PMID- 22749034
OWN - NLM
STAT- MEDLINE
DCOM- 20120910
LR  - 20211203
IS  - 2210-7762 (Print)
VI  - 205
IP  - 6
DP  - 2012 Jun
TI  - Detection of TET2 abnormalities by fluorescence in situ hybridization in 41 
      patients with myelodysplastic syndrome.
PG  - 285-94
LID - 10.1016/j.cancergen.2012.03.004 [doi]
AB  - TET2 haplo-insufficiency occurs through different molecular mechanisms and is 
      promptly revealed by array comparative genomic hybridization, single nucleotide 
      polymorphism (SNP) array, and next-generation sequencing (NGS). Fluorescence in 
      situ hybridization (FISH) can effectively demonstrate TET2 deletions and is often 
      used to validate molecular results. In the present study 41 MDS patients with and 
      without 4q abnormalities were analyzed with a series of bacterial artificial 
      chromosome (BAC) probes spanning the 4q22.3-q25 region. On conventional 
      cytogenetic (CC) studies, a structural defect of the long arm of chromosome 4 
      (4q) was observed in seven patients. In three, one each with a t(1;4)(p21;q24), 
      an ins(5;4)(q23;q24qter), and a t(4;17)(q31;p13) as the sole chromosomal 
      abnormality, FISH with the RP11-356L5 and RP11-16G16 probes, which cover the TET2 
      locus, produced one signal only. Unexpectedly, this same result was achieved in 3 
      of the remaining 34 patients. Thus, a TET2 deletion was observed in a total of 
      six patients (14.6%). TET2 deletion was not correlated with any particular 
      clinical findings or outcome. These findings demonstrate that 1) FISH is an 
      effective and economical method to reveal cryptic abnormalities of band 4q22-q24 
      resulting in TET2 deletions; 2) in these patients, TET2 deletion is the unifying 
      genetic event; and 3) the different breakpoints within the 4q22-q25 region 
      suggest that deletions are not mediated by repetitive sequences.
CI  - Copyright (c) 2012 Elsevier Inc. All rights reserved.
FAU - Dambruoso, Irene
AU  - Dambruoso I
AD  - Division of Hematology, Fondazione IRCCS Policlinico San Matteo, University of 
      Pavia, Italy. i.dambruoso@smatteo.pv.it
FAU - Boni, Marina
AU  - Boni M
FAU - Rossi, Marianna
AU  - Rossi M
FAU - Zappasodi, Patrizia
AU  - Zappasodi P
FAU - Calvello, Celeste
AU  - Calvello C
FAU - Zappatore, Rita
AU  - Zappatore R
FAU - Cavigliano, Paola Maria
AU  - Cavigliano PM
FAU - Giardini, Ilaria
AU  - Giardini I
FAU - Rocca, Barbara
AU  - Rocca B
FAU - Caresana, Marilena
AU  - Caresana M
FAU - Astori, Cesare
AU  - Astori C
FAU - Cazzola, Mario
AU  - Cazzola M
FAU - Castagnola, Carlo
AU  - Castagnola C
FAU - Bernasconi, Paolo
AU  - Bernasconi P
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - EC 1.13.11.- (Dioxygenases)
RN  - EC 1.13.11.- (TET2 protein, human)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Aneuploidy
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Dioxygenases
MH  - Female
MH  - Haploinsufficiency
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Myelodysplastic Syndromes/*genetics
MH  - Proto-Oncogene Proteins/*genetics
MH  - *Sequence Deletion
MH  - Translocation, Genetic
EDAT- 2012/07/04 06:00
MHDA- 2012/09/11 06:00
CRDT- 2012/07/04 06:00
PHST- 2011/12/19 00:00 [received]
PHST- 2012/03/29 00:00 [revised]
PHST- 2012/03/29 00:00 [accepted]
PHST- 2012/07/04 06:00 [entrez]
PHST- 2012/07/04 06:00 [pubmed]
PHST- 2012/09/11 06:00 [medline]
AID - S2210-7762(12)00100-7 [pii]
AID - 10.1016/j.cancergen.2012.03.004 [doi]
PST - ppublish
SO  - Cancer Genet. 2012 Jun;205(6):285-94. doi: 10.1016/j.cancergen.2012.03.004.