Two cases of myeloid disorders and a t(8;12)(q12;p13)

Background and Objectives, Rearrangements of the short arm of chromosome 12 have been described in different hematologic malignancies. Some of these a bnormalities showed a rearrangement of the ETV6 gene. We studied the 12p re gion in one case with a t(8;12)(q12;p13) by fluorescence in situ hybridizat ion (FISH). Design and Methods. We have identified a chromosome translocation, t(8;12)( q12;p13) in two patients with myeloid disorders; one with acute myelogenous leukemia (AML) and one with refractory anemia (RA). FISH studies with spec ific probes (cosmids and YACs) for the 12p region were used to investigate one case. Results. FISH studies demonstrated hemizygous loss of the ETV6 and CDKN1B r egions and two copies of the CCDN2 locus, as a result of the balanced trans location and an additional copy of the der(8). Interpretation and Conclusions. Myeloid diseases with t(8;12)(q12;p13) have an interstitial deletion of 12p, including the ETV6 and CDKN1B regions. A duplication of CCDN2 locus can also be found. (C) 2000 Ferrata Storti Found ation.