A 31-yr-old female with congenital hypoplastic anemia (Diamond-Blackfan syndrome) whose long course terminated in acute myelogenous leukemia is described. In contrast to Fanconi anemia, malignant transformation rarely occurs in congenital hypoplastic anemia. This patient's diagnosis of congenital hypoplastic anemia is supported by her clinical course, absence of renal abnormalities, a negative ...

mTOR is a serine/threonine kinase and plays a critical role in mammalian cell growth, survival, and metabolism. mTOR is present in two cellular complexes: mTORC1 and mTORC2. Dysregulation of the mTOR pathway has been related to tumorigenesis, poor prognosis and/or chemotherapy resistance in a variety of malignancies. Inhibition of mTORC1 by Rapamycin and its analogs has been explored to treat a...

fanconi syndrome was first described in 1927 by g.fanconi. fanconi syndrome with congenital aplastic anemia is a hereditary disorder in which peripheral blood pancytopenia and bone marrow hypoplasiais often associated with multiple somatic congenital malformations such as microcephaly, skeletal anomalies (absence or hypoplasia of radial or thumb or both of them), brown hyperpigmentation of the ...

In a field that embraces multiple aspects of both clinical and basic research and that moves impressively fast, any answers to the questions why, what and how can we learn from a rare disease like Fanconi anemia (FA) must remain tentative and preliminary. However, there are very encouraging advances, most notably at the level of understanding the molecular basis of FA and at the level of treatm...

The main feature of Fanconi anemia (FA) is the high sensitivity of the cells to the clastogenic agent, diepoxybutane (DEB). Thus, differential diagnosis of this syndrome can be made by cytogenetic analysis; adding DEB to lymphocytes in culture (DEB test) increases the number of chromosome breaks. Fanconi anemia cells have an abnormal cell cycle, with an increased frequency of cells arrested at ...

This chapter describes the clinical presentation and molecular basis of two inherited bone marrow failure syndromes, Fanconi anemia (FA), and Diamond-Blackfan anemia (DBA). It also provides an update on diagnostic and therapeutic approaches to bone marrow failure of all types (inherited and acquired) in pediatric patients. In Section I, Dr. Alan D'Andrea reviews the wide range of clinical manif...

A potential therapeutic option for patients with Fanconi anemia is collection of peripheral blood stem cells prior to the development of severe pancytopenia. These hematopoietic cells potentially could be infused when symptomatic bone marrow failure develops, as autologous rescue after chemotherapy in the event of leukemic transformation, or as targets for gene therapy. Eight patients with Fanc...

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 ...