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Three professional bodies set out what every laboratory must test for in lung cancer, which sample types are acceptable, and when a blood test may stand in for a piece of tumour.
An expert panel convened by the College of American Pathologists, the International Association for the Study of Lung Cancer and the Association for Molecular Pathology systematically reviewed the evidence since the 2013 guideline and drafted 18 new recommendations while updating three. The 2013 guideline was largely reaffirmed, with updates allowing testing of cytology samples, requiring improved assay sensitivity and recommending against immunohistochemistry for EGFR testing. Key new recommendations include ROS1 testing for all patients with adenocarcinoma; the inclusion of ERBB2, MET, BRAF, KRAS and RET for laboratories that perform next-generation sequencing panels; immunohistochemistry as an alternative to fluorescence in situ hybridisation for ALK and ROS1 testing; assays with 5% sensitivity for EGFR T790M in patients with secondary resistance to EGFR inhibitors; and the use of cell-free DNA to rule in targetable mutations when tissue is limited or hard to obtain.
It is the document that defines what a complete lung cancer molecular report looks like, and its asymmetry about plasma, rule in but never rule out, is the single most useful sentence in it.
Shares Biopsy, ROS1, Cell-free DNA (cfDNA), RET.
Shares Biopsy, ROS1, Cell-free DNA (cfDNA), RET.
Shares EGFR exon 20 insertion, ROS1 fusion (ROS1-positive), RET fusion and RET mutation, EGFR exon 19 deletion.
Shares ROS1, RET, Non-small cell lung cancer (KEGG map), Next-generation sequencing (NGS).
Shares EGFR L858R, EGFR T790M, EGFR exon 19 deletion, EGFR mutation subtypes (exon 19 deletion, L858R, exon 20 insertion, T790M).
Shares EGFR T790M, Biopsy, EGFR mutation subtypes (exon 19 deletion, L858R, exon 20 insertion, T790M), Cell-free DNA (cfDNA).
Shares ALK fusion (ALK-positive), Cytogenetics and FISH, Non-small cell lung cancer (KEGG map), Next-generation sequencing (NGS).
Shares EGFR L858R, EGFR exon 19 deletion, EGFR mutation subtypes (exon 19 deletion, L858R, exon 20 insertion, T790M), Non-small cell lung cancer (KEGG map).