PMID- 29672642
OWN - NLM
STAT- MEDLINE
DCOM- 20180723
LR  - 20181114
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 13
IP  - 4
DP  - 2018
TI  - RUNX1-PDCD6 fusion resulting from a novel t(5;21)(p15;q22) chromosome 
      translocation in myelodysplastic syndrome secondary to chronic lymphocytic 
      leukemia.
PG  - e0196181
LID - 10.1371/journal.pone.0196181 [doi]
LID - e0196181
AB  - Leukemic cells often carry chromosome aberrations which generate chimeric genes 
      of pathogenetic, diagnostic, and prognostic importance. New rearrangements giving 
      rise to novel fusion genes define hitherto unrecognized genetic leukemia 
      subgroups. G-banding, fluorescence in situ hybridization (FISH), and molecular 
      genetic analyses were done on bone marrow cells from a patient with chronic 
      lymphocytic leukemia (CLL) and secondary myelodysplasia. The G-banding analysis 
      revealed the karyotype 46,XX,del(21)(q22)[9]/46,XX[2]. FISH on metaphase spreads 
      with a RUNX1 break apart probe demonstrated that part of RUNX1 (from 21q22) had 
      moved to chromosome band 5p15. RNA sequencing showed in-frame fusion of RUNX1 
      with PDCD6 (from 5p15), something that was verified by RT-PCR together with 
      Sanger sequencing. Further FISH analyses with PDCD6 and RUNX1 home-made break 
      apart/double fusion probes showed a red signal (PDCD6) on chromosome 5, a green 
      signal on chromosome 21 (RUNX1), and two yellow fusion signals, one on der(5) and 
      the other on der(21). Reassessment of the G-banding preparations in light of the 
      FISH and RNA-sequencing data thus yielded the karyotype 
      46,XX,t(5;21)(p15;q22)[9]/46,XX[2]. The t(5;21)(p15;q22)/RUNX1-PDCD6 was detected 
      only by performing molecular studies of the leukemic cells, but should be sought 
      after also in other leukemic/myelodysplastic cases with del(21q).
FAU - Panagopoulos, Ioannis
AU  - Panagopoulos I
AUID- ORCID: 0000-0003-2159-5341
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Gorunova, Ludmila
AU  - Gorunova L
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Jacobsen, Eva-Marie
AU  - Jacobsen EM
AD  - Department of Haematology, Oslo University Hospital, Oslo, Norway.
FAU - Andersen, Kristin
AU  - Andersen K
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Micci, Francesca
AU  - Micci F
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
FAU - Heim, Sverre
AU  - Heim S
AD  - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, 
      The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
AD  - Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, 
      Norway.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20180419
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
RN  - 0 (Apoptosis Regulatory Proteins)
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (PDCD6 protein, human)
RN  - 0 (RUNX1 protein, human)
SB  - IM
MH  - Amino Acid Sequence
MH  - Apoptosis Regulatory Proteins/*genetics
MH  - Calcium-Binding Proteins/*genetics
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 21
MH  - Chromosomes, Human, Pair 5
MH  - Core Binding Factor Alpha 2 Subunit/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics/*pathology
MH  - Middle Aged
MH  - Myelodysplastic Syndromes/diagnosis/*etiology
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Sequence Analysis, DNA
MH  - *Translocation, Genetic
PMC - PMC5908135
COIS- Competing Interests: The authors have declared that no competing interests exist.
EDAT- 2018/04/20 06:00
MHDA- 2018/07/24 06:00
PMCR- 2018/04/19
CRDT- 2018/04/20 06:00
PHST- 2018/01/15 00:00 [received]
PHST- 2018/04/06 00:00 [accepted]
PHST- 2018/04/20 06:00 [entrez]
PHST- 2018/04/20 06:00 [pubmed]
PHST- 2018/07/24 06:00 [medline]
PHST- 2018/04/19 00:00 [pmc-release]
AID - PONE-D-18-01439 [pii]
AID - 10.1371/journal.pone.0196181 [doi]
PST - epublish
SO  - PLoS One. 2018 Apr 19;13(4):e0196181. doi: 10.1371/journal.pone.0196181. 
      eCollection 2018.