Medline ® Abstract for Reference 88
of 'Clinical manifestations and diagnosis of Fanconi anemia'
Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.
Rochowski A, Olson SB, Alonzo TA, Gerbing RB, Lange BJ, Alter BP
Pediatr Blood Cancer. 2012 Nov;59(5):922-4. Epub 2012 Apr 19.
Specific cytogenetic clones might distinguish patients with unrecognized Fanconi anemia (FA) who present with acute myeloid leukemia (AML) from those with sporadic AML. Cytogenetic reports in literature cases of FA and AML were compared with de novo cases enrolled on CCG-2961. Gain of 1q, gain of 3q, monosomy 7, deleted 7q, gain of 13q, and deleted 20q were more frequent in FA AML; t(8;21), trisomy 8, t(9;11), t(6;9), and inversion 16 were exclusive to de novo AML cases. Observation of the FA AML cytogenetic clonal patterns should raise suspicion of an underlying leukemia predisposition syndrome and influence management.
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20852-7231, USA.