Biallelic BRCA2 mutations occur in 2% of patients with Fanconi anemia and are associated with a high risk of acute leukemia at an early age and a poor prognosis. For the first time, we report the use of interleukin-2 to stimulate a graft-versus-leukemia effect and induce complete remission in a patient with BRCA2 Fanconi anemia and refractory acute myelogenous leukemia, suggesting the potential...

Risk factors for the development of a new (secondary) malignancy after marrow transplantation are still incompletely defined. In the present study, we analyzed results in 700 patients with severe aplastic anemia treated with allogeneic marrow transplantation at the Fred Hutchinson Cancer Research Center in Seattle, WA, or at the Hôpital St Louis in Paris, France. Twenty-three patients developed...

Pregnancy in patients with Fanconi anemia (FA) is rare. However, there are reports of successful pregnancy in Fanconi patients after bone marrow transplantation (BMT, hematopoietic stem cell transplantation). We describe the case of a term pregnant woman with FA who was treated with BMT 2 years earlier. She underwent successful delivery with cesarean section using spinal anesthesia without any ...

Aplastic anemia may be inherited or acquired. The distinction between these lies not in the age of the patient, but in the clinical and laboratory diagnoses. Adult hematologists must consider adult presentations of the inherited disorders, in order to avoid incorrect management of their patients. Physicians for adult patients must also realize that children with inherited disorders now survive ...

Kutler et al. (1) recently reported that human papillomavirus (HPV) DNA is frequently detected in squamous cell carcinomas (SCCs) of Fanconi anemia patients, who are predisposed to develop cancer at an early age, particularly acute myeloid leukemia and SCCs of the head and neck (HNSCCs) and the anogenital region. Kutler et al. speculated that HPV infection might be critically involved in the pa...

Myelodysplastic and leukemic stem cell clones that evolve in children and adults with Fanconi anemia universally bear complex cytogenetic abnormalities. The abnormalities are generally recurring deletions or chromosomal loss and involve precisely the same chromosomes with the same frequency as has been described in marrow cells from patients with secondary acute leukemia induced by alkylating a...

Background: This study aimed to assess the frequency determination of c.1115_1118delTTGG and c.3788_3790delTCT Fanconi's anemia A gene (FANCA) gene mutation in the North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi’s Anemia Population. Materials and Methods: A cross-sectional study was conducted at Khyber Medical University, Peshawar, Pakistan. For the Exon 13 mutation c.1115_1118delTTGG, the ...

oral surgery in patients with bleeding disorders is associated with a high risk of bleeding during and after surgery. this article is aimed to present the case of an eight-year-old girl suffering from severe fanconi anemia with pancytopenia who underwent a dental extraction. the hemostatic effect of local administration of tranexamic acid in combination with a primary suture seems to be extreme...

Fanconi anemia is characterized by hypersensitivity to DNA interstrand crosslinks (ICLs) and susceptibility to tumor formation. Despite the identification of numerous Fanconi anemia (FANC) genes, the mechanism by which proteins encoded by these genes protect a cell from DNA interstrand crosslinks remains unclear. The recent discovery of two DNA helicases that, when defective, cause Fanconi anem...