AGAP3: A novel BRAF fusion partner in pediatric pancreatic-type acinar cell carcinoma.
BRAF rearrangement
RNA sequencing
acinar cell carcinoma
fusion gene
pediatric
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
revised:
27
07
2022
received:
25
05
2022
accepted:
07
08
2022
pubmed:
12
8
2022
medline:
12
10
2022
entrez:
11
8
2022
Statut:
ppublish
Résumé
Most available molecular data on pancreatic acinar cell carcinoma (PACC) are provided by studies of adult cases. BRAF, RAF1, or RET rearrangements have been described in approximately 30% of cases. To the best of our knowledge, only seven cases with molecular data have been reported in pediatric PACC. We report here the comprehensive study of a pancreatic-type ACC from a 6-year-old patient. We detected an AGAP3::BRAF fusion. This result showing a BRAF rearrangement demonstrates a molecular link between adult and pediatric PACC. Moreover, it identifies AGAP3, a gene located at 7q36.1 that encodes a major component of the N-methyl-d-aspartate (NMDA) receptor signaling complex, as a partner gene of BRAF. The variability of BRAF partners is consistent with a driver role of BRAF alterations in PACC. The identification of such alterations is noteworthy for considering the use of MEK inhibitors in metastatic cases. We did not detect associated genomic instability. The better outcome of pediatric cases might be related to their stable genomic background.
Identifiants
pubmed: 35949061
doi: 10.1002/gcc.23091
pmc: PMC9804258
doi:
Substances chimiques
N-Methylaspartate
6384-92-5
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Mitogen-Activated Protein Kinase Kinases
EC 2.7.12.2
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
734-739Informations de copyright
© 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.
Références
Genes Chromosomes Cancer. 2022 Dec;61(12):734-739
pubmed: 35949061
Mol Cancer Res. 2020 Apr;18(4):537-548
pubmed: 31911540
Virchows Arch. 2014 Dec;465(6):661-72
pubmed: 25298229
Pathology. 2018 Apr;50(3):345-348
pubmed: 29506751
J Neurosci. 2013 Jul 31;33(31):12586-98
pubmed: 23904596
Front Med (Lausanne). 2015 Jun 15;2:41
pubmed: 26137463
Cell Rep. 2019 Oct 15;29(3):573-588.e7
pubmed: 31618628
Int J Cancer. 2016 Feb 15;138(4):881-90
pubmed: 26314551
Semin Diagn Pathol. 2016 Sep;33(5):307-18
pubmed: 27320062
Mod Pathol. 2020 Apr;33(4):657-664
pubmed: 31558784
Anticancer Res. 2019 Jan;39(1):99-106
pubmed: 30591445
Cancer Discov. 2014 Dec;4(12):1398-405
pubmed: 25266736
Mod Pathol. 2020 Sep;33(9):1811-1821
pubmed: 32358589
Clin Cancer Res. 2017 Sep 15;23(18):5631-5638
pubmed: 28539463
Mod Pathol. 2018 Jan;31(1):132-140
pubmed: 28884748
Virchows Arch. 2009 Feb;454(2):133-42
pubmed: 19066953
Oncologist. 2021 Jan;26(1):e153-e163
pubmed: 32918774
Am J Pathol. 2002 Mar;160(3):953-62
pubmed: 11891193
Virchows Arch. 2018 Oct;473(4):435-441
pubmed: 29721608
Genes Chromosomes Cancer. 2021 Dec;60(12):789-795
pubmed: 34398495
Cancer Discov. 2019 Mar;9(3):329-341
pubmed: 30770389
Nat Commun. 2017 Nov 6;8(1):1323
pubmed: 29109526
JCO Precis Oncol. 2021 Sep 16;5:
pubmed: 34568720
JCO Precis Oncol. 2020 Nov;4:801-805
pubmed: 35050754
Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):
pubmed: 32843432
Clin Lung Cancer. 2021 Nov;22(6):e878-e880
pubmed: 34148767