Author/Authors :
Sambani، نويسنده , , Constantina and La Starza، نويسنده , , Roberta and Pierini، نويسنده , , Valentina and Vandenberghe، نويسنده , , Peter and Gonzales-Aguilera، نويسنده , , Juan J. and Rigana، نويسنده , , Helen and Koumbi، نويسنده , , Daphne and Manola، نويسنده , , Kalliopi N. and Stavropoulou، نويسنده , , Chryssa and Georgakakos، نويسنده , , Vasileios N. and Pagoni، نويسنده , , Mari، نويسنده ,
Abstract :
The unbalanced t(1;9) is a rare, recurrent rearrangement in polycythemia vera (PV) resulting in trisomy of both 1q and 9p arms, whereas a balanced t(1;9)(q12;q12), to our knowledge, has never been reported before. We studied two patients with PV and one with idiopathic myelofibrosis bearing an unbalanced t(1;9) and one patient with essential thrombocythemia with a balanced t(1;9). In all cases fluorescence in situ hybridization showed that the breakpoints were located within the satellite II family of heterochromatin of chromosome 1 and the satellite III of chromosome 9. Heterochromatin breakage and reunion produce the unbalanced t(1;9) and may contribute to a gene dosage effect due to gains of 1q and 9p. Case 4 with the balanced t(1;9), however, suggests that translocation of heterochromatin close to critical genes could interfere with their function. The molecular event underlying juxtaposition of satellite II of chromosome 1 and the satellite III of chromosome 9 remains to be elucidated.
