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Fanconi anaemia and leukaemia – clinical and molecular aspects
Author(s) -
Tischkowitz Marc,
Dokal Inderjeet
Publication year - 2004
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2004.05023.x
Subject(s) - fanconi anemia , context (archaeology) , myeloid leukaemia , chromosome instability , biology , haematopoiesis , phenotype , dna repair , cancer research , bone marrow failure , myeloid , gene , genetics , medicine , immunology , bioinformatics , stem cell , chromosome , paleontology
Summary Fanconi anaemia (FA) is an autosomal recessive chromosomal instability disorder, which is characterized by congenital abnormalities, defective haemopoiesis and a high risk of developing acute myeloid leukaemia and certain solid tumours. It can be caused by mutations in at least eight different genes. Molecular studies have established that a common pathway exists, both between the FA proteins and other proteins involved in DNA damage repair such as NBS1, ATM, BRCA1 and BRCA2. This review summarizes the general clinical and specific haematological features and the current management of FA. Recent molecular advances will also be discussed in the context of the cellular and clinical FA phenotype, with particular emphasis on the haematological aspects of the condition.