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Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean?
Author(s) -
Alter Blanche P.,
Scalise Angela,
McCombs Jerome,
Najfeld Vesna
Publication year - 1993
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.1365-2141.1993.tb03362.x
Subject(s) - fanconi anemia , cytogenetics , aplastic anemia , myelodysplastic syndromes , karyotype , bone marrow failure , chromosome instability , premalignant lesion , medicine , bone marrow , biology , chromosome , pathology , oncology , immunology , genetics , haematopoiesis , stem cell , dna repair , cancer , dna , gene
Summary. Patients with Fanconi's anaemia (FA) have aplastic anaemia, leukaemia, myelodysplasia and tumours. Since leukaemia has a very poor prognosis, it is desirable to identify high‐risk patients. To determine the significance of clonal marrow chromosomal abnormalities we began a prospective study in 17 patients: five were normal, eight aplastic, and four myelodysplastic. Three of 11 with adequate cytogenetics had transient abnormal clones. None had leukaemia at 3–24 months. Changing cytogenetic patterns may not be related to leukaemic evolution in patients with a DNA repair defect.