Diagnosis of Fanconi anemia in Patients with bone marrow failure

Haematologica

Volumn 94, Issue 4, 2009, Pages 487-495

  Pinto, Fernando O ^a,b   Leblanc, Thierry ^a   Chamousset, Delphine ^a,b   Roux, Gwenaelle Le ^a,b   Brethon, Benoit ^a   Cassinat, Bruno ^a   Larghero, Jérôme ^a   Villartay, Jean Pierre De ^a   Stoppa Lyonnet, Dominique ^a,c   Baruchel, André ^a   Socié, Gérard ^a   Gluckman, Eliane ^a   Soulier, Jean ^a,d,e  

^a SAINT LOUIS HOSPITAL   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d INSTITUT CURIE   (France)

^e Institut Universitaire d'Hématologie   (France)

Author keywords

Fanconi anemia; Fibroblasts; Inherited aplastic anemia bone marrow failure; Somatic mosaicism

Indexed keywords

FANCONI ANEMIA GROUP D2 PROTEIN; MITOMYCIN C;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; BLOOD ANALYSIS; BONE MARROW DEPRESSION; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOME BREAKAGE; CONTROLLED STUDY; FANCONI ANEMIA; FEMALE; FLOW CYTOMETRY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; MOSAICISM; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SCHOOL CHILD; SENSITIVITY ANALYSIS; SKIN FIBROBLAST; UBIQUITINATION;

ADOLESCENT; ADULT; BONE MARROW DISEASES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYTOGENETIC ANALYSIS; DIAGNOSTIC TECHNIQUES AND PROCEDURES; FANCONI ANEMIA; FEMALE; FIBROBLASTS; HUMANS; INFANT; LYMPHOCYTES; MALE; MIDDLE AGED; MITOMYCIN; YOUNG ADULT;

EID: 66349138262     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.13592     Document Type: Article

References (36)

1. Young NS, Calado RT, Scheinberg P. Current concepts in the pathophysi- ology and treatment of aplastic ane- mia. Blood 2006;108:2509-19.
2. th ed. Philadelphia: Saunders 2003. p. 280-365.
3. Dokal I, Vulliamy T. Inherited aplas- tic anaemias/bone marrow failure syndromes. Blood Rev 2008;22:141-53.
4. Glanz A, Fraser FC. Spectrum of anomalies in Fanconi anaemia. J Med Genet 1982;19:412-6.
5. 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.
6. Alter BP. Fanconi's anaemia and its variability. Br J Haematol 1993;85:9-14.
7. Giampietro PF, Verlander PC, Davis JG, Auerbach AD. Diagnosis of Fanconi anemia in patients without congenital malformations: an inter- national Fanconi Anemia Registry Study. Am J Med Genet 1997;68:58-61.
8. Esmer C, Sanchez S, Ramos S, Molina B, Frias S, Carnevale A. DEB test for Fanconi anemia detection in patients with atypical phenotypes. Am J Med Genet A 2004;124A:35-9.
9. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Auerbach AD. Hematologic abnormalities in Fanconi anemia diagnosis in Fanconi anemia: an International Fanconi Anemia Registry study. Blood 1994;84:1650-5.
10. Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003;101: 1249-56.
11. Alter BP. Cancer in Fanconi anemia, 1927-2001. Cancer 2003;97:425-40.
12. Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 2008;93:511-7.
13. 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.
14. Locasciulli A, Oneto R, Bacigalupo A, Socie G, Korthof E, Bekassy A, et al. Outcome of patients with acquired aplastic anemia given first line bone marrow transplantation or immunosuppressive treatment in the last decade: a report from the European Group for Blood and Marrow Transplantation (EBMT). Haematologica 2007;92:11-8.
15. Wagner JE, Eapen M, Macmillan ML, Harris RE, Pasquini R, Boulad F, et al. Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia. Blood 2006;109: 2256-62.
16. Bonfim CM, de Medeiros CR, Bitencourt MA, Zanis-Neto J, Funke VA, Setubal DC, et al. HLA-matched related donor hematopoietic cell transplantation in 43 patients with Fanconi anemia conditioned with 60 mg/kg of cyclophosphamide. Biol Blood Marrow Transplant 2007;13: 1455-60.
17. Gluckman E, Wagner JE. Hemato- poietic stem cell transplantation in childhood inherited bone marrow failure syndrome. Bone Marrow Transplant 2008;41:127-32.
18. Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev 2001;2: 446-57.
19. Levitus M, Rooimans MA, Stelten- pool J, Cool NF, Oostra AB, Mathew CG, et al. Heterogeneity in Fanconi anemia: evidence for two new genetic subtypes. Blood 2003; 103: 2498-503.
20. Taniguchi T, D'Andrea AD. Mol- ecular pathogenesis of Fanconi ane- mia: recent progress. Blood 2006; 107:4223-33.
21. Wang W. Emergence of a DNA- damage response network consist- ing of Fanconi anaemia and BRCA proteins. Nature Rev 2007;8: 735-48.
22. Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood 1989;73:391-6.
23. Seyschab H, Friedl R, Sun Y, Schindler D, Hoehn H, Hentze S, et al. Comparative evaluation of di- epoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia. Blood 1995;85: 2233-7.
24. Shimamura A, de Oca RM, Svenson JL, Haining N, Moreau LA, Nathan DG, et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 2002;100:4649-54.
25. Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, et al. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet 1997;5:137-48.
26. Waisfisz Q, Morgan NV, Savino M, de Winter JP, van Berkel CG, Hoatlin ME, et al. Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mech- anistic basis for reverse mosaicism. Nat Genet 1999;22:379-83.
27. Gross M, Hanenberg H, Lobitz S, Friedl R, Herterich S, Dietrich R, et al. Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. Cyto- genet Genome Res 2002;98: 126-35.
28. Auerbach AD. Diagnosis of fanconi anemia by diepoxybutane analysis. Curr Protoc Hum Genet 2003; Chapter 8:Unit 8-7.
29. Soulier J, Leblanc T, Larghero J, Dastot H, Shimamura A, Guardiola P, et al. Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway. Blood 2005;105:1329-36.
30. Antonio Casado J, Callen E, Jacome A, Rio P, Castella M, Lobitz S, et al. A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network. J Med Genet 2007;44:241-9.
31. Fohlmeister I, Fischer R, Modder B, Rister M, Schaefer HE. Aplastic anaemia and the hypocellular myelodysplastic syndrome: histo- morphological, diagnostic, and pro- gnostic features. J Clin Pathol 1985; 38:1218-24.
32. Zuber TJ. Punch biopsy of the skin. American family physician 2002;65: 1155-8.
33. Oumouna M, Jaso-Friedmann L, Evans DL. Flow cytometry-based assay for determination of teleost cytotoxic cell lysis of target cells. Cytometry 2001;45:259-66.
34. Gennery AR, Slatter MA, Bhatta- charya A, Barge D, Haigh S, O'Dri- scoll M, et al. The clinical and bio- logical overlap between Nijmegen Breakage Syndrome and Fanconi anemia. Clin Immunol 2004;113: 214-9.
35. Mankad A, Taniguchi T, Cox B, Akkari Y, Rathbun RK, Lucas L, et al. Natural gene therapy in monozygot- ic twins with Fanconi anemia. Blood 2006;107:3084-90.
36. Huck K, Hanenberg H, Gudowius S, Fenk R, Kalb R, Neveling K, et al. Delayed diagnosis and complica- tions of Fanconi anaemia at advanced age-a paradigm. Br J Haematol 2006;133:188-97.