title: Isochromosome 17q in Chronic Lymphocytic Leukemia.
abstract: In chronic lymphocytic leukemia (CLL), presence of acquired cytogenetic abnormalities may help to estimate prognosis. However, deletion of TP53 gene, which is associated with an aggressive course of the disease and poor prognosis along with a lack of response to treatment, is one of the alterations which may escape cytogenetic diagnoses in CLL. Thus, other techniques have emerged such as interphase fluorescence in situ hybridization (iFISH). Deletion of TP53 may but must not go together with the formation of an isochromosome i(17q); surprisingly this subgroup of patients was not in the focus of CLL studies yet. This study was about if presence of i(17q) could be indicative for a new subgroup in CLL with more adverse prognosis. As a result, TP53 deletion was detected in 18 out of 150 (12%) here studied CLL cases. Six of those cases (~33%) had the TP53 deletion accompanied by an i(17q). Interestingly, the cases with i(17q) showed a tendency towards more associated chromosomal aberrations. These findings may be the bases for follow-up studies in CLL patients with TP53 deletion with and without i(17q); it may be suggested that the i(17q) presents an even more adverse prognostic marker than TP53 deletion alone.
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
authors.forename: Eyad
authors.initials: E
authors.lastname: Alhourani
authors.affiliation: Croatian Institute of Brain Research, Salata 12, 1000 Zagreb, Croatia.
authors.forename: Martina
authors.initials: M
authors.lastname: Rincic
authors.affiliation: Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-548 Coimbra, Portugal ; Centro de Investigação em Meio Ambiente, Genética e Oncobiologia (CIMAGO), Polo Ciências da Saúde, 3000-548 Coimbra, Portugal.
authors.forename: Joana B
authors.initials: JB
authors.lastname: Melo
authors.affiliation: Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Polo Ciências da Saúde, 3000-548 Coimbra, Portugal ; Centro de Investigação em Meio Ambiente, Genética e Oncobiologia (CIMAGO), Polo Ciências da Saúde, 3000-548 Coimbra, Portugal.
authors.forename: Isabel M
authors.initials: IM
authors.lastname: Carreira
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
authors.forename: Anita
authors.initials: A
authors.lastname: Glaser
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
authors.forename: Beate
authors.initials: B
authors.lastname: Pohle
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
authors.forename: Cordula
authors.initials: C
authors.lastname: Schlie
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, 07743 Jena, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr