PMID- 34791328
OWN - NLM
STAT- MEDLINE
DCOM- 20220706
LR  - 20220706
IS  - 1943-7730 (Electronic)
IS  - 0007-5027 (Linking)
VI  - 53
IP  - 4
DP  - 2022 Jul 4
TI  - Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 
      Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia.
PG  - e87-e90
LID - 10.1093/labmed/lmab105 [doi]
AB  - The detection of recurrent genetic abnormalities in acute myeloid leukemia (AML), 
      including RUNX1T1/RUNX1 gene fusion, is critical for optimal medical management. 
      Herein, we report a 45 year old woman with newly diagnosed AML and conventional 
      chromosome studies that revealed an apparently balanced t(8;20)(q22;p13) in all 
      20 metaphases analyzed. A RUNX1T1/RUNX1 dual-color dual-fusion fluorescence in 
      situ hybridization (FISH) probe set was subsequently performed and revealed a 
      RUNX1T1/RUNX1 gene fusion. Metaphase FISH studies performed on abnormal 
      metaphases revealed a cryptic, complex translocation resulting in RUNX1T1/RUNX1 
      fusion, t(8;20;21)(q22;p13;q22). This case study shows the importance of 
      performing FISH studies or other high-resolution genetic testing concurrently 
      with conventional chromosome studies for the detection of cryptic recurrent gene 
      fusions in AML, particularly a focused genetic evaluation such as RUNX1T1/RUNX1 
      gene fusion, when specific abnormalities involving 8q22 are identified.
CI  - (c) American Society for Clinical Pathology, 2021. All rights reserved. For 
      permissions, please e-mail: journals.permissions@oup.com.
FAU - Macke, Erica L
AU  - Macke EL
AD  - Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, US.
FAU - Meyer, Reid G
AU  - Meyer RG
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota, US.
FAU - Hoppman, Nicole L
AU  - Hoppman NL
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota, US.
FAU - Ketterling, Rhett P
AU  - Ketterling RP
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota, US.
FAU - Greipp, Patricia T
AU  - Greipp PT
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota, US.
FAU - Xu, Xinjie
AU  - Xu X
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota, US.
FAU - Baughn, Linda B
AU  - Baughn LB
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota, US.
FAU - Shafer, Danielle A
AU  - Shafer DA
AD  - Inova Schar Cancer Institute, Inova Fairfax Hospital, Falls Church, Virginia, US.
FAU - He, Rui R
AU  - He RR
AD  - Department of Pathology, Inova Fairfax Hospital, Falls Church, Virginia, US.
FAU - Peterson, Jess F
AU  - Peterson JF
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota, US.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Lab Med
JT  - Laboratory medicine
JID - 0250641
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (RUNX1 Translocation Partner 1 Protein)
RN  - 0 (RUNX1 protein, human)
RN  - 0 (RUNX1T1 protein, human)
SB  - IM
MH  - *Core Binding Factor Alpha 2 Subunit/genetics
MH  - Gene Fusion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Leukemia, Myeloid, Acute/diagnosis/genetics
MH  - RUNX1 Translocation Partner 1 Protein/genetics
MH  - Translocation, Genetic/genetics
OTO - NOTNLM
OT  - RUNX1
OT  - RUNX1T1
OT  - acute myeloid leukemia
OT  - conventional chromosome studies
OT  - cryptic translocation
OT  - fluorescence in situ hybridization
EDAT- 2021/11/19 06:00
MHDA- 2022/07/07 06:00
CRDT- 2021/11/18 07:28
PHST- 2021/11/19 06:00 [pubmed]
PHST- 2022/07/07 06:00 [medline]
PHST- 2021/11/18 07:28 [entrez]
AID - 6430063 [pii]
AID - 10.1093/labmed/lmab105 [doi]
PST - ppublish
SO  - Lab Med. 2022 Jul 4;53(4):e87-e90. doi: 10.1093/labmed/lmab105.