We analyzed the factors and outcome of patients with disseminated adenovirus infection (dAdV) after allogeneic hematopoeitic stem cell transplantation (HSCT). Thirty patients with dAdV were identified among 620 allogeneic HSCT recipients. Primary diseases were leukemia (n=17), Fanconi anemia (n=12) or others (n=1). Source of stem cells was unrelated in 28 and related in 2 patients. The graft co...

Fanconi anemia is a rare autosomal recessive disorder characterized by various congenital malformations, progressive bone marrow failure at a very young age and of solid tumors development. The authors present a rare case of a squamous cell carcinoma of the hard palate in a Fanconi Anaemia patient. The atypical clinical manifestation rendered the diagnosis more difficult. This case, for age of ...

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder defined by cellular hypersensitivity to DNA cross-linking agents; mutations in the gene defective in FA complementation group C, FAC, are responsible for the syndrome in a subset of patients. We have performed an analysis of the clinical effects of specific mutations in the FAC gene. Using the amplification refractor...

After quite some scientific debate over the last decade, it has become evident that chromosomal instability is a major driving force in the pathogenesis of the vast majority of human cancers [1–3]. In addition, different patterns of chromosomal instability appear to have different clinical implications [4,5]. Yet, unlike for the less common form of genomic instability caused by failing DNA mism...

Part of the FA complex with FANCC, FANCE, FANCF, and FANCG; this complex is only found in the nucleus. FANCA and FANCG form a complex in the cytoplasm, through a N-term FANCA (involving the nuclear localization signal) FANCG interaction; FANCC join the complex; phosphorylation of FANCA would induce its translocation into the nucleus.This FA complex translocates into the nucleus, where FANCE and...

PURPOSE Fanconi anemia complementation group F (FANCF) is a key factor to maintaining the function of Fanconi anaemia/BRCA (FA/BRCA) pathway, a DNA-damage response pathway. However, the functional role of FANCF in breast cancer has not been elucidated. In the present study, we evaluated the chemosensitization effect of FANCF in breast cancer cells. METHODS We performed specific knockdown of t...

The flt3 ligand is a growth factor that stimulates the proliferation of hematopoietic progenitor and stem cells. We established a sensitive enzyme-linked immunosorbent assay (ELISA) to measure the concentration of flt3 ligand in plasma or serum from normal individuals, as well as in patients with hematopoietic disorders. Concentrations of flt3 ligand in plasma or serum from normal individuals w...

Abstract Fanconi Anemia (FA) is a rare inherited hematological disease, caused by mutations in genes involved the DNA interstrand crosslink (ICL) repair. Up to date, 22 have been identified that encode series of functionally associated proteins recognize ICL lesion and mediate activation downstream repair pathway including nucleotide excision repair, translesion synthesis, homologous recombinat...