Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications

Figure 1

FA-associated 3q aberrations. (a) conventional cytogenetics: outcuts of chromosome 2, 3, and 6 showing additional material at 2q, normal chromosomes 3, and an apparent deletion of 6q. (b) the conventional CGH shows a slight deviation at 2q, a gain of 3q25 to 3qter (enh), and a loss of material from 6q23 to 6qter (dim). (c) the FISH with whole chromosome paints wcp3 und wcp6 demonstrates two cell lines: one with material of chromosome 6 translocated to 2q and with material of 3 translocated to 6q; another cell line which carries only the translocation of material of chromosome 3 to 6q. Thus, the apparent deletion detected by conventional cytogenetics proved to be not a sole deletion of 6q but in addition a unbalanced translocation of 3q onto 6q. In addition, the patient had a monosomy 7 (data not shown). The karyotype according to ISCN 2009 in bone marrow cells was 45,XY,-7[2]/45,der(6)(6pter→6q22::3q25→3qter),-7[27]/45,der(2)(2pter→2q37::6q22→6qter),der(6)(6pter→6q22::3q25→3qter),-7[8].