Title: Leukemic recombinations involving heterochromatin in myeloproliferative disorders with t(1;9)
Authors: Sambani, Constantina ×
La Starza, Roberta
Pierini, Valentina
Vandenberghe, Peter
Gonzales-Aguilera, Juan J
Rigana, Helen
Koumbi, Daphne
Manola, Kalliopi N
Stavropoulou, Chryssa
Georgakakos, Vasileios N
Pagoni, Maria
Wlodarska, Iwona
Mecucci, Cristina #
Issue Date: Sep-2005
Series Title: Cancer genetics and cytogenetics. vol:162 issue:1 pages:45-9
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.
ISSN: 0165-4608
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Laboratory for Genetics of Malignant Disorders
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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