakakuma H. New insights into molecular pathogenesis of bone marrow failure in paroxysmal nocturnal hemoglobinuria. Int J Hematol. 2007;86:27-32.

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9.  Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123:809-821.

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10.  Dickinson RE, Milne P, Jardine L, et al. The evolution of cellular deficiency in GATA2 mutation. Blood. 2014;123:863-874.

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11.  Shimamura A. Inherited bone marrow failure syndromes: molecular features. Hematology Am Soc Hematol Educ Program. 2006:63-71.

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12.  Calado RT, Young NS. Telomere diseases. N Engl J Med. 2009;361:2353-2365.

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13.  Choudhry VP, Gupta S, Gupta M, et al. Pregnancy associated aplastic anemia - a series of 10 cases with review of literature. Hematology. 2002;7:233-238.

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14.  Antic M, Lautenschlager S, Itin PH. Eosinophilic fasciitis 30 years after - what do we really know? Report of 11 patients and review of the literature. Dermatology. 2006;213:93-101.

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15.  Barrett J, Saunthararajah Y, Molldrem J. Myelodysplastic syndrome and aplastic anemia: distinct entities or diseases linked by a common pathophysiology? Semin Hematol. 2000;37:15-29.

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16.  Kulagin A, Lisukov I, Ivanova M, et al. Prognostic value of paroxysmal nocturnal haemoglobinuria clone presence in aplastic anaemia patients treated with combined immunosuppression: results of two-centre prospective study. Br J Haematol. 2014;164:546-554.

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17.  Killick SB, Bown N, Cavenagh J, et al; British Society for Standards in Haematology. Guidelines for the diagnosis and management of adult aplastic anaemia. Br J Haematol. 2016;172:187-207.

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18.  Camitta BM, Thomas ED, Nathan DG, et al. Severe aplastic anemia: a prospective study of the effect of early marrow transplantation on acute mortality. Blood. 1976;48:63-70.

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19.  Bacigalupo A, Hows J, Gluckman E, et al. Bone marrow transplantation (BMT) versus immunosuppression for the treatment of severe aplastic anaemia (SAA): a report of the EBMT SAA working party. Br J Haematol. 1988;70:177-182.

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20.  Marsh J, Schrezenmeier H, Marin P, et al. Prospective randomized multicenter study comparing cyclosporin alone versus the combination of antithymocyte globulin and cyclosporin for treatment of patients with nonsevere aplastic anemia: a report from the European Blood and Marrow Transplant (EBMT) Severe Aplastic Anaemia Working Party. Blood. 1999;93:2191-2195.

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21.  Frickhofen N, Rosenfeld SJ. Immunosuppressive treatment of aplastic anemia with antithymocyte globulin and cyclosporine. Semin Hematol. 2000;37:56-68.

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22.  Camitta BM. A controlled prospective trial of antithoracic duct lymphocyte globulin (ATDLG) for treatment of severe aplastic anemia. Prog Clin Biol Res. 1984;148:239-247.

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23.  Champlin R, Ho W, Gale RP. Antithymocyte globulin treatment in patients with aplastic anemia: a prospective randomized trial. N Engl J Med. 1983;308:113-118.

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24.  Frickhofen N, Kaltwasser JP, Schrezenmeier H, et al. Treatment of aplastic anemia with antilymphocyte globulin and methylprednisolone with or without cyclosporine. The German Aplastic Anemia Study Group. N Engl J Med. 1991;324:1297-1304.

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25.  Rosenfeld S, Follmann D, Nuñez O, et al. Antithymocyte globulin and cyclosporine for severe aplastic anemia: association between hematologic response and long-term outcome. JAMA. 2003;289:1130-1135.

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26.  Frickhofen N, Heimpel H, Kaltwasser JP, et al; 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;101:1236-1242.

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27.  Eapen M. Allogeneic transplantation for aplastic anemia. Hematology. 2012;17(suppl 1):15-17.

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28.  Bacigalupo A, Locatelli F, Lanino E, et al. Fludarabine, cyclophosphamide and anti-thymocyte globulin for alternative donor transplants in acquired severe aplastic anemia: a report from the EBMT-SAA Working Party. Bone Marrow Transplant. 2005;36:947-950.

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29.  Deeg HJ, O'Donnell M, Tolar J, et al. Optimization of conditioning for marrow transplantation from unrelated donors for patients with aplastic anemia after failure of immunosuppressive therapy. Blood. 2006;108:1485-1491.

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30.  Armand P, Antin JH. Allogeneic stem cell transplantation for aplastic anemia. Biol Blood Marrow Transplant. 2007;13:505-516.

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31.  Marsh JC, Gupta V, Lim Z, et al. Alemtuzumab with fludarabine and cyclophosphamide reduces chronic graft versus host disease after allogeneic stem cell transplantation for acquired aplastic anemia. Blood. 2011;118:2351-2357.

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32.  Bacigalupo A, Socie G, Lanino E, et al; Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation. Fludarabine, cyclophosphamide, antithymocyte globulin, with or without low dose total body irradiation, for alternative donor transplants, in acquired severe aplastic anemia: a retrospective study from the EBMT-SAA working party. Haematologica. 2010;95:976-982.

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33.  Scheinberg P, Nunez O, Weinstein B, et al. Horse versus rabbit antithymocyte globulin in acquired aplastic anemia. N Engl J Med. 2011;365:430-438.

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34.  Marsh J, Socie G, Tichelli A, et al, on behalf of the EBMT Severe Aplastic Anaemia (SAA) Working Party. Prospective phase II pilot study of rabbit antithymocyte globulin with ciclosporin for patients with acquired aplastic anaemia and matched pair analysis with patients treated with horse ATG and ciclosporin. EBMT 2011 physicians' abstracts: no.208. Bone Marrow Transplant. 2011;46(Suppl 1):S30.

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35.  Afable MG 2nd, Shaik M, Sugimoto Y, et al. Efficacy of rabbit antithymocyte globulin in severe aplastic anemia. Haematologica. 2011;96:1269-1275.

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36.  European Blood and Marrow Transplant Group, Severe Aplastic Anaemia Working Party. Rabbit ATG for aplastic anaemia treatment: a backward step? Lancet. 2011;378:1831-1833.

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37.  Scheinberg P, Nunez O, Weinstein B, et al. Activity of alemtuzumab monotherapy in treatment-naive, relapsed, and refractory severe acquired aplastic anemia. Blood. 2012;119:345-354.

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38.  Olnes MJ, Scheinberg P, Calvo KR, et al. Eltrombopag and improved hematopoiesis in refractory aplastic anemia. N Engl J Med. 2012;367:11-19.

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39.  Desmond R, Townsley DM, Dumitriu B, et al. Eltrombopag restores tri-lineage hematopoiesis in refractory severe aplastic anemia which can be sustained on discontinuation of drug. Blood. 2014;123:1818-1825.

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40.  Bacigalupo A, Chaple M, Hows J, et al. Treatment of aplastic anaemia (AA) with antilymphocyte globulin (ALG) and methylprednisolone (MPred) with or without androgens: a randomized trial from the EBMT SAA working party. Br J Haematol. 1993;83:145-151.

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41.  Leleu X, Terriou L, Duhamel A, et al. Long-term outcome in acquired aplastic anemia treated with an intensified dose schedule of horse antilymphocyte globulin in combination with androgens. Ann Hematol. 2006;85:711-716.

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42.  Calado RT, Young NS. Telomere maintenance and human bone marrow failure. Blood. 2008;111:4446-4455.

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43.  Calado RT, Yewdell WT, Wilkerson KL, et al. Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells. Blood. 2009;114:2236-2243.

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44.  Dokal IS. Inherited aplastic anaemia/bone marrow failure syndromes. In: Hoffbrand AV, Catovsky D, Tuddenham EG, et al, eds. Postgraduate haematology. 6th ed. Oxford, UK: Wiley-Blackwell; 2010.

45.  Risitano AM, Selleri C, Serio B, et al; Working Party Severe Aplastic Anaemia (WPSAA) of the European Group for Blood and Marrow Transplantation (EBMT). Alemtuzumab is safe and effective as immunosuppressive treatment for aplastic anaemia and single-lineage marrow failure: a pilot study and a survey from the EBMT WPSAA. Br J Haematol. 2010;148:791-796.

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46.  Brodsky RA, Sensenbrenner LL, Smith BD, et al. Durable treatment-free remission after high-dose cyclophosphamide therapy for previously untreated severe aplastic anemia. Ann Intern Med. 2001;135:477-483.

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47.  Brodsky RA, Sensenbrenner LL, Jones RJ. Complete remission in severe aplastic anemia after high-dose cyclophosphamide without bone marrow transplantation. Blood. 1996;87:491-494.

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48.  Brodsky RA, Chen AR, Dorr D, et al. High-dose cyclophosphamide for severe aplastic anemia: long-term follow-up. Blood. 2010;115:2136-2141.

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49.  Tisdale JF, Dunn DE, Geller N, et al. High-dose cyclophosphamide in severe aplastic anaemia: a randomised trial. Lancet. 2000;356:1554-1559.

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50.  Tisdale JF, Maciejewski JP, Nuñez O, et al. Late complications following treatment for severe aplastic anemia (SAA) with high-dose cyclophosphamide (Cy): follow-up of a randomized trial. Blood. 2002;100:4668-4670.

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51.  Brodsky RA, Chen AR, Brodsky I, et al. High-dose cyclophosphamide as salvage therapy for severe aplastic anemia. Exp Hematol. 2004;32:435-440.

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52.  Scheinberg P, Townsley DM, Dimitriu B, et al. Even "moderate" dose cyclophosphamide for severe aplastic anemia is associated with significant toxicities and does not prevent relapse and clonal evolution. Blood (ASH Annual Meeting Abstracts). 2012;120:1259.

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53.  Bacigalupo A, Bruno B, Saracco P, et al; European Group for Blood and Marrow Transplantation (EBMT) Working Party on Severe Aplastic Anemia and the Gruppo Italiano Trapianti di Midolio Osseo (GITMO). Antilymphocyte globulin, cyclosporine, prednisolone, and granulocyte colony-stimulating factor for severe aplastic anemia: an update of the GITMO/EBMT study on 100 patients. Blood. 2000;95:1931-1934.

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54.  Teramura M, Kimura A, Iwase S, et al. Treatment of severe aplastic anemia with antithymocyte globulin and cyclosporin A with or without G-CSF in adults; a multicenter randomized study in Japan. Blood. 2007;110:1756-1761.

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55.  Gluckman E, Rokicka-Milewska R, Hann I, et al; European Group for Blood and Marrow Transplantation Working Party for Severe Aplastic Anemia. Results and follow-up of a phase III randomized study of recombinant human-granulocyte stimulating factor as support for immunosuppressive therapy in patients with severe aplastic anaemia. Br J Haematol. 2002;119:1075-1082.

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56.  Socie G, Mary JY, Schrezenmeier H, et al. Granulocyte-stimulating factor and severe aplastic anemia: a survey by the European Group for Blood and Marrow Transplantation (EBMT). Blood. 2007;109:2794-2796.

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57.  Mao P, Zhu Z, Wang H, et al. Sustained and stable hematopoietic donor-recipient mixed chimerism after unrelated cord blood transplantation for adult patients with severe aplastic anemia. Eur J Haematol. 2005;75:430-435.

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58.  Ohga S, Ichino K, Goto K, et al. Unrelated donor cord blood transplantation for childhood severe aplastic anemia after a modified conditioning. Pediatr Transplant. 2006;10:497-500.

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59.  Motwani J, Lawson SE, Darbyshire PJ. Successful HSCT using nonradiotherapy-based conditioning regimens and alternative donors in patients with Fanconi anaemia - experience in a single UK centre. Bone Marrow Transplant. 2005;36:405-410.

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60.  Vibhakar R, Radhi M, Rumelhart S, et al. Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome. Bone Marrow Transplant. 2005;36:855-861.

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61.  Brodsky RA, Luznik L, Bolaños-Meade J, et al. Reduced intensity HLA-haploidentical BMT with post transplantation cyclophosphamide in nonmalignant hematologic diseases. Bone Marrow Transplant. 2008;42:523-527.

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62.  Clay J, Kulasekararaj AG, Potter V, et al. Nonmyeloablative peripheral blood haploidentical stem cell transplantation for refractory severe aplastic anemia. Biol Blood Marrow Transplant. 2014;20:1711-1716.

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63.  Valdez JM, Scheinberg P, Nunez O, et al. Decreased infection-related mortality and improved survival in severe aplastic anemia in the past two decades. Clin Infect Dis. 2011;52:726-735.

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64.  Socié G, Rosenfeld S, Frickhofen N, et al. Late clonal diseases of treated aplastic anemia. Semin Hematol. 2000;37:91-101.

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65.  Kulasekararaj AG, Jiang J, Smith AE, et al. Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome. Blood. 2014;124:2698-2704.

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66.  Socié G, Henry-Amar M, Bacigalupo A, et al. Malignant tumors occurring after treatment of aplastic anemia. European Bone Marrow Transplantation-Severe Aplastic Anaemia Working Party. N Engl J Med. 1993;329:1152-1157.

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67.  Kiem HP, McDonald GB, Myerson D, et al. Marrow transplantation for hepatitis-associated aplastic anemia: a follow-up of long-term survivors. Biol Blood Marrow Transplant. 1996;2:93-99.

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68.  Anasetti C, Doney KC, Storb R, et al. Marrow transplantation for severe aplastic anemia. Long-term outcome in fifty "untransfused" patients. Ann Intern Med. 1986;104:461-466.

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69.  Sanders JE, Woolfrey AE, Carpenter PA, et al. Late effects among pediatric patients followed for nearly 4 decades after transplantation for severe aplastic anemia. Blood. 2011;118:1421-1428.

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70.  Eapen M, Ramsay NK, Mertens AC, et al. Late outcomes after bone marrow transplant for aplastic anaemia. Br J Haematol. 2000;111:754-760.

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71.  Deeg HJ, Socié G, Schoch G, et al. Malignancies after marrow transplantation for aplastic anemia and fanconi anemia: a joint Seattle and Paris analysis of results in 700 patients. Blood. 1996;87:386-392.

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72.  Marsh JC, Zomas A, Hows JM, et al. Avascular necrosis after treatment of aplastic anaemia with antilymphocyte globulin and high-dose methylprednisolone. Br J Haematol. 1993;84:731-735.

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