[HTML][HTML] Diagnosis of Fanconi anemia in patients with bone marrow failure
FO Pinto, T Leblanc, D Chamousset, G Le Roux… - …, 2009 - ncbi.nlm.nih.gov
FO Pinto, T Leblanc, D Chamousset, G Le Roux, B Brethon, B Cassinat, J Larghero…
haematologica, 2009•ncbi.nlm.nih.govBackground Patients with bone marrow failure and undiagnosed underlying Fanconi
anemia may experience major toxicity if given standard-dose conditioning regimens for
hematopoietic stem cell transplant. Due to clinical variability and/or potential emergence of
genetic reversion with hematopoietic somatic mosaicism, a straightforward Fanconi anemia
diagnosis can be difficult to make, and diagnostic strategies combining different assays in
addition to classical breakage tests in blood may be needed.
anemia may experience major toxicity if given standard-dose conditioning regimens for
hematopoietic stem cell transplant. Due to clinical variability and/or potential emergence of
genetic reversion with hematopoietic somatic mosaicism, a straightforward Fanconi anemia
diagnosis can be difficult to make, and diagnostic strategies combining different assays in
addition to classical breakage tests in blood may be needed.
Background
Patients with bone marrow failure and undiagnosed underlying Fanconi anemia may experience major toxicity if given standard-dose conditioning regimens for hematopoietic stem cell transplant. Due to clinical variability and/or potential emergence of genetic reversion with hematopoietic somatic mosaicism, a straightforward Fanconi anemia diagnosis can be difficult to make, and diagnostic strategies combining different assays in addition to classical breakage tests in blood may be needed.
ncbi.nlm.nih.gov