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Annals of Hematology
Published in: Annals of Hematology 4/2003

01-04-2003 | Original Article

Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane

Authors: A. Deviren, N. Yalman, S. Hacihanefioglu

Published in: Annals of Hematology | Issue 4/2003

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Abstract

Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. According to our study, NTM seems more specific to identify chromosomal breakages in FA parents than DEB.
Literature
1.
Adelfalk C, Lorenz M, Serra V, et al. (2001) Accelerated telomere shortening in Fanconi anemia fibroblasts—a longitudinal study. FEBS Lett 506:22–26CrossRefPubMed
2.
Arwert F, Kwee ML (1989) Chromosomal breakage in response to cross-linking agents in the diagnosis of Fanconi anemia. In: Schroeder-Kurth TM, Auerbach AD, Obe G (eds) Fanconi anemia, clinical, cytogenetic and experimental aspects. Springer, Berlin Heidelberg New York, pp 83–92
3.
Auerbach AD, Wolman SR (1978) Carcinogen-induced chromosome breakage in Fanconi's anemia heterozygous cells. Nature 271:69PubMed
4.
Auerbach AD, Warburton D, Bloom AD, et al. (1979) Prenatal detection of the Fanconi anemia gene by cytogenetic methods. Am J Hum Genet 31:77–81PubMed
5.
Auerbach AD, Adler B, Chaganti RSK (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67:128–135PubMed
6.
Auerbach AD, Ghosh R, Pollio PC, et al. (1989) Diepoxybutane test for prenatal and postnatal diagnosis of Fanconi anemia. In: Schroder-Kurth TM, Auerbach AD, Obe G. (eds) Fanconi anemia, clinical, cytogenetic and experimental aspects. Springer, Berlin Heidelberg New York, pp 71–82
7.
Barquinero JF, Barrios L, Ribas M, et al. (2001) Cytogenetic sensitivity of three Fanconi anemia heterozygotes to bleomycin and ionizing radiation. Cancer Genet Cytogenet 124:80–83CrossRefPubMed
8.
Berger R, Le Coniat M, Gendron MC (1993) Fanconi anemia. Chromosome breakage and cell cycle studies. Cancer Genet Cytogenet 69:13–16CrossRefPubMed
9.
Centurion SA, Kuo HR, Lambert WC (2000)Damage-resistant DNA synthesis in Fanconi anemia cells treated with a DNA cross-linking agent. Exp Cell Res 260:216–221CrossRefPubMed
10.
D'Andrea AD (1996) Fanconi anemia forges a novel pathway. Nat Genet 14:240–242PubMed
11.
Demuth I, Wlodarski M, Tipping AJ, et al. (2000) Spectrum of mutations in the Fanconi anemia group G gene, FANCG/XRCC9. Eur J Hum Genet 8:861–868CrossRefPubMed
12.
De Silva IU, Mc Hugh PJ, Clingen PH, et al. (2000) Defining the roles of nucleotide excision repair and recombination in the repair of DNA interstrand cross-links in mammalian cells. Mol Cell Biol 20:7980–7990CrossRefPubMed
13.
Djuzenova CS, Rothfuss A, Oppitz U, et al. (2001) Response to X-irradiation of Fanconi anemia homozygous and heterozygous cells assessed by the single-cell gel electrophoresis (comet) assay. Lab Invest 81:185–192
14.
15.
Foe JRLT, Rooimans MA, Collins LB, et al. (1996) Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet 14:320–323PubMed
16.
17.
Hanson H, Mathew CG, Docherty Z, et al. (2001) Telomere shortening in Fanconi anemia demonstrated by a direct FISH approach. Cytogenet Cell Genet 93:203–206CrossRefPubMed
18.
Joenje H, Oostra AB, Wijker M, et al. (1997) Evidence for at least eight Fanconi anemia genes. Am J Hum Genet 61:940–944
19.
Joenje H, Arwert F, Kwee ML, et al. (1998) Confounding factors in the diagnosis of Fanconi anemia. Am J Med Genet 79:403–404CrossRefPubMed
20.
Johnstone PL, Kohler SL, Olson SB, et al. (1997) Cell cycle checkpoints and DNA strand break processing are normal in Fanconi anemia group A and D. Am J Hum Genet 61:A69
21.
Kruyt FA, Youssoufian H (2000) Do Fanconi anemia genes control cell response to cross-linking agents by modulating cytochrome p-450 reductase activity? Drug Resist Update 3:211–215CrossRef
22.
Mondovits B, Vermylen C, Brichard B, et al. (2001) Fanconi's anemia and molecular biology research. Arch Pediatr 8:853–860CrossRefPubMed
23.
Recio L, Steen A, Pluta LJ, et al. (2001) Mutational spectrum of 1,3-butadiene and metabolites 1,2-epoxybutane and 1,2,3,4-diepoxybutane to assess mutagenic mechanisms. Chem Biol Interact 135–136:325–341
24.
Savino M, Ianzano L, Strippoli P, et al. (1997) Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. Am J Hum Genet 61:1246–1253CrossRefPubMed
25.
Shimamura A, Montes De Oca R, Svenson JL, et al. (2002) A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 100:4649–4654CrossRefPubMed
26.
The Fanconi Anemia/Breast Cancer Consortium (1996) Positional cloning of the Fanconi anemia group A gene. Nat Genet 14:324–328PubMed
27.
Timmers C, Taniguchi T, Hejna J, et al. (2001) Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell 7:241–248PubMed
28.
Trepat MS, Rouillard D, Escarceller M, et al. (2000) Arrest of S-phase progression is impaired in Fanconi anemia cells. Exp Cell Res 260:208–215CrossRefPubMed
29.
van de Vrugt HJ, Cheng NC, de Vries Y, et al. (2000) Cloning and characterization of murine Fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary. Mamm Genome 11:326–331CrossRefPubMed
30.
Wijker M, Morgan NV, Herterich S, et al. (1999) Heterogeneous spectrum of mutations in the Fanconi anemia group A gene. Eur J Hum Genet 7:52–59PubMed
31.
Yamashita T, Nakahata T (2001) Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes. Int Hematol 74:33–41
32.
Zatterale A, Kelly FJ, Korkina LG, et al. (1999) Oxidative stress in cancer prone genetic diseases: a review. Ann Ist Super Sanita 35:205–209PubMed
Metadata
Title
Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane
Authors
A. Deviren
N. Yalman
S. Hacihanefioglu
Publication date
01-04-2003
Publisher
Springer-Verlag
Published in
Annals of Hematology / Issue 4/2003
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-003-0614-4

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