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Gregory J. Riely, MD, PhD


Can Semiconductor Sequencing Be of Use in Detecting Actionable Fusions in Solid Tumors?

By: Joshua D. Madera, MS
Posted: Thursday, October 6, 2022

The addition of semiconductor sequencing to routine diagnostic pathology techniques may be useful in detecting actionable fusions, according to a study published in PLOS One. This seamless integration may improve the ability to establish personalized treatment regimens for patients across various tumor types, which may improve clinical cancer management, explained Gareth Williams, PhD, FRCPath, of Oncologica UK Ltd, Cambridge, United Kingdom, and colleagues.

From 2018 to 2019, a total of 1,112 patients with various types of solid tumors were recruited for the study. Patients had either primary (n = 737) or metastatic (n = 375) disease. Tissue samples were collected and subjected to next-generation sequencing. RNA was also extracted and sequenced using the Ion Ampliseq library 2.0.

A total of 7.4% of the samples exhibited at least one fusion gene event. Of these samples, seven displayed two fusion genes, of which four were glioblastomas. These fusions included CAPZA2::MET and MET::MET, CAPZA2::MET and FIP1L1::PDGFRA, PTPRZ1::MET and TBL1XR1::PIK3CA, and EGFR VIII and PTPRZ1::MET. Additionally, 61% of tumors contained the four major fusion types: MET::MET, FGFR3::TACC3, TBL1XR1::PIK3CA, and WHSC1L1::FGFR1. Furthermore, cancers with the most diverse types of actionable fusions included breast, colorectal, glioblastoma, and lung cancers. Moreover, a comparison of the number of fusions between primary and metastatic cancers did not reveal any significant differences (9.0% vs. 6.1%, respectively). However, women tended to be more likely to have the WHSC1L1::FGFR1 fusion gene, whereas men tended to be more likely to have the FGFR3::TACC3 fusion gene.

Disclosure: All study authors are employees of Oncologica UK Ltd, which provides precision oncology testing for patients with cancer.

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