PMID- 9529134
OWN - NLM
STAT- MEDLINE
DCOM- 19980416
LR  - 20190914
IS  - 0887-6924 (Print)
IS  - 0887-6924 (Linking)
VI  - 12
IP  - 3
DP  - 1998 Mar
TI  - Fluorescence in situ hybridization analyses of hematologic malignancies reveal 
      frequent cytogenetically unrecognized 12p rearrangements.
PG  - 390-400
AB  - Thirty-two hematologic malignancies--nine with cytogenetically identified 12p 
      abnormalities and 23 with whole or partial losses of chromosome 12--were selected 
      for fluorescence in situ hybridization (FISH) investigations of 12p. These 
      analyses revealed structural 12p changes, such as translocations, deletions, 
      insertions, inversions and amplification, in 20 cases. ETV6 rearrangements were 
      detected in three acute leukemias. One acute undifferentiated leukemia had 
      t(4;12)(q12;p13) as the sole anomaly. The second case, an acute myeloid leukemia 
      (AML), displayed complex abnormalities involving, among others, chromosomes 9 and 
      12. The third case, also an AML, had an insertion of the distal part of ETV6 into 
      chromosome arm 11q and into multiple ring chromosomes, which also contained 
      chromosome 11 material, resulting in an amplification of a possible fusion gene. 
      The fusion partners in these cases remain to be identified. Thirty-one additional 
      breakpoints on 12p could be characterized in detail. The majority of these breaks 
      were shown to result in interchromosomal rearrangements, possibly indicating the 
      location of hitherto unrecognized genes of importance in the pathogenesis of 
      hematologic malignancies. The FISH analyses disclosed terminal or interstitial 
      12p deletions in 18 cases. Seven myeloid malignancies showed deletions restricted 
      to a region, including ETV6 and CDKN1B, which has been reported to be frequently 
      lost in leukemias. In four cases, the deletions involved both these genes, 
      whereas two AML displayed loss of CDKN1B but not ETV6, supporting previously 
      reported findings indicating a region of deletion not including this gene. 
      However, one myelodysplastic syndrome lacked one copy of ETV6 but not CDKN1B. 
      Hence, we suggest a minimal region of deletion on 12p located between the ETV6 
      and CDKN1B genes.
FAU - Andreasson, P
AU  - Andreasson P
AD  - Department of Clinical Genetics, Lund University Hospital, Sweden.
FAU - Johansson, B
AU  - Johansson B
FAU - Billstrom, R
AU  - Billstrom R
FAU - Garwicz, S
AU  - Garwicz S
FAU - Mitelman, F
AU  - Mitelman F
FAU - Hoglund, M
AU  - Hoglund M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Leukemia
JT  - Leukemia
JID - 8704895
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - *Chromosome Aberrations
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 12
MH  - Female
MH  - Gene Deletion
MH  - Gene Rearrangement
MH  - Genetic Markers
MH  - Hematologic Neoplasms/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia/*genetics
MH  - Lymphoma, Non-Hodgkin/genetics
MH  - Male
MH  - Middle Aged
MH  - Polycythemia Vera/genetics
EDAT- 1998/04/07 00:00
MHDA- 1998/04/07 00:01
CRDT- 1998/04/07 00:00
PHST- 1998/04/07 00:00 [pubmed]
PHST- 1998/04/07 00:01 [medline]
PHST- 1998/04/07 00:00 [entrez]
AID - 10.1038/sj.leu.2400929 [doi]
PST - ppublish
SO  - Leukemia. 1998 Mar;12(3):390-400. doi: 10.1038/sj.leu.2400929.