FISH analysis reveals frequent co-occurrence of 4q24/ TET2 and 5q and/or 7q deletions

• Published in: Leukemia research 2012-01, Vol.36 (1), p.37-41
• Main Authors: La Starza, Roberta, Crescenzi, Barbara, Nofrini, Valeria, Barba, Gianluca, Matteucci, Caterina, Brandimarte, Lucia, Pierini, Valentina, Testoni, Nicoletta, Musto, Pellegrino, Paolini, Stefania, Gianfelici, Valentina, Storlazzi, Clelia T, Pierini, Antonio, Berchicci, Laura, Gorello, Paolo, Mecucci, Cristina
• Format: Article
• Language: English
• Subjects: 5q; 7/7q; Aged; Aged, 80 and over; Child; Chromosome Deletion; Chromosomes, Human, Pair 4 - genetics; Chromosomes, Human, Pair 5 - genetics; Chromosomes, Human, Pair 7 - genetics; Data Interpretation, Statistical; Del(q24); DNA-Binding Proteins - genetics; Female; Hematologic Neoplasms - epidemiology; Hematologic Neoplasms - genetics; Hematology, Oncology and Palliative Medicine; Humans; In Situ Hybridization, Fluorescence - statistics & numerical data; Karyotyping; Male; Middle Aged; Mutation Rate; Proto-Oncogene Proteins - genetics; TET2 gene
• ISSN: 0145-2126; 1873-5835
• DOI: 10.1016/j.leukres.2011.08.004

Abstract We investigated TET2 deletion in 418 patients with hematological malignancies. Overall interphase FISH detected complete or partial TET2 monoallelic deletion ( TET2del ) in 20/418 cases (4.7%). TET2del was very rare in lymphoid malignancies (1/242 cases; 0.4%). Among 19 positive myeloid malignancies TET2del was associated with a 4q24 karyotypic abnormality in 18 cases. In AML, TET2del occurred in CD34-positive hematopoietic precursors and preceded established genomic abnormalities, such as 5q− and −7/7q−, which were the most frequent associated changes (Fisher's exact test P = 0.000).