Characterization of an acquired jumping translocation involving 3q13.31-qter in a patient with de novo acute monocytic leukemia.

We studied an adult with de novo acute monocytic leukemia and a dismal outcome where her leukemic cells harbored an acquired rare jumping translocation (JT). We used oligo-based array CGH (oaCGH) analysis, fluorescence in situ hybridization (FISH), and 24-color karyotyping to enhance the characterization of the JT. G-banding detected a JT involving the 3q13.3-qter chromosomal segment and the recipient chromosomal regions 17p, 8q, and 15q. Each clone with JT was associated with trisomy 8. oaCGH analysis revealed an additional submicroscopic deletion in 3q13.31 as well as small subtelomeric duplications on several chromosomes. Locus-specific FISH with BAC-based probes from the 3q13.31-q13.32 region showed great heterogeneity. Telomere FISH revealed significantly reduced telomeric content in the aberrant cells with JT compared with cytogenetically normal cells at diagnosis and in normal cells at complete remission. A literature search revealed two previous de novo AML-M5 cases of JT involving the 3q13.3-qter chromosomal segment and concomitant trisomy 8. In addition, a case with an unbalanced der(Y)t(Y;3)(q12;q13.31) and additional trisomy 8 was previously reported in a patient with de novo AML-M5. All of these cases had a dismal outcome. In the present case, and in the der(Y)t(Y;3) case, a concurrent submicroscopic deletion at 3q13.31 was observed affecting the TUSC7 gene. Duplication of 3q13.31-qter might be a non-random chromosomal abnormality with concomitant submicroscopic deletion at 3q13.31 occurring in rare cases of acute monocytic leukemia, being associated with adverse prognosis. The impact of shortened telomeres in forming the JT is reviewed.