Bone marrow failure syndromes in children

Pediatric Clinics of North America

Volumn 49, Issue 5, 2002, Pages 973-988

  Alter, Blanche P ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; LEUKOCYTE ELASTASE; PROTEIN P53; THROMBOPOIETIN RECEPTOR;

ACIDOSIS; ACUTE GRANULOCYTIC LEUKEMIA; APLASTIC ANEMIA; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BIRTH DEFECT; BLACKFAN DIAMOND ANEMIA; BONE MARROW DEPRESSION; CHILD; CYTOPENIA; DISEASE SEVERITY; DNA DAMAGE; DYSKERATOSIS CONGENITA; ERYTHROBLASTOPENIA; ERYTHROPOIESIS; FANCONI ANEMIA; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; GROWTH RETARDATION; GYNECOLOGIC CANCER; HEAD AND NECK CANCER; HEMATOPOIESIS; HETEROPLASMY; HUMAN; MEGAKARYOCYTE; NEUTROPENIA; OSTEOSARCOMA; PANCYTOPENIA; PEARSON SYNDROME; PHENOTYPE; PHYSICAL DEVELOPMENT; PRELEUKEMIA; REVIEW; RISK FACTOR; SHWACHMAN SYNDROME; SOLID TUMOR; TELOMERE; THROMBOCYTE; THROMBOCYTOPENIA; TUMOR SUPPRESSOR GENE; X CHROMOSOME LINKED DISORDER;

AGE FACTORS; BONE MARROW DISEASES; CHILD; HUMANS; SYNDROME;

EID: 0036775612     PISSN: 00313955     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0031-3955(02)00031-7     Document Type: Review

References (70)

1. Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Ginsburg D, Look T, editors. Hematology of Infancy and Childhood. 6th Edition. Philadelphia, Harcourt Health Sciences, 2002. In press.
2. Young NS, Alter BP. Aplastic Anemia: Acquired and Inherited. Philadelphia: W. B. Saunders; 1994. p. 1-410
3. Rosendorff J, Bernstein R, Macdougall L, et al. Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet 1987;27:793-7.
4. Schroeder TM, Tilgen D, Kruger J, et al. Formal genetics of Fanconi's anemia. Hum Genet 1976;32:257-88.
5. Verlander PC, Kaporis A, Liu Q, et al. Carrier frequency of the IVS4 + 4 A - T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 1995;86:4034-8.
6. Auerbach AD, Alter BP. Prenatal and postnatal diagnosis of aplastic anemia. In: Alter BP, editor. Methods in Hematology: Perinatal Hematology. Edinburgh: Churchill Livingstone; 1989. p. 225-251.
7. Gregory Jr. 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.
8. Lo Ten Foe JR, Kwee ML, Rooimans MA, et al. Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance. Eur J Hum Genet 1997;5:137-48.
9. Faivre L, Guardiola P, Lewis C, et al. For the EUFAR Association of complementation group and mutation type with clinical outcome in Fanconi anemia. Blood 2000;96:4064-70.
10. Garcia-Hignera I, Taniguchi T, Ganesan S, et al. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell 2001;7:1-20.
11. Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi Anaemia. Nat Rev Genet 2001;2:446-59.
12. Guardiola P, Socie G, Pasquini R, et al. Allogeneic stem cell transplantation of Fanconi Anaemia. Bone Marrow Transplant 1998;21:s24-7.
13. 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.
14. Alter BP, Caruso JP, Drachtman RA, et al. Fanconi's anemia: Myelodysplasia as a predictor of outcome. Ca Genet Cytogenet 2000;117:125-31.
15. Alter BP. Fanconi's anemia and malignancies. Am J Hematol 1996;53:99-110.
16. Socie G, Devergie A, Girinski T, et al. Transplantation for Fanconi's anaemia: Long-term follow-up of fifty patients transplanted from a sibling donor after low-dose cyclophosphamide and thoraco-abdominal irradiation for conditioning. Br J Haematol 1998;103:249-55.
17. Verlinsky Y, Rechistky S, Schoolcraft W, et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA 2001;285:3130-3.
18. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000;110:768-79.
19. Dokal I, Luzzatto L. Dyskeratosis congenita is a chromosomal instability disorder. Leuk & Lymph 1994;15:1-7.
20. Heiss NS, Knight SW, Vulliamy TJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998;19: 32-8.
21. Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999;402:551-5.
22. Vulliamy TJ, Knight SW, Mason PJ, et al. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells. Molecules and Diseases 2001;27:353-7.
23. Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432-5.
24. Berthou C, Devergie A, D'Agay MF, et al. Late vascular complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol 1991;79:335-44.
25. Alter BP, Gardner FH, Hall RE. Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin. Br J Haematol 1997;97:309-11.
26. Ginzberg H, Shin J, Ellis L, et al. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999;135:81-8.
27. Ginzberg H, Shin J, Ellis L, et al. Segregation analysis in Shwachman-Diamond syndrome: Evidence for recessive inheritance. Am J Hum Genet 2000;66:1413-6.
28. Goobie S, Popovic M, Morrison J, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet 2001;68:1048-54.
29. Dror Y, Freedman MH. Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. Blood 2001;97:3011-6.
30. Smith O, Hann IM, Chessells JM, et al. Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol 1996;94:279-84.
31. Dror Y, Durie P, Marcon P, et al. Duplication of distal thumb phalanx in Shwachman-Diamond Syndrome. Am J Med Genet 1998;78:67-9.
32. Makitie O, Pukkala E, Teppo L, et al. Increased incidence of cancer in patients with cartilage-hair hypoplasia. J Pediatr 1999;134:315-8.
33. Ridanpaa M, van Eenennaam H, Pelin K, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 2001;104:195-203.
34. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95:976-84.
35. Rotig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86:1601-8.
36. Emile J-F, Geissmann F, de la Calle Martin O, et al. Langerhans cell deficiency in reticular dysgenesis. Blood 2000;96:58-62.
37. Cremer M, Schulze H, Linthorst G, et al. Serum levels of thrombopoietin, IL-11, and IL-6 in pediatric thrombocytopenias. Ann Hematol 1999;78:401-7.
38. Ihara K, Ishii E, Eguchi M, et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci USA 1999;96:3132-6.
39. Arias S, Penchaszadeh VB, Pinto-Cistemas J, et al. The IVIC syndrome: A new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. Am J Med Genet 1980;6:25-59.
40. Neri G, Sammito V. Re: IVIC Syndrome report by Czeizel et al: Am J Med Genet 1989;33:284.
41. Gonzalez CH, Durkin-Stamm MV, Geimer NF, et al. The WT syndrome - A "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia. Birth Defects: Original Article Series XIII 1977;3B:31-8.
42. Smith ACM, Hays T, Harvey LA, et al. WT syndrome: A third family. Am J Hum Genet 1987; 41:A84.
43. Dokal I, Ganly P, Riebero I, et al. Late onset bone marrow failure associated with proximal fusion of radius and ulna: A new syndrome. Br J Haematol 1989;71:277-80.
44. Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 2000;26:397-8.
45. Gonzalez-Del Angel A, Cervera M, Gomez L, et al: Ataxia-pancytopenia syndrome. Am J Med Genet 2000;90:252-4.
46. Li FP, Hecht F, Kaiser-McCaw B, et al. Ataxia-pancytopenia: Syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. Canc Genet Cytogenet 1981;4:189-96.
47. Hara T, Mizuno Y, Nagata M, et al. Human cd T-cell receptor-positive cell-mediated inhibition of erythropoiesis in vitro in a patient with Type I autoimmune polyglandular syndrome and pure red blood cell aplasia. Blood 1990;75:941-50.
48. Li FP, Marchetto DJ, Vawter GR. Acute leukemia and preleukemia in eight males in a family: An X-linked disorder? Am J Hematol 1979;6:61-9.
49. Sleijfer DT, Mulder NH, Niewig HO, et al. Acquired pancytopenia in relatives of patients with aplastic anaemia. Acta Med Scand 1980;207:397-402.
50. Diamond LK, Blackfan KD. Hypoplastic anemia. Am J Dis Child 1938;56:464-7.
51. Josephs HW. Anaemia of infancy and early childhood. Medicine (Baltimore) 1936;15:307-402.
52. Willig T, Draptchinskaia N, Dianzani I, et al. Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: Wide variations in phenotypic expression. Blood 1999;94:4294-306.
53. Glader BE, Backer K. Elevated red cell adenosine deaminase activity: A marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br J Haematol 1988;68:165-8.
54. Alter BP, Knobloch ME, He L, et al. Effect of stem cell factor on in vitro erythropoiesis in patients with bone marrow failure syndromes. Blood 1992;80:3000-8.
55. Perdahl EB, Naprstek BL, Wallace WC, et al. Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. Blood 1994;83:645-50.
56. Gazda H, Lipton JM, Willig T-N, et al. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood 2001;97:2145-50.
57. Olivieri NF, Brittenham GM. Iron-chelating therapy and the treatment of thalassmia. Blood 1997;89:739-61.
58. Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin SH, editors. Hematology of Infancy and Childhood, 5th Edition. Philadelphia: WB Saunders, 1998, p. 237-335.
59. Vlachos A, Federman N, Reyes-Haley C, et al. Diamond-Blackfan anaemia. Hematopoietic stem cell transplantation for Diamond Blackfan anemia: A report from the Diamond Blackfan Anemia Registry. Bone Marrow Transplant 2001;27:381-6.
60. Kostmann R. Infantile genetic agranulocytosis. A new recessive lethal disease in man. Acta Paediatr Scand 1956;45:1-78.
61. Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000;96:2317-22.
62. Bonilla MA, Gillio AP, Ruggeiro M, et al. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 1989;320:1574-80.
63. Fewtrell MS, Kinsey SE, Williams DM, et al. Bone mineralization and turnover in children with congenital neutropenia, and its relationship to treatment with recombinant human granulocytecolony stimulating factor. Br J Haematol 1997;97:7434-6.
64. Freedman MH, Bonilla MA, Fier C, et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 2000;96:429-36.
65. Dong F, Brynes RK, Tidow N, et al. Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med 1995;333:487-93.
66. Kalra R, Dale D, Freedman M, et al. Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia. Blood 1995;86:4579-86.
67. Brochstein JA, Shank B, Kernan NA, et al. Marrow transplantation for thrombocytopenia-absent radii syndrome. J Pediatr 1992;121:587-90.
68. Nichols KE, Malkin D, Garber JE, et al. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiology. Biomarkers & Prevention 2001;10:83-7.
69. Germeshausen M, Schulze H, Ballmaier M, et al. Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia. Br J Haematol 2001;115:222-4.
70. Horwitz M, Benson KF, Person RE, et al. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 1999;23:433-6.