Hematopoietic Cell Transplantation for Fanconi's Anemia

Thomas' Hematopoietic Cell Transplantation: Stem Cell Transplantation, Fourth Edition

Volumn , Issue , 2009, Pages 1178-1199

  Wagner, John E ^a   MacMillan, Margaret L ^a   Auerbach, Arleen D ^b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

Author keywords

Complementation groups and gene cloning; Congenital malformations in Fanconi's anemia; Fanconi's anemia (FA) genetically and phenotypically heterogeneous autosomal and X linked recessive disorder; HCT from alternative donors in treatment of FA; Hematopoietic cell transplantation for Fanconi's Anemia; Marrow failure and leukemogenesis; Nonirradation based conditioning regimens prior to alternative donor HCT; Nontransplant treatment strategies; Vitamins and antioxidants

Indexed keywords

EID: 84890740089     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444303537.ch79     Document Type: Chapter

References (183)

1. Fanconi G. Familiäre infantile perniziosaartige Anämie (perniziöses Blutbild und Konstitution). Jahrb Kinderh 1927; 117: 257-80.
2. Fanconi G. Familial constitutional panmyelocytopathy, Fanconi's anemia (FA). I. Clinical aspects. Semin Hematol 1967; 4: 233-40.
3. Glanz A, Fraser FC. Spectrum of anomalies in Fanconi anaemia. J Med Genet 1982; 19: 412-16.
4. Estren S, Dameshek W. Familial hypoplastic anemia of childhood. Report of eight cases in two families with beneficial effect of splenectomy in one case. Am J Dis Child 1947; 73: 671-87.
5. Macdougall LG, Greeff MC, Rosendorff J, Bernstein R. Fanconi anemia in black African children. Am J Med Genet 1990; 36: 408-13.
6. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 1993; 91: 1116-20.
7. Giampietro PF, Verlander PC, Davis JG, Auerbach AD. Diagnosis of Fanconi anemia in patients without congenital malformations: an International Fanconi Anemia Registry study. Am J Med Genet 1997; 68: 58-61.
8. Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin SH, eds. Hematology of Infancy and Childhood, 4th edn. Philadelphia: WB Saunders, 1998: pp. 237-335.
9. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi's anemia. Blood 2003; 101: 822-6.
10. Kutler DI, Singh B, Satagopan J et al. A. 20-year perspective of the International Fanconi Anemia Registry (IFAR). Blood 2003; 101: 1249-56.
11. Kutler DI, Auerbach AD, Satagopan J et al. High incidence of head and neck squamous cell carcinoma (HNSCC) in patients with Fanconi anemia (FA). Arch Otolaryngol 2003; 129: 106-12.
12. Auerbach AD, Joenje H, Buchwald M. Fanconi anemia. In: Vogelstein B, Kinzler KW, eds. The Genetic Basis of Human Cancer, 2nd edn. New York, McGraw-Hill, 2002: pp. 289-306.
13. Wajnrajch MP, Gertner JM, Huma Z et al. Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pediatrics 2001; 107: 744-54.
14. Alter BP, Frissora CL, Halperin DS et al. Fanconi's anaemia and pregnancy. Br J Haematol 1991; 77: 410-18.
15. Liu JM, Auerbach AD, Young NS. Fanconi anemia presenting unexpectedly in an adult kindred with no dysmorphic features. Am J Med 1991; 91: 555-7.
16. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio A, Auerbach AD. Hematologic abnormalities in Fanconi anemia. An International Fanconi Anemia Registry study. Blood 1994; 84: 1650-5.
17. Neitzel H, Kühl J, Gerlach A, Ebell W, Tönnies H. Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: Results and implications. Monogr Hum Genet 2007; 15: 79-94.
18. Schroeder TM, Anschultz F, Knoff A. Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik 1964; 1: 194-6.
19. Auerbach AD, Rogatko A, Shroeder-Kurth TM. International Fanconi Anemia Registry. Relation of clinical symptoms to diepoxybutane sensitivity. Blood 1989; 73: 391-6.
20. Auerbach AD. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 1993; 21: 731-3.
21. Lo Ten Foe JR, Kwee ML, Rooimans MA et al. Somatic mosaicism in Fanconi anaemia: molecular basis and clinical significance. Eur J Hum Genet 1997; 5: 137-48.
22. Gillio AP, Verlander PC, Batish SD, Giampietro PF, Auerbach AD. Phenotypic consequences of mutations in the Fanconi-anemia FAC gene: an International Fanconi Anemia Registry study. Blood 1997; 90: 105-10.
23. Davies SM, Radloff GA, DeFor TE et al. GST genotype may modify clinical phenotype in patients with Fanconi anemia. Br J Hematol. 2005; 131: 118-22.
24. Berger R, Le Coniat M, Gendron MC. Fanconi anemia. Chromosome breakage and cell cycle studies. Cancer Genet Cytogenet 1993; 69: 13-16.
25. Seyschab H, Friedl R, Sun Y et al. Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia. Blood 1995; 85: 2233-7.
26. Cassinat B, Guardiola P, Chevret S et al. Constitutive elevation of serum a-fetoprotein in Fanconi anemia. Blood 2000; 96: 859-63.
27. Strathdee CA, Duncan AM, Buchwald M. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet 1992; 1: 196-8.
28. Joenje H, Oostra AB, Wijker M et al. Evidence of at least eight Fanconi anemia genes. Am J Hum Genet 1997; 61: 940-4.
29. Joenje H, Levitus M, Waisfisz Q et al. Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. Am J Hum Genet 2000; 67: 759-62.
30. Timmers C, Taniguchi T, Hejna J et al. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell 2001; 7: 241-8.
31. Smogorzewska A, Matsuoka S, Vinciguerra P et al. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell 2007; 129: 289-301.
32. Sims AE, Spiteri E, Sims RJ III et al. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. Nat Struct Mol Biol 2007; 14: 564-7.
33. Levran O, Attwooll C, Henry RT et al. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 2005; 37: 931-3.
34. Levitus M., Waisfisz Q, Godthelp BC et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 2005; 37: 934-5.
35. Meetei AR, de Winter JP, Medhurst AL et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet 2003; 35: 165-70.
36. Meetei AR, Medhurst AL, Ling C et al. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet 2005; 37: 958-63.
37. Reid S, Schindler D, Hanenberg H et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007; 39: 162-4.
38. Xia B, Dorsman JC, Ameziane N et al. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 2007; 39: 159-61.
39. Wang W. Emergence of a DNA-damage response network consisting of Fanconi anemia and BRCA proteins. Nat Rev Genet 2007 8: 735-48.
40. Strathdee CA, Gavish H, Shannon WR, Buchwald M. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 1992; 358: 763-7.
41. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet 1996; 14: 320-3.
42. The Fanconi Anaemia/Breast Cancer Consortium. Positional cloning of the Fanconi anaemia group A gene. The Fanconi Anaemia/Breast Cancer Consortium. Nat Genet 1996; 14: 324-8.
43. Meetei AR, Levitus M, Xue Y et al. X-linked inheritance of Fanconi anemia complementation group B. Nat Genet 2004; 36(11): 1219-24.
44. De Winter JP, Waisfisz Q, Rooimans MA et al. The Fanconi anemia group G gene is identical with human XRCC9. Nat Genet 1998; 20: 281-3.
45. De Winter JP, Rooimans MA, van Der Weel L et al. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet 2000; 24: 15-16.
46. De Winter JP, Léveillé F, van Berkel CGM et al. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am J Hum Genet 2000; 67: 1306-8.
47. Howlett N, Toshiyasu T, Olson S et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002; 297: 606-9.
48. Godthelp BC, Artwert F, Joenje H, Zdzienicka MZ. Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1. Oncogene 2002; 21: 5002-5.
49. 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.
50. Verlander PC, Kaporis AG, Liu Q, Zhang Q, Seligsohn U, Auerbach AD. Carrier frequency of the > T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 1995; 86: 4034-8.
51. Verlander PC, Lin JD, Udono MU et al. Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 1994; 54: 595-601.
52. Gibson RA, Morgan NV, Goldstein LH et al. Novel mutations and polymorphisms in the Fanconi anaemia group C gene. Hum Mutat 1996; 8: 140-8.
53. Ianzano L, D'Apolito M, Centra M et al. The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics 1997; 41: 309-14.
54. Levran O, Erlich T, Magdalena N et al. Sequence variation in the Fanconi anemia gene, FAA. Proc Natl Acad Sci USA 1997; 94: 13051-6.
55. Savino M, Ianzano L, Strippoli P et al. Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. Am J Hum Genet 1997; 61: 1246-53.
56. Levran O, Doggett NA, Auerbach AD. Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. Hum Mutat 1998; 12: 145-52.
57. Tachibana A, Kato T, Ejima Y et al. The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. Hum Mutat 1999; 13: 237-44.
58. Morgan NV, Tipping AJ, Joenje H, Mathew CG. High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet 1999; 65: 1330-41.
59. Tamary H, Bar-Yam R, Shalmon L et al. Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. Br J Haematol 2000; 111: 338-43.
60. Tipping AJ, Pearson T, Morgan NV et al. Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci USA 2001; 98: 5734-9.
61. Yamada T, Tachibana A, Shimizu T, Mugishima H, Okubo M, Sasaki MS. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. J Hum Genet 2000; 45: 159-66.
62. Demuth I, Wlodarski M, Tipping AJ et al. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet 2000; 8: 861-8.
63. Auerbach AD, Greenbaum J, Pujara K et al. The spectrum of mutations in the Fanconi anemia gene FANCG. An International Fanconi Anemia Registry (IFAR) study. Hum Mutat 2003; 21: 158-68.
64. Taniguchi T, Garcia-Higuera I, Xu B et al. Convergence of the Fanconi anemia and ataxia telangiectasia signaling. Cell 2002; 109: 459-472.
65. Andreassen PR., D'Andrea AD, Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev 2004; 18: 1958-63.
66. Grompe M, van de Vrugt H. The Fanconi family adds a fraternal twin. Dev Cell 2007; 12: 661-2.
67. Machida YJ, Machida Y, Chen Y et al. UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation. Mol Cell 2006; 23: 589-96.
68. Nijman SMB, Huang TT, Dirac AMG et al. The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway. Mol Cell 2005; 17: 331-9.
69. Shimamura A, Montes de Oca R, Svenson JL et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 2002; 100: 4649-54.
70. Youssoufian H. Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc Natl Acad Sci USA 1994; 91: 7975-9.
71. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD. The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc Natl Acad Sci USA 1994; 91: 6712-16.
72. Youssoufian H, Auerbach AD, Verlander PC, Steimle V, Mach B. Indentification of cytosolic proteins that bind to the Fanconi anemia polypeptide FACC in vitro. Evidence of a multimeric complex. J Biol Chem 1995; 270: 9876-82.
73. Hoatlin ME, Christianson TA, Keeble WW et al. The Fanconi anemia group C gene product is located in both the nucleus and cytoplasm of human cells. Blood 1998; 91: 1418-25.
74. Kupfer GM, Yamashita T, Naf D, Suliman A, Asano S, D'Andrea AD. The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. Blood 1997; 90: 1047-54.
75. Kruyt FAE, Dijkmans LM, Arwert F, Joenje H. Involvement of the Fanconi's anemia protein FAC in a pathway that signals to the cyclin B/cdc2 kinase. Cancer Res 1997; 57: 2244-51.
76. Hoshino T, Wang J, Devetten MP et al. Molecular chaperone GRP94 binds to the Fanconi anemia group C protein and regulates its intracellular expression. Blood 1998; 91: 4379-86.
77. Kruyt FA, Hoshino T, Liu JM, Joseph P, Jaiswal AK, Youssofian H. Abnormal microsomal detoxification implicated in Fanconi anemia group C by interaction of the FAC protein with NADPH cytochrome P-450 reductase. Blood 1998; 92: 3050-6.
78. Pang Q, Fagerlie S, Christianson TA et al. The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by γ interferon and hematopoietic growth factors. Mol Cell Biol 2000; 20: 4724-35.
79. Pang Q, Christianson TA, Keeble W et al. The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. Blood 2001; 98: 1392-401.
80. Cumming RC, Lightfoot J, Beard K, Youssoufian H, O'Brien PJ, Buchwald M. Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat Med 2001; 7: 814-20.
81. Pang Q, Keeble W, Christianson TA, Faulkner GR, Bagby GC. FANCC interacts with Hsp70 to protect hematopoietic cells from IFN-γ/TNF-α-mediated cytotoxicity. EMBO J 2001; 20: 4478-89.
82. Pang Q, Christianson TA, Keeble K, Koretsky T, Bagby GC. The anti-apoptotic function of Hsp70 in the PKR-mediated death signaling pathway requires the Fanconi anemia protein, FANCC. J Biol Chem 2002; 277: 49638-43.
83. Rathburn RK, Christianson TA, Faulkner GR et al. Interferon-g-induced apoptotic responses of Fanconi anemia group C hematopoietic progenitor cells involve caspase 8-dependent activation of caspase 3 family member. Blood 2000; 96: 4204-11.
84. Zhang X, Li J, Sejas DP, Rathburn KR, Bagby GC, Pang Q. The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). J Biol Chem 2004; 279: 43910-19.
85. Oda T, Hayano T, Miyaso H, Takahashi N, Yamashita T. Hsp90 regulates the Fanconi anemia DNA damage response pathway. Blood 2007; 109: 5016-26.
86. Folias A, Matkovic M, Bruun D et al. BRCA1 interacts directly with the Fanconi anemia protein FANCA. Hum Mol Genet 2002; 11: 2591-7.
87. Otsuki T, Furukawa Y, Ikeda K et al. Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex. Hum Mol Genet 2001; 10: 2651-60.
88. Pulsipher M, Kupfer GM, Naf D et al. Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer. Mol Med 1998; 4: 468-79.
89. Hanenberg H, Batish SD, Pollok KE et al. Phenotypic correction of primary T cells from patients with Fanconi anemia with retroviral vectors as a diagnostic tool. Exp Hematol 2002; 30: 410-20.
90. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001; 17: 439-74.
91. Rischewski J, Schneppenheim R. Screening strategies for a highly polymorphic gene. DHPLC analysis of the Fanconi anemia group A gene. J Biochem Biophys Methods 2001; 47: 53-64.
92. Auerbach AD, Levran O, Pujara K et al. Genetic classification of African-American Fanconi anemia patients in the International Fanconi Anemia Registry (IFAR). Blood 2001; 98: 216a-17a.
93. Yamashita T, Wu N, Kupfer G et al. Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 1996; 87: 4424-32.
94. Wagner JE, Tolar J, Levran O et al. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia and Fanconi anemia. Blood 2004; 103: 3226-9.
95. Offit K, Levran O, Mullaney B et al. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia in an extended family. J Natl Can Instit 2003, 95: 1548-51.
96. Hirsch B, Shimamura A, Moreau L et al. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood 2004; 103: 2554-9.
97. Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H. The Breast Cancer Susceptibility Collaboration (UK, K Pritchard-Jones, M R Stratton, A Ridolfi-Luthy, et al. Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet 2005; 42: 147-151.
98. Alter BP, Rosenberg PS, Brody LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 2007; 44: 1-9.
99. Rahman, N, Seal S, Thompson D et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007; 39: 165-7.
100. Walsh T, King M-C. Ten genes for inherited breast cancer. Cancer Cell 2007; 11: 103-5.
101. Berwick M, Sagatopan J, Ben-Porat L et al. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 2007; 67: 9591-6.
102. Stephan V, Wahn V, Le Deist F et al. X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med 1996; 335: 1563-7.
103. Hirschhorn R, Yang DR, Israni A, Huie ML, Ownby DR. Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am J Hum Genet 1994; 55: 59-68.
104. Jonkman MF, Scheffer H, Stulp R et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997; 88: 543-51.
105. Ellis NA, Lennon DJ, Proytcheva M, Alhadeff B, Henderson EE, German J. Somatic intragenic recombination within the mutated locus BLM can correct the sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet 1995; 57: 1019-27.
106. Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P. Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 1994; 94: 1657-61.
107. Gregory JJ, Wagner JE, Verlander PC et al. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proc Natl Acad Sci USA 2001; 98: 2532-7.
108. Battaile KP, Bateman R, Mortimer D et al. In vivo selection of wild-type hematopoietic stem cells in a murine model of Fanconi anemia. Blood 1999; 94: 2151-8.
109. Whitney MA, Royle G, Low MJ et al. Germ cell defects and hematopoietic hypersensitivity to γ-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood 1996; 88: 49-58.
110. Chen M, Tomkins DJ, Auerbach W et al. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat Genet 1996; 12: 448-51.
111. Cheng NC, van de Vrugt H, van der Valk MA et al. Mice targeted disruption of the Fanconi anemia homolog, Fanca. Hum Mol Genet 2000; 9: 1805-11.
112. Haneline LS, Gobbett TA, Ramani R et al. Loss of Fancc function results in decreased hematopoietic stem cell repopulating ability. Blood 1999; 94: 1-8.
113. Haneline LS, Broxmeyer HE, Cooper S et al. Multiple inhibitory cytokines induce deregulated progenitor growth and apoptosis in hematopoietic cells from Fac-/-mice. Blood 1998; 98: 4092-8.
114. Carreau M, Gan OI, Doedens M, Dick JE, Buchwald M. Hematopoietic compartment of Fanconi anemia group C null mice contains fewer lineagenegative CD34+ primitive hematopoietic cells and shows reduced reconstitution ability. Exp Hematol 1999; 27: 1667-74.
115. Carreau M, Gan OI, Liu L et al. Bone marrow failure in the Fanconi anemia group C mouse model after DNA damage. Blood 1998; 91: 2737-44.
116. Otsuki T, Wang J, Demuth I, Digweed M, Liu JM. Assessment of mitomycin C sensitivity in Fanconi anemia complementation group C gene (Fac) knock-out mouse cells. Int J Hematol 1998; 67: 243-8.
117. Otsuki T, Nagakura S, Wang J, Bloom M, Grompe M, Liu JM. Tumor necrosis factor-a CD95 ligation suppress erythropoiesis in Fanconi anemia C gene knockout mice. J Cell Physiol 1999; 179: 79-86.
118. Wang J, Youssoufian H, Lo Ten Foe JR et al. Over-expression of the Fanconi anemia group C gene (FAC) protects hematopoietic progenitors from fas-mediated apoptosis. Blood 1996; 88: 548a.
119. Rathburn RK, Faulkner GR, Ostroski MH et al. Inactivation of the Fanconi anemia group C gene augments interferon-a-induced apoptotic responses in hematopoietic cells. Blood 1997; 90: 974-85.
120. Segal GM, Magenis RE, Brown M et al. Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. J Clin Invest 1994; 4: 846-52.
121. Cumming RC, Liu JM, Youssoufian H, Buchwald M. Suppression of apoptosis in hematopoietic factor-dependent progenitor cell lines by expression of the FAC gene. Blood 1996; 8: 4558-67.
122. Bagby GC, Segal GM, Auerbach AD, Onega T, Keeble W, Heinrich MC. Constitutive and induced expression of hematopoietic growth factor genes by fibroblasts from children with Fanconi anemia. Exp Hematol 1993; 21: 1419-26.
123. Bagnara GP, Strippoli P, Bonsi L et al. Effect of stem cell factor on colony growth from acquired and constitutional (Fanconi) aplastic anemia. Blood 1992; 80: 382-7.
124. Lyman SD, Seaberg M, Hanna R et al. Plasma/ serum levels of flt3 ligand are low in normal individuals and highly elevated in patients with Fanconi anemia and acquired aplastic anemia. Blood 1995; 86: 4091-6.
125. Rathburn RK, Faulkner GR, Ostroski MH et al. Inactivation of the Fanconi anemia group C gene augments interferon α-induced apoptotic responses in hematopoietic cells. Blood 1997; 90: 974-85.
126. Schultz JC, Shahidi NT. Tumor necrosis factora overproduction in Fanconi's anemia. Am J Hematol 1993; 42: 196-201.
127. Shahidi NT, Diamond LK. Testosterone-induced remission in aplastic anemia. Am J Dis Child 1959; 98: 293-302.
128. Sanchez-Medal L. The hemopoietic action of androstanes. Prog Hematol 1971; 7: 111-36.
129. Najean Y. Androgen therapy in aplastic anemia in childhood. In: Congenital Disorders of Erythropoiesis. Ciba Foundation Symposium 37. Amsterdam: Elsevier, 1976: pp. 354-63.
130. Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan D, Oski F, eds. Hematology of Infancy and Childhood, 4th edn. Philadelphia: WB Saunders, 1993: pp. 216-316.
131. Shahidi NT. Potential benefits of vitamins for FA patients. In: Frohnmayer D, Frohnmayer L, editors. Fanconi Anemia: A Handbook for Families and Physicians, 2nd ed. Eugene, OR: Fanconi Anemia Research Fund, 2003: pp. 57-60.
132. Rackoff WR, Orazi A, Robinson CA et al. Prolonged administration of granulocyte colonystimulating factor (filgrastim) to patients with Fanconi anemia: a pilot study. Blood 1996; 88: 1588-93.
133. Guinan EC, Lopez KD, Huhn RD, Felser JM, Nathan DG. Evaluation of granulocyte-macrophage colony-stimulating factor for treatment of pancytopenia in children with Fanconi anemia. Pediatrics 1994; 124: 144-50.
134. Gluckman E, Devergie A, Schaison G et al. Bone marrow transplantation in Fanconi anaemia. Br J Haematol 1980; 45: 557-64.
135. Gluckman E, Devergie A, Dutreix J. Radio-sensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantation. Br J Haematol 1983; 54: 431-40.
136. Berger R, Bernheim A, Gluckman E, Gisselbrecht C. In vitro effect of cyclophosphamide metabolites on chromosomes of Fanconi anaemia patients. Br J Haematol 1980; 45: 565-8.
137. Auerbach AD, Adler B, O'Reilly RJ, Kirkpatrick D, Chaganh RS. Effect of procarbazine and cyclophosphamide on chromosomal breakage in Fanconi anemia cells: relevance to bone marrow transplantation. Cancer Genet Cytogenet 1983; 9: 25-36.
138. Gluckman E, Berger R, Dutreix J. Bone marrow transplantation for Fanconi anemia. Semin Hematol 1984; 21: 20-6.
139. Gluckman E, Auerbach AD, Horowitz MM et al. Bone marrow transplantation for Fanconi anemia. Blood 1995; 86: 2856-62.
140. IBMTR/ABMTR Newsletter 1 February 2002; 9(1).
141. Hows JM, Chapple M, Marsh JCW et al. Bone marrow transplantation for Fanconi's anaemia: the Hammersmith experience 1977-89. Bone Marrow Transplant 1989; 4: 629-34.
142. Di Bartolomeo P, Di Girolamo G, Olioso P et al. Allogeneic bone marrow transplantation for Fanconi anemia. Bone Marrow Transplant 1992; 10: 53-6.
143. Kohli-Kumar M, Morris C, DeLaat C et al. Bone marrow transplantation in Fanconi anemia using matched sibling donors. Blood 1994; 84: 2050-4.
144. Gluckman E. Bone marrow transplantation in Fanconi's anemia. Stem Cells 1993; 11: 180-3.
145. Socié G, Gluckman E, Raynal R et al. Bone marrow transplantation for Fanconi anemia using low dose cyclophosphamide/thoraco-abdominal irradiation as conditioning regimen: chimerism study by the polymerase chain reaction. Blood 1993; 82: 2249-56.
146. Ayas M, Solh H, Mustafa MM et al. Bone marrow transplantation from matched siblings in patients with Fanconi anemia utilizing low-dose cyclophosphamide, thoracoabdominal radiation and anti-thymocyte globulin. Bone Marrow Transplant 2001; 27: 139-43.
147. DuFour C, Rondelli R, Locatelli F et al. Stem cell transplantation from HLA-matched related donor for Fanconi's anaemia: a retrospective review of the multicentric Italian experience on behalf of AIEOP-GITMO. Br J Haematol 2001; 112: 796-805.
148. Farzia A, Davies SM, Smith FO et al. Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience. Br J Haematol 2007; 136: 633-40.
149. Barrett AJ, Brigden WD, Hobbs JR et al. Successful bone marrow transplant for Fanconi's anaemia. BMJ 1977; 1: 420-2.
150. Kersey JH, Krivit W, Nesbit ME et al. Combined cyclophosphamide-total lymphoid irradiation compared to other forms of immunosuppression for human marrow transplantation. In: Baum SJ, Ledney GD, eds. Experimental Hematology Today 1979. New York: Springer-Verlag, 1979: pp. 179-84.
151. Holl RA, Dooren LJ, Vossen JMJJ, Roos MTL, Schelleke PTA. Bone marrow transplantation in children with severe aplastic anemia. Reconstitution of cellular immunity. Transplantation 1981; 32: 418-23.
152. Flowers MED, Doney KC, Storb R et al. Marrow transplantation for Fanconi anemia with or without leukemic transformation: an update of the Seattle experience. Bone Marrow Transplant 1992; 9: 167-73.
153. Ratanatharathorn V, Karanes C, Uberti J et al. Busulfan-based regimens and allogeneic bone marrow transplantation in patients with myelodysplastic syndromes. Blood 1993; 81: 2194-9.
154. Flowers ME, Zanis J, Pasquini R et al. Marrow transplantation for Fanconi anaemia: conditioning with reduced doses of cyclophosphamide without radiation. Br J Haematol 1996; 92: 699-706.
155. Maschan AA, Kryzanovskii OI, Yourlova MI et al. Intermediate-dose busulfan and cyclophosphamide as a conditioning regimen for bone marrow transplantation in a case of Fanconi anemia in myelodysplastic transformation. Bone Marrow Transplant 1997; 19: 385-7.
156. de Mederios CR, Zanis-Neto J, Pasquini R. Bone marrow transplantation for patients with Fanconi anemia. Reduced doses of cyclophosphamide without irradiation as conditioning. Bone Marrow Transplant 1999; 24: 849-52.
157. Aker M, Varadi G, Slavin S, Nagler A. Fludarabine-based protocol for human umbilical cord blood transplantation in children with Fanconi anemia. J Pediatr Hematol Oncol 1999; 21: 237-9.
158. Tan PL, Wagner JE, Auterbach AD, Defor TE, Slungaard A, MacMillan ML. Successful engraftment without irradiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation. Pediatr Blood Cancer 2006; 46: 630-6.
159. Ebell W. Transplant results and observations from our transplant expert in Germany. FA Family Newsletter 2002; 32: 5.
160. Torjemane L, Ladeb S, Ben Othman T, AbdelkefiA, Lakhal A, Ben Abdeladhim A. Bone marrow transplantation from matched related donors for patients with Fanconi anemia using low-dose busulfan and cyclophosphamide as conditioning. Pediatric Blood Cancer 2006; 46: 496-500.
161. de Mederios CR, Bitencourt MA, Zanis-Neto J et al. Allogeneic hematopoietic stem cell transplantation from an alternative stem cell source in Fanconi anemia patients: analysis of 47 patients from a single institution. Braz J Med Biol Res 2006; 39: 1297-304.
162. Bonfim C, de Medeiros CR, Bitencourt M et al. Stem cell transplantation for Fanconi anemia using HLA identical related donors: the Brazilian experience in 42 patients. Bone Marrow Transplant 2006; 37(S1); S53.
163. Davies SM, Khan S, Wagner JE et al. Unrelated donor bone marrow transplantation for Fanconi anemia. Bone Marrow Transplant 1996; 17: 43-7.
164. Dini G, Miano M, Mazzalari E et al. Unrelated donor marrow transplantation for genetic diseases. Bone Marrow Transplant 1997; 19: 176-82.
165. Guardiola P, Pasquini R, Dokal I et al. Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation. Blood 2000; 95: 422-9.
166. MacMillan ML, Auerbach AD, Davies SM et al. Haematopoietic cell transplantation in patients with Fanconi anemia using alternate donors: results of a total body irradiation dose escalation trial. Br J Haematol 2000; 109: 121-9.
167. Wagner JE, Eapen M, MacMillan ML, et al. Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia. Blood 2007; 109: 2256-62.
168. Gluckman E, Rocha V, Ionescu I et al. Results of unrelated cord blood transplant in Fanconi anemia patients: risk factor analysis for engraftment and survival. Biol Blood Marrow Transplant 2007; 13: 1073-82.
169. Chaudhury S, Auerbach AD, Kernan NA et al. Fludarabine-based cytoreductive regiment and Tcell depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anemia. Br J Haematol 2008; 140: 644-55.
170. MacMillan ML, Auerbach AD, Davies SM et al. Hematopoietic cell transplantation in patients with Fanconi anemia using non-genotypically identical donors: results of a TBI dose escalation trial. Br J Haematol 2000; 108: 1-10.
171. Amagai T, Kina T, Hirokawa K, Nishikawa S, Imanishi J, Katsura Y. Dysfunction of irradiated thymus for the development of helper T cells. J Immunol 1987; 139: 358-64.
172. Motwani J, Lawson SE, Darbyshire PJ. Successful HSCT using non-radiotherapy-based conditioning regimens and alternative donors in patients with Fanconi anaemia -experience in a single UK centre. Bone Marrow Transplant 2005, 36: 405-10.
173. 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: 386-92.
174. Socie G, Devergie A, Girinski T et al. Transplantation of Fanconi's anaemia: long-term follow-up of fifty patients transplanted from a sibling donor after low dose cyclophosphamide and thoracoabdominal irradiation for conditioning. Br J Haematol 1998; 103: 249-55.
175. Reed K, Ravikumar TS, Gifford RR, Grage TB. The association of Fanconi's anemia and squamous cell carcinoma. Cancer 1983; 52: 926-8.
176. Liu JM, Kim S, Read EJ et al. Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANCC). Hum Gene Ther 1999; 10: 2337-46.
177. Walsh CE, Mann MM, Emmons RVB, Wang S, Liu JM. Transduction of CD34-enriched human peripheral and umbilical cord blood progenitors using a retroviral vector with the Fanconi anemia group C gene. J Invest Med 1995; 43: 379-85.
178. Walsh C, Fu K, Brecher M, Kirby S, DiBartolomeo P, Jacobs P. Retroviral mediated gene transfer for group A Fanconi anemia patients. Fanconi Anemia Research Fund Scientific Symposium 2000: 46a.
179. Galimi F, Noll M, Kanazawa Y et al. Gene therapy of Fanconi anemia: preclinical efficacy using lentiviral vectors. Blood 2002; 100: 2732-6.
180. Jiang Y, Jahagirdar B, Reinhardt RL et al. Pluripotency of mesenchymal stem cells derived from adult marrow. Nature 2002; 418: 41-9.
181. Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA 2001; 285: 3130-3.
182. Verlinsky Y, Kuliev A, editors. An Atlas of Pre-implantation Genetic Diagnosis. New York: Parthenon, 2000.
183. Robertson JA, Kahn JP, Wagner JE. Conception to obtain hematopoietic stem cells. Hastings Cent Rep 2002; 32: 34-40.