PMID- 24915757
OWN - NLM
STAT- MEDLINE
DCOM- 20150226
LR  - 20161125
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 53
IP  - 9
DP  - 2014 Sep
TI  - Interstitial 13q14 deletions detected in the karyotype and translocations with 
      concomitant deletion at 13q14 in chronic lymphocytic leukemia: different genetic 
      mechanisms but equivalent poorer clinical outcome.
PG  - 788-97
LID - 10.1002/gcc.22188 [doi]
AB  - Deletion of 13q14 as the sole abnormality is a good prognostic marker in chronic 
      lymphocytic leukemia (CLL). Nonetheless, the prognostic value of reciprocal 13q14 
      translocations [t(13q)] with related 13q losses has not been fully elucidated. We 
      described clinical and biological characteristics of 25 CLL patients with t(13q), 
      and compared with 62 patients carrying interstitial del(13q) by conventional 
      G-banding cytogenetics (CGC) [i-del(13q)] and 295 patients with del(13q) only 
      detected by fluorescence in situ hybridization (FISH) [F-del(13q)]. Besides from 
      the CLL FISH panel (D13S319, CEP12, ATM, TP53), we studied RB1 deletions in all 
      t(13q) cases and a representative group of i-del(13q) and F-del(13q). We analyzed 
      NOTCH1, SF3B1, and MYD88 mutations in t(13q) cases by Sanger sequencing. In all, 
      25 distinct t(13q) were described. All these cases showed D13S319 deletion while 
      32% also lost RB1. The median percentage of 13q-deleted nuclei did not differ 
      from i-del(13q) patients (73% vs. 64%), but both were significantly higher than 
      F-del(13q) (52%, P < 0.001). Moreover, t(13q) patients showed an increased 
      incidence of biallelic del(13q) (52% vs. 11.3% and 14.9%, P < 0.001) and higher 
      rates of concomitant 17p deletion (37.5% vs. 8.6% and 7.2%, P < 0.001). RB1 
      involvement was significantly higher in the i-del(13q) group (79%, P < 0.001). 
      Two t(13q) patients (11.8%) carried NOTCH1 mutations. Time to first treatment in 
      t(13q) and i-del(13q) was shorter than F-del(13q) (67, 44, and 137 months, 
      P = 0.029), and preserved significance in the multivariate analysis. In 
      conclusion, t(13q) and del(13q) patients detected by CGC constitute a subgroup 
      within the 13q-deleted CLL patients associated with a worse clinical outcome.
CI  - (c) 2014 Wiley Periodicals, Inc.
FAU - Puiggros, Anna
AU  - Puiggros A
AD  - Laboratori de Citogenetica Molecular, Laboratori de Citologia Hematologica, 
      Servei de Patologia, Hospital del Mar, Barcelona, Spain; Grup de Recerca 
      Translacional en Neoplasies Hematologiques, Cancer Res Program, IMIM-Hospital del 
      Mar, Barcelona, Spain.
FAU - Venturas, Marta
AU  - Venturas M
FAU - Salido, Marta
AU  - Salido M
FAU - Blanco, Gonzalo
AU  - Blanco G
FAU - Fernandez-Rodriguez, Concepcion
AU  - Fernandez-Rodriguez C
FAU - Collado, Rosa
AU  - Collado R
FAU - Valiente, Alberto
AU  - Valiente A
FAU - Ruiz-Xiville, Neus
AU  - Ruiz-Xiville N
FAU - Carrio, Ana
AU  - Carrio A
FAU - Ortuno, Francisco Jose
AU  - Ortuno FJ
FAU - Luno, Elisa
AU  - Luno E
FAU - Calasanz, Maria Jose
AU  - Calasanz MJ
FAU - Ardanaz, Maria Teresa
AU  - Ardanaz MT
FAU - Pinan, Maria Angeles
AU  - Pinan MA
FAU - Talavera, Elisabet
AU  - Talavera E
FAU - Gonzalez, Maria Teresa
AU  - Gonzalez MT
FAU - Ortega, Margarita
AU  - Ortega M
FAU - Marugan, Isabel
AU  - Marugan I
FAU - Ferrer, Ana
AU  - Ferrer A
FAU - Gimeno, Eva
AU  - Gimeno E
FAU - Bellosillo, Beatriz
AU  - Bellosillo B
FAU - Delgado, Julio
AU  - Delgado J
FAU - Hernandez, Jose Angel
AU  - Hernandez JA
FAU - Hernandez-Rivas, Jesus Maria
AU  - Hernandez-Rivas JM
FAU - Espinet, Blanca
AU  - Espinet B
CN  - Grupo Cooperativo Espanol de Citogenetica Hematologica (GCECGH)
CN  - Grupo Espanol de Leucemia Linfatica Cronica (GELLC)
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20140610
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (MYD88 protein, human)
RN  - 0 (Myeloid Differentiation Factor 88)
RN  - 0 (NOTCH1 protein, human)
RN  - 0 (Phosphoproteins)
RN  - 0 (RNA Splicing Factors)
RN  - 0 (Receptor, Notch1)
RN  - 0 (Retinoblastoma Protein)
RN  - 0 (Ribonucleoprotein, U2 Small Nuclear)
RN  - 0 (SF3B1 protein, human)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Cohort Studies
MH  - Female
MH  - Humans
MH  - Karyotype
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*diagnosis/genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Myeloid Differentiation Factor 88/genetics
MH  - Phosphoproteins/genetics
MH  - Prognosis
MH  - RNA Splicing Factors
MH  - Receptor, Notch1/genetics
MH  - Retinoblastoma Protein/genetics
MH  - Ribonucleoprotein, U2 Small Nuclear/genetics
MH  - *Translocation, Genetic
EDAT- 2014/06/12 06:00
MHDA- 2015/02/27 06:00
CRDT- 2014/06/12 06:00
PHST- 2014/02/05 00:00 [received]
PHST- 2014/05/22 00:00 [revised]
PHST- 2014/05/23 00:00 [accepted]
PHST- 2014/06/12 06:00 [entrez]
PHST- 2014/06/12 06:00 [pubmed]
PHST- 2015/02/27 06:00 [medline]
AID - 10.1002/gcc.22188 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2014 Sep;53(9):788-97. doi: 10.1002/gcc.22188. Epub 
      2014 Jun 10.