PMID- 26509426
OWN - NLM
STAT- MEDLINE
DCOM- 20160205
LR  - 20231213
IS  - 1421-9662 (Electronic)
IS  - 0001-5792 (Linking)
VI  - 135
IP  - 2
DP  - 2016
TI  - Refining the Breakpoints of Three New Translocations Identified in 
      Myelodysplastic Syndromes.
PG  - 94-100
LID - 10.1159/000439161 [doi]
AB  - Recurrent translocations are uncommon in myelodysplastic syndromes (MDS). Three 
      new recurrent translocations, namely der(12)t(3;12)(q13;p13), 
      t(11;13;22)(q13;q14;q12) and der(17)t(13;17)(q21;p13), identified by conventional 
      cytogenetics (CC) in 4 MDS patients, were further characterized using a panel of 
      commercial and homemade fluorescence in situ hybridization (FISH) probes. The 
      goal of this study was to determine the precise breakpoints and to identify genes 
      that could be related with the neoplastic process. Half of the breakpoints (4/8) 
      were precisely identified and in the remaining half they were narrowed to a 
      region ranging from 14 to 926 kb. All the studied breakpoints had interstitial or 
      terminal deletions ranging from 536 kb to 89 Mb, and only those 7 Mb were 
      detected by CC. The genes located in or around the breakpoints described in our 
      study have not been previously related to MDS. The deleted regions include the 
      ETV6 and RB1 genes, among others, and exclude the TP53 gene. FISH studies were 
      useful to refine the breakpoints of the translocations, but further studies are 
      needed to determine the role of the involved genes in the neoplastic process.
CI  - (c) 2015 S. Karger AG, Basel.
FAU - Costa, Dolors
AU  - Costa D
AD  - Unitat d'Hematopatologia, Hospital Clx00ED;nic, Barcelona, Spain.
FAU - Munoz, Concha
AU  - Munoz C
FAU - Carrio, Ana
AU  - Carrio A
FAU - Arias, Amparo
AU  - Arias A
FAU - Gomez, Candida
AU  - Gomez C
FAU - Sole, Francesc
AU  - Sole F
FAU - Espinet, Blanca
AU  - Espinet B
FAU - Azaceta, Gemma
AU  - Azaceta G
FAU - Calasanz, Maria J
AU  - Calasanz MJ
FAU - Nomdedeu, Meritxell
AU  - Nomdedeu M
FAU - Calvo, Xavier
AU  - Calvo X
FAU - Campo, Elias
AU  - Campo E
FAU - Nomdedeu, Benet
AU  - Nomdedeu B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20151028
PL  - Switzerland
TA  - Acta Haematol
JT  - Acta haematologica
JID - 0141053
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (Repressor Proteins)
RN  - 0 (Retinoblastoma Protein)
RN  - 0 (TP53 protein, human)
RN  - 0 (Tumor Suppressor Protein p53)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Chromosome Mapping
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Myelodysplastic Syndromes/*genetics/pathology
MH  - Proto-Oncogene Proteins c-ets/genetics
MH  - Repressor Proteins/genetics
MH  - Retinoblastoma Protein/genetics
MH  - *Translocation, Genetic
MH  - Tumor Suppressor Protein p53/genetics
MH  - ETS Translocation Variant 6 Protein
EDAT- 2015/10/29 06:00
MHDA- 2016/02/06 06:00
CRDT- 2015/10/29 06:00
PHST- 2015/06/02 00:00 [received]
PHST- 2015/08/02 00:00 [accepted]
PHST- 2015/10/29 06:00 [entrez]
PHST- 2015/10/29 06:00 [pubmed]
PHST- 2016/02/06 06:00 [medline]
AID - 000439161 [pii]
AID - 10.1159/000439161 [doi]
PST - ppublish
SO  - Acta Haematol. 2016;135(2):94-100. doi: 10.1159/000439161. Epub 2015 Oct 28.