PMID- 35183572
OWN - NLM
STAT- MEDLINE
DCOM- 20220427
LR  - 20220518
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Linking)
VI  - 123
DP  - 2022 May
TI  - Comparison of gene fusion detection methods in salivary gland tumors.
PG  - 1-10
LID - S0046-8177(22)00030-2 [pii]
LID - 10.1016/j.humpath.2022.02.002 [doi]
AB  - Salivary gland neoplasms may pose diagnostic difficulties due to overlapping 
      morphologic features. Recently, specific gene fusions have been discovered that 
      correspond to particular tumor types, and can aid in accurate diagnosis. Gene 
      rearrangements are commonly assessed by fluorescence in situ hybridization 
      (FISH), although use of next-generation sequencing is increasing. However, there 
      is no "gold standard" for fusion detection. We determined the concordance between 
      FISH and a targeted RNA sequencing panel in gene fusion detection across 
      twenty-two salivary gland tumors, including five mucoepidermoid carcinomas, four 
      acinic cell carcinomas, four pleomorphic adenomas, two adenoid cystic carcinomas, 
      two NUT carcinomas, and one each of basal cell adenoma, salivary duct carcinoma 
      ex-pleomorphic adenoma, salivary duct carcinoma, clear cell carcinoma, and 
      secretory carcinoma. Directed FISH testing based on the diagnosis was performed 
      on cases that did not already have FISH conducted during clinical workup. 
      Targeted RNA sequencing of 507 genes and their partners (using the Illumina 
      TruSight Fusion Panel) was completed. Six of twenty-two (27.3%) cases had 
      discordant results. In three cases, FISH results were negative while RNA 
      sequencing results found fusion transcripts, which were all confirmed with RT-PCR 
      and Sanger sequencing. In three cases, RNA sequencing results were negative while 
      FISH results were positive for a gene rearrangement. Thus, if fusion analysis 
      results are conflicting with the morphologic impression, a second mode of fusion 
      detection may be warranted. Although both methods have advantages and drawbacks, 
      RNA sequencing provides additional information about novel fusion partners and 
      fusions that may not have been originally considered.
CI  - Copyright (c) 2022 Elsevier Inc. All rights reserved.
FAU - Sun, Lulu
AU  - Sun L
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States. Electronic address: sunl@wustl.edu.
FAU - Petrone, Jessica S
AU  - Petrone JS
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States.
FAU - McNulty, Samantha N
AU  - McNulty SN
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States.
FAU - Evenson, Michael J
AU  - Evenson MJ
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States.
FAU - Zhu, Xiaopei
AU  - Zhu X
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States.
FAU - Robinson, Joshua A
AU  - Robinson JA
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States.
FAU - Chernock, Rebecca D
AU  - Chernock RD
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States.
FAU - Duncavage, Eric J
AU  - Duncavage EJ
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States.
FAU - Pfeifer, John D
AU  - Pfeifer JD
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St. Louis, MO, 63110, United States.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220217
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
SB  - IM
MH  - *Adenoma, Pleomorphic/pathology
MH  - *Carcinoma/pathology
MH  - *Carcinoma, Acinar Cell/pathology
MH  - Gene Fusion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - *Salivary Gland Neoplasms/diagnosis/genetics/pathology
OTO - NOTNLM
OT  - Fluorescence in situ hybridization
OT  - Gene fusions
OT  - Molecular pathology
OT  - RNA sequencing
OT  - Salivary gland tumors
EDAT- 2022/02/21 06:00
MHDA- 2022/04/28 06:00
CRDT- 2022/02/20 20:30
PHST- 2021/12/07 00:00 [received]
PHST- 2022/02/03 00:00 [accepted]
PHST- 2022/02/21 06:00 [pubmed]
PHST- 2022/04/28 06:00 [medline]
PHST- 2022/02/20 20:30 [entrez]
AID - S0046-8177(22)00030-2 [pii]
AID - 10.1016/j.humpath.2022.02.002 [doi]
PST - ppublish
SO  - Hum Pathol. 2022 May;123:1-10. doi: 10.1016/j.humpath.2022.02.002. Epub 2022 Feb 
      17.