Table 1 Summary of clinical cases and expected results

IQN Path Sample 2018 – A

1

Never smoker patient, diagnosed with metastatic lung adenocarcinoma at age 62. EGFR testing performed on the patient’s tumour biopsy specimen failed. Testing for EGFR gene mutations on the patient’s plasma sample has been requested.

c.2236_2250del p.(Glu746_Ala750del)

(1.3% VAF)

IQN Path Sample 2018 – B

2

Patient with metastatic lung adenocarcinoma diagnosed at age 80. After resection, tumour tissue was analysed and no EGFR variant was detected. EGFR gene testing has been requested on the patient’s plasma sample.

No mutations detected within regions tested

IQN Path Sample 2018 – C

3

Patient with metastatic lung adenocarcinoma, diagnosed at age 68. Patient received first line EGFR-TKI treatment and is now in clear clinical progression. No tissue sample or cytology specimen of progressing disease is available due to their poor clinical condition. Testing of the patient’s plasma sample for EGFR gene variants has been requested.

c.2369C > T p.(Thr790Met)

(5.1% VAF) and

c.2573 T > G p.(Leu858Arg)

(4.7% VAF)

IQN Path Sample 2018 – D

4

Patient diagnosed with metastatic lung adenocarcinoma at age 55. The patient was found to have an EGFR mutation and received first line treatment with an EGFR-TKI. At progression of the disease on TKI, the patient had a tissue biopsy but no tumour cells were present. EGFR gene testing has been requested on the patient’s plasma sample

c.2236_2250del p.(Glu746_Ala75del)

(6.2% VAF)

IQN Path Sample 2018 – E

5

Patient diagnosed with EGFR-mutant metastatic lung adenocarcinoma at age 65. The patient has a radiological progression of their primary tumour wheras the metastatic lesions are stable. Testing for EGFR gene variants on patient’s plasma sample has been requested.

c.2369C > T p.(Thr790Met)

(0.81% VAF) and

c.2573 T > G p.(Leu858Arg)

(0.49% VAF)