TABLE 1.
Sample | Mutation of ALK gene | ClinVar | Nucleotide change | rs number |
---|---|---|---|---|
Small‐sized tumour cells at onset | D1529E | Benign | c.4587C > G | rs1881421 |
K1491R | Benign | c.4472A > G | rs1881420 | |
I1461V | Benign | c.4381A > G | rs1670283 | |
Large‐sized tumour cells at onset | D1529E | Benign | c.4587C > G | rs1881421 |
K1491R | Benign | c.4472A > G | rs1881420 | |
I1461V | Benign | c.4381A > G | rs1670283 | |
Small‐sized tumour cells at the first relapse | D1529E | Benign | c.4587C > G | rs1881421 |
K1491R | Benign | c.4472A > G | rs1881420 | |
I1461V | Benign | c.4381A > G | rs1670283 | |
Large‐sized tumour cells of the pulmonary tumour at the second relapse | L1196M | Likely pathogenic | c.3586C > A | rs1057519784 |
D1529E | Benign | c.4587C > G | rs1881421 | |
K1491R | Benign | c.4472A > G | rs1881420 | |
I1461V | Benign | c.4381A > G | rs1670283 |
Note: Large tumour cells of the pulmonary tumour at the second relapse acquired an L1196M mutation in the ALK gene.
Abbreviation: SNPs, single nucleotide polymorphisms.