SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas: A Description of the First 652 Cases.

Autor:	Atiq MA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Balan J; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Gross JM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Voss JS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Jin L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Fadra N; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Davila JI; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Pitel BA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Siqueira Parrilha Terra SB; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Minn KT; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Jackson RA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Hofich CD; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Willkomm KS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Peterson BJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Clausen SN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Rumilla KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Gupta S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Lo YC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Ida CM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Molligan JF; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Thangaiah JJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Petersen MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Sukov WR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Guo R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Giannini C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Schoolmeester JK 2nd; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Fritchie K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Inwards CY; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Folpe AL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Oliveira AM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Torres-Mora J; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Kipp BR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address: kipp.benjamin@mayo.edu., Halling KC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota. Electronic address: halling.kevin@mayo.edu.
Jazyk:	angličtina
Zdroj:	The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Nov 07. Date of Electronic Publication: 2024 Nov 07.
DOI:	10.1016/j.jmoldx.2024.10.004
Abstrakt:	An amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and BCOR internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed. Gene fusions were detected in 238 (36.5%) of 652 cases, including 83 distinct fusions in the 238 fusion-positive cases, 10 of which had not been previously described. Among the 238 fusion-positive cases, the results assisted in establishing a diagnosis for 137 (58%) cases, confirmed a suspected diagnosis in 66 (28%) cases, changed a suspected diagnosis in 25 (10%) cases, and were novel fusions with unknown clinical significance in 10 (4%) cases. Twenty-six cases had gene fusions (ALK, ROS1, NTRK1, NTRK3, and COL1A1::PDGFB) for which there are targetable therapies. BCOR internal tandem duplications were identified in 6 (1.2%) of 485 patients. Among the 138 genes in the panel, 66 were involved in one or more fusions, and 72 were not involved in any fusions. There was little overlap between the genes involved as 5'-partners (31 different genes) and 3'-partners (37 different genes). This study shows the clinical utility of a next-generation sequencing gene fusion detection assay for the diagnosis and treatment of sarcomas. Competing Interests: Disclosure Statement None declared. (Copyright © 2024. Published by Elsevier Inc.)
Databáze:	MEDLINE
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