ALK Fusions
& Resistance

EML4 is not the only partner.

FISH and IHC have shown to give discordant results and in one
study the use of FISH or IHC alone would have
missed 25% of ALK-positive cases.7

Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase. Mutations in ALK have been noted for driving a variety of cancers. ALK fusions have been seen in non-small cell lung cancer (NSCLC)1, Ovarian cancer2, and colorectal cancer3. ALK fusions can occur in the entire ALK tyrosine kinase domain. Missense mutations in ALK have been found in some neuroblastomas4. Additionally, copy number gains have been observed in renal cell carcinoma5 and rhabdomyosarcoma.

Presented at ESMO 2016
Presented at ASCO 2016
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Gene Partner and Breakpoint Discovery

The ctDx platform has proven ability to discovery ALK gene fusions regardless of the fusion partner gene or breakpoint. The technology allows for the discovery of novel partners such as PRKAR1A or even fusions to non-coding regions. The assay also covers the tyrosine kinase domain of ALK where resistance mutations can occur, such as ALK C1156Y.

When tumor pathology is driven by ALK fusions, the tumor cells have been shown to be sensitive to ALK kinase inhibitors, such as crizotinib, and therefore have been recommended by the National Comprehensive Cancer Network (NCCN) for front-line therapeutic treatment of NSCLC patients.8

ALK Fusions
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Resistance Mutations

The assay also covers the entire tyrosine kinase domain of ALK where resistance mutations can occur. Additionally, the assay is able to detect ALK copy number amplifications (CNV).

Canonical Resistance Mutations
G1123S, 1151Tins, 1152P/R, C1156Y/T, I1171H/S/T/N, F1174C/L/V, V1180L, L1196M, L1198F, G1202R, G1202del, D1203N, S1206C/F/Y, G1210K, F1245C, F1269A/S, R1275Q, C1156Y+L1198F, F1174L+E1210K