Title: 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma
Authors: Cosson, Adrien ×
Chapiro, Elise
Belhouachi, Nabila
Cung, Hong-Anh
Keren, Boris
Damm, Frederik
Algrin, Caroline
Lefebvre, Christine
Fert-Ferrer, Sandra
Luquet, Isabelle
Gachard, Nathalie
Mugneret, Francine
Terre, Christine
Collonge-Rame, Marie-Agnes
Michaux, Lucienne
Rafdord-Weiss, Isabelle
Talmant, Pascaline
Veronese, Lauren
Nadal, Nathalie
Struski, Stephanie
Barin, Carole
Helias, Catherine
Lafage, Marina
Lippert, Eric
Auger, Nathalie
Eclache, Virginie
Roos-Weil, Damien
Leblond, Veronique
Settegrana, Catherine
Maloum, Karim
Davi, Frederic
Merle-Beral, Helene
Lesty, Claude
Nguyen-Khac, Florence
on behalf of the Groupe Francophone de Cytogénétique Hématologique #
Issue Date: Aug-2014
Publisher: Wiley-Liss, Inc.
Series Title: Genes, Chromosomes & Cancer vol:53 issue:8 pages:657-66
Article number: 10.1002/gcc.22176
Abstract: Deletions of the long arm of chromosome 14 [del(14q)] are rare but recurrently observed in mature B-cell neoplasms, particularly in chronic lymphocytic leukemia (CLL). To further characterize this aberration, we studied 81 cases with del(14q): 54 of CLL and 27 of small lymphocytic lymphoma (SLL), the largest reported series to date. Using karyotype and fluorescence in situ hybridization (FISH), the most frequent additional abnormality was trisomy 12 (tri12), observed in 28/79 (35%) cases, followed by del13q14 (12/79, 15%), delTP53 (11/80, 14%) delATM (5/79, 6%), and del6q21 (3/76, 4%). IGHV genes were unmutated in 41/53 (77%) patients, with a high frequency of IGHV1-69 (21/52, 40%). NOTCH1 gene was mutated in 14/45 (31%) patients. There was no significant difference in cytogenetic and molecular abnormalities between CLL and SLL. Investigations using FISH and SNP-array demonstrated the heterogeneous size of the 14q deletions. However, a group with the same del(14)(q24.1q32.33) was identified in 48% of cases. In this group, tri12 (P = 0.004) and NOTCH1 mutations (P = 0.02) were significantly more frequent than in the other patients. In CLL patients with del(14q), median treatment-free survival (TFS) was 27 months. In conclusion, del(14q) is associated with tri12 and with pejorative prognostic factors: unmutated IGHV genes (with over-representation of the IGHV1-69 repertoire), NOTCH1 mutations, and a short TFS. © 2014 Wiley Periodicals, Inc.
ISSN: 1045-2257
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Genetics of Malignant Disorders
× corresponding author
# (joint) last author

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