PMID- 31160360
OWN - NLM
STAT- MEDLINE
DCOM- 20200526
LR  - 20231104
IS  - 2373-2873 (Electronic)
IS  - 2373-2873 (Linking)
VI  - 5
IP  - 3
DP  - 2019 Jun
TI  - Elucidating a false-negative MYC break-apart fluorescence in situ hybridization 
      probe study by next-generation sequencing in a patient with high-grade B-cell 
      lymphoma with IGH/MYC and IGH/BCL2 rearrangements.
LID - 10.1101/mcs.a004077 [doi]
LID - a004077
AB  - The identification of MYC rearrangements in several mature B-cell neoplasms is 
      critical for diagnostic and prognostic purposes. Commercially available 
      fluorescence in situ hybridization (FISH) probe sets, including IGH/MYC 
      dual-color dual-fusion (D-FISH) and MYC break-apart probes (BAPs), serve as the 
      primary methodology utilized to detect MYC rearrangements. However, performing 
      either IGH/MYC D-FISH or MYC BAP FISH studies in isolation has been reported to 
      result in false-negative results because of the complex nature of 8q24 
      rearrangements involving the MYC gene region. We report a 60-yr-old male with 
      newly diagnosed high-grade B-cell lymphoma with a negative MYC BAP study, but 
      with positive BCL2 and BCL6 BAP studies. Per our current laboratory algorithm to 
      concurrently interrogate the MYC gene region with both MYC BAP and IGH/MYC D-FISH 
      probe sets, we performed IGH/MYC D-FISH studies and detected an IGH/MYC fusion. 
      To further characterize the discrepant MYC results obtained by FISH, a 
      next-generation sequencing strategy, mate-pair sequencing (MPseq), was performed 
      and revealed a small insertion ( approximately 200 kb) of the IGH locus downstream from the MYC 
      gene that was undetectable by MYC BAP studies. This case highlights the 
      importance of utilizing both IGH/MYC D-FISH and MYC BAP sets to detect potential 
      cryptic MYC rearrangements and also demonstrates the power of MPseq to 
      characterize complex structural rearrangements and copy-number abnormalities 
      unappreciable by FISH.
CI  - (c) 2019 Peterson et al.; Published by Cold Spring Harbor Laboratory Press.
FAU - Peterson, Jess F
AU  - Peterson JF
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
FAU - Pitel, Beth A
AU  - Pitel BA
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
FAU - Smoley, Stephanie A
AU  - Smoley SA
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
FAU - Vasmatzis, George
AU  - Vasmatzis G
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      Minnesota 55905, USA.
FAU - Smadbeck, James B
AU  - Smadbeck JB
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      Minnesota 55905, USA.
FAU - Greipp, Patricia T
AU  - Greipp PT
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
FAU - Ketterling, Rhett P
AU  - Ketterling RP
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota 55905, USA.
FAU - Macon, William R
AU  - Macon WR
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota 55905, USA.
FAU - Baughn, Linda B
AU  - Baughn LB
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190603
PL  - United States
TA  - Cold Spring Harb Mol Case Stud
JT  - Cold Spring Harbor molecular case studies
JID - 101660017
RN  - 0 (BCL2 protein, human)
RN  - 0 (Immunoglobulin Heavy Chains)
RN  - 0 (MYC protein, human)
RN  - 0 (Proto-Oncogene Proteins c-bcl-2)
RN  - 0 (Proto-Oncogene Proteins c-myc)
SB  - IM
MH  - Gene Rearrangement
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Immunoglobulin Heavy Chains/*genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Lymphoma, B-Cell/classification/diagnosis/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Neoplasm Grading
MH  - Proto-Oncogene Proteins c-bcl-2/*genetics
MH  - Proto-Oncogene Proteins c-myc/*genetics
PMC - PMC6549546
OTO - NOTNLM
OT  - B-cell lymphoma
EDAT- 2019/06/05 06:00
MHDA- 2020/05/27 06:00
PMCR- 2019/06/01
CRDT- 2019/06/05 06:00
PHST- 2019/02/18 00:00 [received]
PHST- 2019/03/27 00:00 [accepted]
PHST- 2019/06/05 06:00 [entrez]
PHST- 2019/06/05 06:00 [pubmed]
PHST- 2020/05/27 06:00 [medline]
PHST- 2019/06/01 00:00 [pmc-release]
AID - mcs.a004077 [pii]
AID - 10.1101/mcs.a004077 [doi]
PST - epublish
SO  - Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a004077. doi: 
      10.1101/mcs.a004077. Print 2019 Jun.