PMID- 34771519
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240404
IS  - 2072-6694 (Print)
IS  - 2072-6694 (Electronic)
IS  - 2072-6694 (Linking)
VI  - 13
IP  - 21
DP  - 2021 Oct 26
TI  - CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on 
      Atypical Findings and Their Implications in Clinical Diagnosis and Management.
LID - 10.3390/cancers13215354 [doi]
LID - 5354
AB  - Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a 
      diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their 
      clinical diagnostic implication have not been systemically studied. We studied 
      1629 CBFB FISH cases performed in our institution, 262 (16.1%), 1234 (75.7%), and 
      133 (8.2%) were reported as positive, normal, and abnormal, respectively. The 
      last included CBFB copy number changes (n = 120) and atypical findings such as 
      3'CBFB deletion (n = 11), 5'CBFB deletion (n = 1), and 5'CBFB gain (n = 1). 
      Correlating with CBFB-MYH11 RT-PCR results, totally 271 CBFB rearrangement cases 
      were identified, including five with discrepancies between FISH and RT-PCR due to 
      new partner genes (n = 3), insertion (n = 1), or rare CBFB-MYH11 variant (n = 1) 
      and eight with 3'CBFB deletion. All cases with atypical findings and/or 
      discrepancies presented clinical diagnostic challenges. Correlating FISH signal 
      patterns and karyotypes, additional chromosome 16 aberrations (AC16As) show 
      impacts on the re-definition of a complex karyotype and prognostic prediction. 
      The CBFB rearrangement but not all AC16As will be detected by NGS-based methods. 
      Therefore, FISH testing is currently still needed to provide a quick and 
      straightforward confirmatory inv(16)/t(16;16) AML diagnosis and additional 
      information related to clinical management.
FAU - Yang, Richard K
AU  - Yang RK
AUID- ORCID: 0000-0003-0433-8626
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Toruner, Gokce A
AU  - Toruner GA
AUID- ORCID: 0000-0002-5305-6337
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Wang, Wei
AU  - Wang W
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Fang, Hong
AU  - Fang H
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Issa, Ghayas C
AU  - Issa GC
AUID- ORCID: 0000-0002-4339-8683
AD  - Department of Leukemia, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Wang, Lulu
AU  - Wang L
AD  - Department of Clinical Cancer Prevention, The University of Texas MD Anderson 
      Cancer Center, Houston, TX 77030, USA.
FAU - Quesada, Andres E
AU  - Quesada AE
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Thakral, Beenu
AU  - Thakral B
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Patel, Keyur P
AU  - Patel KP
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Peng, Guang
AU  - Peng G
AD  - Department of Clinical Cancer Prevention, The University of Texas MD Anderson 
      Cancer Center, Houston, TX 77030, USA.
FAU - Liu, Shujuan
AU  - Liu S
AD  - Parkview Regional Medical Center, Allied Hospital Pathologists, Fort Wayne, IN 
      46845, USA.
FAU - Yin, C Cameron
AU  - Yin CC
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Borthakur, Gautam
AU  - Borthakur G
AD  - Department of Leukemia, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Tang, Zhenya
AU  - Tang Z
AUID- ORCID: 0000-0002-8079-9945
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Wang, Sa A
AU  - Wang SA
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Miranda, Roberto N
AU  - Miranda RN
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Khoury, Joseph D
AU  - Khoury JD
AUID- ORCID: 0000-0003-2621-3584
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Medeiros, L Jeffrey
AU  - Medeiros LJ
AUID- ORCID: 0000-0001-6577-8006
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Tang, Guilin
AU  - Tang G
AD  - Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
LA  - eng
PT  - Journal Article
DEP - 20211026
PL  - Switzerland
TA  - Cancers (Basel)
JT  - Cancers
JID - 101526829
PMC - PMC8582369
OTO - NOTNLM
OT  - CBFB rearrangement
OT  - CBFB-MYH11
OT  - FISH
OT  - RT-PCR
OT  - additional chromosome16 aberrations (AC16As)
OT  - atypical findings
OT  - next-generation sequencing (NGS)
COIS- The authors declare no conflict of interest.
EDAT- 2021/11/14 06:00
MHDA- 2021/11/14 06:01
PMCR- 2021/10/26
CRDT- 2021/11/13 01:14
PHST- 2021/10/02 00:00 [received]
PHST- 2021/10/20 00:00 [revised]
PHST- 2021/10/23 00:00 [accepted]
PHST- 2021/11/13 01:14 [entrez]
PHST- 2021/11/14 06:00 [pubmed]
PHST- 2021/11/14 06:01 [medline]
PHST- 2021/10/26 00:00 [pmc-release]
AID - cancers13215354 [pii]
AID - cancers-13-05354 [pii]
AID - 10.3390/cancers13215354 [doi]
PST - epublish
SO  - Cancers (Basel). 2021 Oct 26;13(21):5354. doi: 10.3390/cancers13215354.