Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia - PubMed (original) (raw)
Comparative Study
. 1995 Apr 15;85(8):2233-7.
Affiliations
- PMID: 7718895
Free article
Comparative Study
Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia
H Seyschab et al. Blood. 1995.
Free article
Abstract
Fanconi anemia (FA) is a clinically and genetically heterogenous disease that is usually diagnosed on the basis of chromosomal instability reflecting the hypersensitivity towards the DNA cross-linking agents diepoxybutane (DEB) and/or mitomycin C. A less well-known cellular feature that characterizes FA patients is an intrinsic cell cycle disturbance consisting of prolonged progression through, and arrest within, the G2 phase compartment of the cell cycle. In a collaborative blind study, we have evaluated 72-hour lymphocyte cultures from 66 patients with clinical suspicion of FA both for DEB sensitivity and cell cycle disturbance. A concordant result was obtained in 63 of 66 cases. Each of the 3 discordant, but only 1 of the concordant cases presented with overt leukemia. Seventeen cases were identified as classical FA because of their increased DEB sensitivity and G2 phase blockage. Five cases showed a cell cycle disturbance but only borderline DEB sensitivity. These cases might represent atypical or nonclassical forms of FA. They would have been missed by cell cycle studies without concomitant DEB testing. Used in conjunction, cytogenetic and flow cytometric testing provide for the currently optimal diagnosis of FA in nonleukemic patients.
Similar articles
- Flow cytometry for diepoxybutane test analysis.
Moreira CF, Brito LC Jr, Lemos JA. Moreira CF, et al. Genet Mol Res. 2008;7(4):1353-9. doi: 10.4238/vol7-4gmr510. Genet Mol Res. 2008. PMID: 19065770 - Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes.
Dallapiccola B, Porfirio B, Mokini V, Alimena G, Isacchi G, Gandini E. Dallapiccola B, et al. Hum Genet. 1985;69(1):62-5. doi: 10.1007/BF00295530. Hum Genet. 1985. PMID: 3967890 - DNA cross-linker-induced G2/M arrest in group C Fanconi anemia lymphoblasts reflects normal checkpoint function.
Heinrich MC, Hoatlin ME, Zigler AJ, Silvey KV, Bakke AC, Keeble WW, Zhi Y, Reifsteck CA, Grompe M, Brown MG, Magenis RE, Olson SB, Bagby GC. Heinrich MC, et al. Blood. 1998 Jan 1;91(1):275-87. Blood. 1998. PMID: 9414295 - Fanconi anemia and its diagnosis.
Auerbach AD. Auerbach AD. Mutat Res. 2009 Jul 31;668(1-2):4-10. doi: 10.1016/j.mrfmmm.2009.01.013. Epub 2009 Feb 28. Mutat Res. 2009. PMID: 19622403 Free PMC article. Review. - The genetics of Fanconi's anaemia.
Dokal I. Dokal I. Baillieres Best Pract Res Clin Haematol. 2000 Sep;13(3):407-25. doi: 10.1053/beha.2000.0085. Baillieres Best Pract Res Clin Haematol. 2000. PMID: 11030042 Review.
Cited by
- Reversion from basal histone H4 hypoacetylation at the replication fork increases DNA damage in FANCA deficient cells.
Teresa BG, Ayala-Zambrano C, González-Suárez M, Molina B, Torres L, Rodríguez A, Frías S. Teresa BG, et al. PLoS One. 2024 May 31;19(5):e0298032. doi: 10.1371/journal.pone.0298032. eCollection 2024. PLoS One. 2024. PMID: 38820384 Free PMC article. - The FANCI/FANCD2 complex links DNA damage response to R-loop regulation through SRSF1-mediated mRNA export.
Olazabal-Herrero A, He B, Kwon Y, Gupta AK, Dutta A, Huang Y, Boddu P, Liang Z, Liang F, Teng Y, Lan L, Chen X, Pei H, Pillai MM, Sung P, Kupfer GM. Olazabal-Herrero A, et al. Cell Rep. 2024 Jan 23;43(1):113610. doi: 10.1016/j.celrep.2023.113610. Epub 2024 Jan 1. Cell Rep. 2024. PMID: 38165804 Free PMC article. - A Narrative Review on Fanconi Anemia: Genetic and Diagnostic Considerations.
Sharma P, Sharma N, Sharma D. Sharma P, et al. Glob Med Genet. 2022 Sep 5;9(3):237-241. doi: 10.1055/s-0042-1751303. eCollection 2022 Sep. Glob Med Genet. 2022. PMID: 36071913 Free PMC article. Review. - Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a _NHEJ1_-Deficient Long-term Survivor.
Poyer F, Jimenez Heredia R, Novak W, Zeitlhofer P, Nebral K, Dworzak MN, Haas OA, Boztug K, Kager L. Poyer F, et al. Front Immunol. 2022 Jun 24;13:869047. doi: 10.3389/fimmu.2022.869047. eCollection 2022. Front Immunol. 2022. PMID: 35812385 Free PMC article. - A Summary of the Inaugural WHO Classification of Pediatric Tumors: Transitioning from the Optical into the Molecular Era.
Pfister SM, Reyes-Múgica M, Chan JKC, Hasle H, Lazar AJ, Rossi S, Ferrari A, Jarzembowski JA, Pritchard-Jones K, Hill DA, Jacques TS, Wesseling P, López Terrada DH, von Deimling A, Kratz CP, Cree IA, Alaggio R. Pfister SM, et al. Cancer Discov. 2022 Feb;12(2):331-355. doi: 10.1158/2159-8290.CD-21-1094. Epub 2021 Dec 17. Cancer Discov. 2022. PMID: 34921008 Free PMC article. Review.