PMID- 20124335
OWN - NLM
STAT- MEDLINE
DCOM- 20100225
LR  - 20171116
IS  - 1550-8080 (Electronic)
IS  - 0091-7370 (Linking)
VI  - 40
IP  - 1
DP  - 2010 Winter
TI  - Acute myeloid leukemia with del(X)(p21) and cryptic RUNX1/RUNX1T1 from 
      ins(8;21)(q22;q22q22) revealed by atypical FISH signals.
PG  - 80-4
AB  - A 57-yr-old woman was diagnosed with acute myeloid leukemia (AML) with 
      maturation, based on morphological and cytochemical/immunophenotypic findings on 
      bone marrow studies. Conventional cytogenetic analysis using bone marrow cells 
      revealed terminal deletion of the short arm of an X chromosome as 
      46,X,del(X)(p21)[8]/46,XX[12]. On the other hand, fluorescence in situ 
      hybridization (FISH) for the RUNX1/RUNX1T1 (formerly AML1/ETO) rearrangement 
      revealed 86% interphase nuclei with one fusion signal, which was found to be on 
      the long arm of chromosome 8 on metaphase FISH, indicating the RUNX1/RUNX1T1 
      rearrangement by cryptic insertion of the RUNX1 gene. Molecular genetic study by 
      reverse transcriptase polymerase chain reaction (RT-PCR) confirmed the presence 
      of the chimeric transcript. The final karyotype was 46,X,del(X)(p21).ish 
      ins(8;21)(q22;q22q22)(RUNX1T1+,RUNX1+;RU NX1+,RUNX1T1-)[8]/46,XX[12]. In addition 
      to the cryptic RUNX1/RUNX1T1 rearrangement, this is the first report of partial 
      deletion of an X chromosome as an additional cytogenetic aberration in AML with 
      RUNX1/RUNX1T1.
FAU - Jang, Ja-Hyun
AU  - Jang JH
AD  - Department of Laboratory Medicine and Genetics, Samsung Medical Center, 
      Sungkyunkwan University School of Medicine, Seoul, Korea.
FAU - Yoo, Eun-Hyung
AU  - Yoo EH
FAU - Kim, Hee-Jin
AU  - Kim HJ
FAU - Kim, Dong-Hwan
AU  - Kim DH
FAU - Jung, Chul-Won
AU  - Jung CW
FAU - Kim, Sun-Hee
AU  - Kim SH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Ann Clin Lab Sci
JT  - Annals of clinical and laboratory science
JID - 0410247
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (RUNX1 Translocation Partner 1 Protein)
RN  - 0 (RUNX1 protein, human)
RN  - 0 (RUNX1T1 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Chromosomes, Human, X/*genetics
MH  - Core Binding Factor Alpha 2 Subunit/*genetics
MH  - Female
MH  - Flow Cytometry
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/*genetics/pathology/therapy
MH  - Middle Aged
MH  - Proto-Oncogene Proteins/*genetics
MH  - RUNX1 Translocation Partner 1 Protein
MH  - Transcription Factors/*genetics
EDAT- 2010/02/04 06:00
MHDA- 2010/02/26 06:00
CRDT- 2010/02/04 06:00
PHST- 2010/02/04 06:00 [entrez]
PHST- 2010/02/04 06:00 [pubmed]
PHST- 2010/02/26 06:00 [medline]
AID - 40/1/80 [pii]
PST - ppublish
SO  - Ann Clin Lab Sci. 2010 Winter;40(1):80-4.