Clonal Chromosomal Abnormalities in Fanconi's Anaemia: What Do They Really Mean?
Overview
Affiliations
Patients with Fanconi's anaemia (FA) have aplastic anaemia, leukaemia, myelodysplasia and tumours. Since leukaemia has a very poor prognosis, it is desirable to identify high-risk patients. To determine the significance of clonal marrow chromosomal abnormalities we began a prospective study in 17 patients: five were normal, eight aplastic, and four myelodysplastic. Three of 11 with adequate cytogenetics had transient abnormal clones. None had leukaemia at 3-24 months. Changing cytogenetic patterns may not be related to leukaemic evolution in patients with a DNA repair defect.
Longitudinal clinical manifestations of Fanconi anemia: A systematized review.
Hoover A, Turcotte L, Phelan R, Barbus C, Rayannavar A, Miller B Blood Rev. 2024; 68:101225.
PMID: 39107201 PMC: 11568946. DOI: 10.1016/j.blre.2024.101225.
Ayas M, Saber W, Davies S, Harris R, Hale G, Socie G J Clin Oncol. 2013; 31(13):1669-76.
PMID: 23547077 PMC: 3635221. DOI: 10.1200/JCO.2012.45.9719.
Meyer S, Neitzel H, Tonnies H Anemia. 2012; 2012:349837.
PMID: 22675616 PMC: 3366199. DOI: 10.1155/2012/349837.
Mozdarani H, Ashtiani K, Mohseni-Meybodi A Indian J Hum Genet. 2012; 17(3):145-51.
PMID: 22345984 PMC: 3276981. DOI: 10.4103/0971-6866.92088.
Cioc A, Wagner J, MacMillan M, DeFor T, Hirsch B Am J Clin Pathol. 2009; 133(1):92-100.
PMID: 20023263 PMC: 5467447. DOI: 10.1309/AJCP7W9VMJENZOVG.