The natural history of Fanconi anemia remains hard to establish because of its rarity and its heterogeneous clinical presentation; since 1994, the Italian Fanconi Anemia Registry has collected clinical, epidemiological and genetic data of Italian Fanconi Anemia patients. This registry includes 180 patients with a confirmed diagnosis of Fanconi anemia who have either been enrolled prospectively,...

BACKGROUND Effects of different sources of medical uncertainty on people's health-related cognitions, emotions, and decision making have yet to be systematically examined. PURPOSE The aim of this study is to examine how uncertainties arising from different sources are associated with decision making regarding stem cell transplantation in Fanconi anemia, a rare, inherited bone marrow failure s...

OBJECTIVES/HYPOTHESIS To describe the management and outcomes of Fanconi anemia (FA) patients with head and neck squamous cell carcinoma. STUDY DESIGN Cohort study. METHODS Demographic information, prognostic factors, therapeutic management, and survival outcomes for FA patients enrolled in the International Fanconi Anemia Registry who developed head and neck squamous cell carcinoma (HNSCC)...

Fanconi anemia (FA) is a rare autosomal recessive inherited syndrome characterized by chromosomal instability, aplastic and cancer predisposition, accompanied congenital anomalies. In these patients, the probability of tumor development in head neck region higher than normal population. A patient with fanconi was admitted to our clinic due painful lesions oral cavity. brush biopsy taken from re...

introduction: allogeneic hematopoietic cell transplantation (hsct) is the only therapeutic modality capable of correcting the hematologic manifestations of fanconi anemia (fa). the development  of well  tolerated,  immunosuppressive  conditioning  regimens  for fa patients  undergoing hsct has proven to be a rather challenging task for hematologists. methods: we analyzed the outcome of 30 fa pa...

PURPOSE BRCA2, FANCC, and FANCG gene mutations are present in a subset of pancreatic cancer. Defects in these genes could lead to hypersensitivity to interstrand cross-linkers in vivo and a more optimal treatment of pancreatic cancer patients based on the genetic profile of the tumor. EXPERIMENTAL DESIGN Two retrovirally complemented pancreatic cancer cell lines having defects in the Fanconi ...

GC, Grompe M: Germ cell defects and hematopoietic sensitivity to 11. Poot M, Gross O, Epe B, Pflaum M, Hoehn H: Cell cycle g-interferon in mice with a targeted disruption of the Fanconi anemia defect in connection with oxygen and iron sensitivity in Fanconi C gene. Blood 88:49, 1996 anemia lymphoblastoid cells. Exp Cell Res 222:262, 1996 2. Saito H, Hammond AT, Moses RE: Hypersensitivity to oxy...

Fanconi anemia is an inherited disease characterized by bone marrow failure, congenital malformations, and predisposition to cancer. The breast cancer susceptibility gene BRCA2 was recently found to be associated with Fanconi anemia complementation group D1 (FA-D1). We examined four kindreds afflicted with Fanconi anemia for the presence of germline BRCA2 mutations. One kindred, of Ashkenazi Je...

BACKGROUND Fanconi anemia is one of the best studied inherited cancer-prone diseases. Greatly improved protocols for hematopoietic stem cell transplantation increasingly save the lives of these young patients. However, in both transplanted and not transplanted patients, the emergence of aggressive squamous cell carcinoma represents a major medical challenge. CONCLUSIONS This mini review summa...

INTRODUCTION Fanconi anemia is a rare genetic disease linked to bone marrow failure; a possible treatment is hematopoietic stem cell transplantation. Changes in the nutritional status of Fanconi anemia patients are not very well known. This study aimed to characterize body composition of adult, children and adolescent patients with Fanconi anemia who were submitted to hematopoietic stem cell tr...