Schroeder-Kurth TM, Auerbach AD, Obe G (1989) Fanconi Anemia. Clinical, Cytogenetic and Experimental Aspects. Berlin, Germany, Springer Verlag Alter BP (1994) Clinical features of Fanconi anaemia. In: Young NS, Alter BP (eds) Aplastic Anaemia: Acquired and Inherited. W.B. Saunders, Philadelphia, pp 275-308 Auerbach AD, Buchwald M, Joenje H (2003) Fanconi anaemia. In: Vogelstein B, Kinzler KW (e...

What is it? Fanconi anemia (FA) is an autosomal recessive human disease characterized by congenital malformations, bone marrow failure and cancer. FA patients often develop leukemia and/or squamous cell carcinomas of the head and neck or gynecologic system. FA cells are hypersensitive to DNA crosslinking agents, such as mitomycin C (MMC) or diepoxybutane (DEB), and the syndrome is believed to r...

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...

Fanconi anemia (FA) is an inherited chromosomal recessive syndrome characterized by cellular hypersensitivity to DNA crosslinking agents and bone marrow failure, which cause aplastic anemia, and an increased incidence of malignancy. 13 complementation groups are currently discovered, and 13 distinct genes have been cloned (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FNACI, FANCJ, ...

Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...

1. Rathbun RK, Christianson TA, Faulkner GR, et al. Interferon-g-induced apoptotic responses of Fanconi anemia group C hematopoietic progenitor cells involve caspase 8-dependent activation of caspase 3 family members. Blood. 2000;96:4204-4211. 2. Rathbun RK, Faulkner GR, Ostroski MH, et al. Inactivation of the Fanconi anemia group C (FAC) gene augments interferon-gamma-induced apoptotic respons...

1. Rathbun RK, Christianson TA, Faulkner GR, et al. Interferon-g-induced apoptotic responses of Fanconi anemia group C hematopoietic progenitor cells involve caspase 8-dependent activation of caspase 3 family members. Blood. 2000;96:4204-4211. 2. Rathbun RK, Faulkner GR, Ostroski MH, et al. Inactivation of the Fanconi anemia group C (FAC) gene augments interferon-gamma-induced apoptotic respons...

effects in normal human, Fanconi’s anaemia and xeroderma pigmentosum cells. Br J Cancer 67:1285, 1993 3. Hang B, Yeung AT, Lambert MW: A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A cells. Nuclic Acids Res 21:4187, 1993 4. Yamashita T, Kupfer G, Naf D, Suliman A, Joenje H, Asano S, D’Andrea AD:...

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...

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...