The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here:

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Åke Borg

Åke Borg

Principal investigator

Åke Borg

Clinical framework for next generation sequencing based analysis of treatment predictive mutations and multiplexed gene fusion detection in non-small cell lung cancer


  • Kajsa Ericson Lindquist
  • Anna Karlsson
  • Per Levéen
  • Hans Brunnström
  • Christel Reuterswärd
  • Karolina Holm
  • Mats Jönsson
  • Karin Annersten
  • Frida Rosengren
  • Karin Jirström
  • Jaroslaw Kosieradzki
  • Lars Ek
  • Åke Borg
  • Maria Planck
  • Göran Jönsson
  • Johan Staaf

Summary, in English

Precision medicine requires accurate multi-gene clinical diagnostics. We describe the implementation of an Illumina TruSight Tumor (TST) clinical NGS diagnostic framework and parallel validation of a NanoString RNA-based ALK, RET, and ROS1 gene fusion assay for combined analysis of treatment predictive alterations in non-small cell lung cancer (NSCLC) in a regional healthcare region of Sweden (Scandinavia). The TST panel was clinically validated in 81 tumors (99% hotspot mutation concordance), after which 533 consecutive NSCLCs were collected during one-year of routine clinical analysis in the healthcare region (~90% advanced stage patients). The NanoString assay was evaluated in 169 of 533 cases. In the 533-sample cohort 79% had 1-2 variants, 12% >2 variants and 9% no detected variants. Ten gene fusions (five ALK, three RET, two ROS1) were detected in 135 successfully analyzed cases (80% analysis success rate). No ALK or ROS1 FISH fusion positive case was missed by the NanoString assay. Stratification of the 533-sample cohort based on actionable alterations in 11 oncogenes revealed that 66% of adenocarcinomas, 13% of squamous carcinoma (SqCC) and 56% of NSCLC not otherwise specified harbored ≥1 alteration. In adenocarcinoma, 10.6% of patients (50.3% if including KRAS) could potentially be eligible for emerging therapeutics, in addition to the 15.3% of patients eligible for standard EGFR or ALK inhibitors. For squamous carcinoma corresponding proportions were 4.4% (11.1% with KRAS) vs 2.2%. In conclusion, multiplexed NGS and gene fusion analyses are feasible in NSCLC for clinical diagnostics, identifying notable proportions of patients potentially eligible for emerging molecular therapeutics.


  • Breastcancer-genetics
  • Tumor microenvironment
  • Research Group Lung Cancer
  • Personalized Pathology & Cancer Therapy
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • Create Health

Publishing year












Document type

Journal article


Impact Journals


  • Cancer and Oncology



Research group

  • Research Group Lung Cancer
  • Personalized Pathology & Cancer Therapy


  • ISSN: 1949-2553