PMID- 10867145
OWN - NLM
STAT- MEDLINE
DCOM- 20000719
LR  - 20231213
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 119
IP  - 2
DP  - 2000 Jun
TI  - Interstitial deletion of the short arm of chromosome 12 during clonal evolution 
      in myelodysplastic syndrome with t(5;12)(q13;p13) involving the ETV6 gene.
PG  - 113-7
AB  - We report here a 65-year-old man with a myelodysplastic syndrome (MDS), 
      refractory anemia with excess of blasts. He had received chemotherapy with 
      tegafur for renal carcinoma. Chromosome analysis of bone marrow cells revealed 
      complex karyotypes; del(5)(q13) was observed in all 20 metaphase spreads, and two 
      related aberrations, add(12)(p11) and add(12)(p13), were detected in 13 and 7 
      cells, respectively. Fluorescence in situ hybridization (FISH) analysis with 
      chromosome-specific DNAs revealed that these alterations originated from a 
      reciprocal translocation (5;12)(q13;p13). Therefore, del(5)(q13), add(12)(p11), 
      and add(12)(p13) were revised as der(5)t(5;12)(q13;p13), 
      der(12)del(12)(p11p13)t(5;12)(q13;p13), and der(12)t(5;12)(q13;p13), 
      respectively. Fluorescence in situ hybridization with a series of cosmid probes 
      spanning the ETV6 gene showed that the 12p13 breakpoint on the 
      der(12)t(5;12)(q13;p13) was located in intron 1, but the exon 1 signal was 
      deleted. Our results suggest that a fusion gene was generated between the 5'-end 
      of an unidentified partner at 5q13 and the 3'-end of ETV6 by t(5;12)(q13;p13), 
      and that the interstitial deletion (12)(p11p13) occurred following t(5;12) during 
      clonal evolution. del(12)(p11p13), including the rearranged ETV6 gene, may be 
      implicated in the progression of MDS.
FAU - Yamamoto, K
AU  - Yamamoto K
AD  - Department of Hematology, Musashino Red Cross Hospital, Musashino, Tokyo, Japan.
FAU - Nagata, K
AU  - Nagata K
FAU - Yagasaki, F
AU  - Yagasaki F
FAU - Tsurukubo, Y
AU  - Tsurukubo Y
FAU - Tamura, A
AU  - Tamura A
FAU - Taniwaki, M
AU  - Taniwaki M
FAU - Hamaguchi, H
AU  - Hamaguchi H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (Repressor Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Aged
MH  - *Chromosome Deletion
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 12/genetics/*ultrastructure
MH  - Chromosomes, Human, Pair 5/genetics/*ultrastructure
MH  - Clone Cells/ultrastructure
MH  - DNA-Binding Proteins/*genetics
MH  - Disease Progression
MH  - Gene Deletion
MH  - Hematologic Neoplasms/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Myelodysplastic Syndromes/*genetics
MH  - Proto-Oncogene Proteins c-ets
MH  - *Repressor Proteins
MH  - Transcription Factors/*genetics
MH  - *Translocation, Genetic
MH  - ETS Translocation Variant 6 Protein
RF  - 15
EDAT- 2000/06/27 11:00
MHDA- 2000/07/25 11:00
CRDT- 2000/06/27 11:00
PHST- 2000/06/27 11:00 [pubmed]
PHST- 2000/07/25 11:00 [medline]
PHST- 2000/06/27 11:00 [entrez]
AID - S0165-4608(99)00227-7 [pii]
AID - 10.1016/s0165-4608(99)00227-7 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2000 Jun;119(2):113-7. doi: 
      10.1016/s0165-4608(99)00227-7.