PMID- 24729385
OWN - NLM
STAT- MEDLINE
DCOM- 20141219
LR  - 20140611
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 53
IP  - 8
DP  - 2014 Aug
TI  - 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV 
      genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.
PG  - 657-66
LID - 10.1002/gcc.22176 [doi]
AB  - 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.
CI  - (c) 2014 Wiley Periodicals, Inc.
FAU - Cosson, Adrien
AU  - Cosson A
AD  - INSERM U872, Centre de Recherche des Cordeliers, Paris 6, France.
FAU - Chapiro, Elise
AU  - Chapiro E
FAU - Belhouachi, Nabila
AU  - Belhouachi N
FAU - Cung, Hong-Anh
AU  - Cung HA
FAU - Keren, Boris
AU  - Keren B
FAU - Damm, Frederik
AU  - Damm F
FAU - Algrin, Caroline
AU  - Algrin C
FAU - Lefebvre, Christine
AU  - Lefebvre C
FAU - Fert-Ferrer, Sandra
AU  - Fert-Ferrer S
FAU - Luquet, Isabelle
AU  - Luquet I
FAU - Gachard, Nathalie
AU  - Gachard N
FAU - Mugneret, Francine
AU  - Mugneret F
FAU - Terre, Christine
AU  - Terre C
FAU - Collonge-Rame, Marie-Agnes
AU  - Collonge-Rame MA
FAU - Michaux, Lucienne
AU  - Michaux L
FAU - Rafdord-Weiss, Isabelle
AU  - Rafdord-Weiss I
FAU - Talmant, Pascaline
AU  - Talmant P
FAU - Veronese, Lauren
AU  - Veronese L
FAU - Nadal, Nathalie
AU  - Nadal N
FAU - Struski, Stephanie
AU  - Struski S
FAU - Barin, Carole
AU  - Barin C
FAU - Helias, Catherine
AU  - Helias C
FAU - Lafage, Marina
AU  - Lafage M
FAU - Lippert, Eric
AU  - Lippert E
FAU - Auger, Nathalie
AU  - Auger N
FAU - Eclache, Virginie
AU  - Eclache V
FAU - Roos-Weil, Damien
AU  - Roos-Weil D
FAU - Leblond, Veronique
AU  - Leblond V
FAU - Settegrana, Catherine
AU  - Settegrana C
FAU - Maloum, Karim
AU  - Maloum K
FAU - Davi, Frederic
AU  - Davi F
FAU - Merle-Beral, Helene
AU  - Merle-Beral H
FAU - Lesty, Claude
AU  - Lesty C
FAU - Nguyen-Khac, Florence
AU  - Nguyen-Khac F
CN  - Groupe Francophone de Cytogenetique Hematologique
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140412
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Immunoglobulin Heavy Chains)
RN  - 0 (Immunoglobulin Variable Region)
RN  - 0 (NOTCH1 protein, human)
RN  - 0 (Receptor, Notch1)
RN  - Chromosome 12, trisomy 12q
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Chromosomes, Human, Pair 12/genetics
MH  - Chromosomes, Human, Pair 14/*genetics
MH  - Female
MH  - Humans
MH  - Immunoglobulin Heavy Chains/*genetics
MH  - Immunoglobulin Variable Region/*genetics
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Receptor, Notch1/*genetics
MH  - Trisomy/*genetics
EDAT- 2014/04/15 06:00
MHDA- 2014/12/20 06:00
CRDT- 2014/04/15 06:00
PHST- 2013/12/23 00:00 [received]
PHST- 2014/04/01 00:00 [accepted]
PHST- 2014/04/15 06:00 [entrez]
PHST- 2014/04/15 06:00 [pubmed]
PHST- 2014/12/20 06:00 [medline]
AID - 10.1002/gcc.22176 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2014 Aug;53(8):657-66. doi: 10.1002/gcc.22176. Epub 
      2014 Apr 12.