PMID- 26763368
OWN - NLM
STAT- MEDLINE
DCOM- 20161013
LR  - 20190604
IS  - 1880-9952 (Electronic)
IS  - 1346-4280 (Linking)
VI  - 55
IP  - 3
DP  - 2015
TI  - Coexistent t(8;21)(q22;q22) Translocation and 5q Deletion in Acute Myeloid 
      Leukemia.
PG  - 181-5
LID - 10.3960/jslrt.55.181 [doi]
AB  - The t(8;21)(q22;q22) translocation is specifically observed in acute myeloid 
      leukemia (AML) M2 subtype, whereas del(5q) is one of the most common cytogenetic 
      aberrations in myelodysplastic syndromes (MDS). Thus, t(8;21)(q22;q22) and 
      del(5q) appear to be mutually exclusive, and the association between them has not 
      been characterized yet. Here, we report an 81-year-old woman with coexistent 
      t(8;21)(q22;q22) and del(5q) at initial diagnosis. The bone marrow was 
      infiltrated with 18.4% myeloblasts, and showed marked myeloid and erythroid 
      dysplasia. Myeloblasts were positive for CD19 and CD56 as well as CD13, CD33, 
      CD34 and HLA-DR. G-banding and spectral karyotyping showed 
      46,XX,del(5)(q?),t(8;21)(q22;q22)[18]/46,XX[2]. Both del(5)(q?) and 
      t(8;21)(q22;q22) were present in a single clone. Fluorescence in situ 
      hybridization (FISH) on metaphase spreads detected a RUNX1/RUNX1T1 fusion signal 
      on the der(8)t(8;21)(q22;q22), and confirmed deletion of CSF1R signaling at 
      5q33-q34 on the del(5)(q?). Furthermore, FISH on interphase nuclei revealed that 
      the RUNX1/RUNX1T1 fusion signal and deletion of CSF1R signaling were found in 
      66.0% and 58.0% of interphase cells, respectively, suggesting that del(5)(q?) 
      occurred in cells with RUNX1/RUNX1T1. These results indicated a diagnosis of AML 
      with t(8;21)(q22;q22)/RUNX1/RUNX1T1 rather than MDS, even though the percentage 
      of bone marrow myeloblasts was less than 20%. Based on these findings, together 
      with those of other reported cases, del(5q) seems to be an extremely rare but 
      recurrent secondary aberration in AML with t(8;21)(q22;q22).
FAU - Yamamoto, Katsuya
AU  - Yamamoto K
FAU - Yakushijin, Kimikazu
AU  - Yakushijin K
FAU - Sanada, Yukinari
AU  - Sanada Y
FAU - Kawamoto, Shinichiro
AU  - Kawamoto S
FAU - Matsuoka, Hiroshi
AU  - Matsuoka H
FAU - Minami, Hironobu
AU  - Minami H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Japan
TA  - J Clin Exp Hematop
JT  - Journal of clinical and experimental hematopathology : JCEH
JID - 101141257
SB  - IM
MH  - Bone Marrow/metabolism/pathology
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 21
MH  - *Chromosomes, Human, Pair 5
MH  - *Chromosomes, Human, Pair 8
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*diagnosis/*genetics
MH  - *Translocation, Genetic
EDAT- 2016/01/15 06:00
MHDA- 2016/10/14 06:00
CRDT- 2016/01/15 06:00
PHST- 2016/01/15 06:00 [entrez]
PHST- 2016/01/15 06:00 [pubmed]
PHST- 2016/10/14 06:00 [medline]
AID - 10.3960/jslrt.55.181 [doi]
PST - ppublish
SO  - J Clin Exp Hematop. 2015;55(3):181-5. doi: 10.3960/jslrt.55.181.