PMID- 33205043
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220418
IS  - 2632-2498 (Electronic)
IS  - 2632-2498 (Linking)
VI  - 2
IP  - 1
DP  - 2020 Jan-Dec
TI  - Frequency of false-positive FISH 1p/19q codeletion in adult diffuse astrocytic 
      gliomas.
PG  - vdaa109
LID - 10.1093/noajnl/vdaa109 [doi]
LID - vdaa109
AB  - BACKGROUND: Oligodendroglioma is genetically defined by concomitant IDH 
      (IDH1/IDH2) mutation and whole-arm 1p/19q codeletion. Codeletion of 1p/19q 
      traditionally evaluated by fluorescence in situ hybridization (FISH) cannot 
      distinguish partial from whole-arm 1p/19q codeletion. Partial 1p/19q codeletion 
      called positive by FISH is diagnostically a "false-positive" result. Chromosomal 
      microarray (CMA) discriminates partial from whole-arm 1p/19q codeletion. Herein, 
      we aimed to estimate the frequency of partial 1p/19q codeletion that would lead 
      to a false-positive FISH result. METHODS: FISH 1p/19q codeletion test probe 
      coordinates were mapped onto Oncoscan CMA data to determine the rate of partial 
      1p/19q codeletion predicted to be positive by FISH. Diffuse astrocytic gliomas 
      with available CMA data (2015-2018) were evaluated and classified based on 
      IDH1-R132H/ATRX/p53 immunohistochemistry, IDH/TERT promoter targeted sequencing, 
      and/or CMA according to classification updates. Predicted false-positive cases 
      were verified by FISH whenever possible. RESULTS: The overall estimated 
      false-positive FISH 1p/19q codeletion rate was 3.6% (8/223). Predicted false 
      positives were verified by FISH in 6 (of 8) cases. False-positive rates did not 
      differ significantly (P = .49) between IDH-mutant (4.6%; 4/86) and IDH-wildtype 
      (2.9%; 4/137) tumors. IDH-wildtype false positives were all WHO grade IV, whereas 
      IDH-mutant false positives spanned WHO grades II-IV. Testing for 1p/19q 
      codeletion would not have been indicated for most false positives based on 
      current classification recommendations. CONCLUSION: Selective 1p/19q codeletion 
      testing and cautious interpretation for conflicting FISH and histopathological 
      findings are recommended to avoid potential misdiagnosis.
CI  - (c) The Author(s) 2020. Published by Oxford University Press, the Society for 
      Neuro-Oncology and the European Association of Neuro-Oncology.
FAU - Ball, Matthew K
AU  - Ball MK
AUID- ORCID: 0000-0002-1356-8856
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
FAU - Kollmeyer, Thomas M
AU  - Kollmeyer TM
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
FAU - Praska, Corinne E
AU  - Praska CE
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
FAU - McKenna, Michelle L
AU  - McKenna ML
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
FAU - Giannini, Caterina
AU  - Giannini C
AUID- ORCID: 0000-0003-2757-6782
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
FAU - Raghunathan, Aditya
AU  - Raghunathan A
AUID- ORCID: 0000-0001-6198-7441
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
FAU - Jentoft, Mark E
AU  - Jentoft ME
AUID- ORCID: 0000-0002-2939-5259
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, 
      Florida, USA.
FAU - Lachance, Daniel H
AU  - Lachance DH
AD  - Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
FAU - Kipp, Benjamin R
AU  - Kipp BR
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
FAU - Jenkins, Robert B
AU  - Jenkins RB
AUID- ORCID: 0000-0002-4049-694X
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
FAU - Ida, Cristiane M
AU  - Ida CM
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota, USA.
LA  - eng
GR  - P30 CA015083/CA/NCI NIH HHS/United States
PT  - Journal Article
DEP - 20200827
PL  - England
TA  - Neurooncol Adv
JT  - Neuro-oncology advances
JID - 101755003
PMC - PMC7654379
OTO - NOTNLM
OT  - WHO
OT  - astrocytoma
OT  - cIMPACT
OT  - chromosomal microarray
OT  - oligodendroglioma
EDAT- 2020/11/19 06:00
MHDA- 2020/11/19 06:01
PMCR- 2020/08/27
CRDT- 2020/11/18 06:01
PHST- 2020/11/18 06:01 [entrez]
PHST- 2020/11/19 06:00 [pubmed]
PHST- 2020/11/19 06:01 [medline]
PHST- 2020/08/27 00:00 [pmc-release]
AID - vdaa109 [pii]
AID - 10.1093/noajnl/vdaa109 [doi]
PST - epublish
SO  - Neurooncol Adv. 2020 Aug 27;2(1):vdaa109. doi: 10.1093/noajnl/vdaa109. 
      eCollection 2020 Jan-Dec.