BRIEF REPORT Patients With Fanconi Anemia and AML Have Different Cytogenetic Clones Than De Novo Cases of AML

had adequate cytogenetic studies. Although more CCG than literature subjects had karyotypes documented (P < 0.001), the proportions of abnormal karyotypes were similar, 87% in the FA AML literature, and 78% in the CCG group (P ¼ 0.2). The FA cases were older than the de novo patients at diagnosis of AML, median 14 years, range 0.5–20, compared with a median of 9 years, range 0–20.9 (P < 0.001). The ratio of males to females was similar, 1.4:1 and 1.1:1 respectively. In eight of the 46 FA literature cases, the AML clone was first noted in a ‘‘preleukemic’’ phase (not otherwise described). Chromosomes 1, 3, and 7 were more frequently involved in clones in FA AML patients than in de novo AML cases (37%, 19%, and 36% in FA compared with 12%, 6%, and 11% in CCG respectively, P < 0.001). Conversely, chromosomes 8 and 16 (11% and 8%) were exclusively affected in de novo AML patients (P < 0.001), while chromosome 11 was more frequent in the de novo cases. The frequencies of reports of specific clones differed between FA AML and CCG (Table I). Gain of 1q, monosomy 7, and gain of 3q were much more frequent in FA AML (P < 0.001), as were deletion 7q, gain of 13q, and deletion 20q (P ¼ 0.02). In contrast, 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. Pediatr Blood Cancer Published 2012. This article is a U.S. Government work and is in the public domain in the USA.