| 摘要 |
Claimed is an in vitro method for identifying a subject having an anaplastic lymphoma kinase (ALK)-positive tumour, or at risk of developing the same, comprising testing to determine the function and/or expression and/or nucleotide sequence variation of the NUDT18 gene (Nucleoside diphosphate linked motif X motif 18, MutT human homolog 3, Nudix motif 18, MTH3). Also claimed is an associated method for identifying a lead candidate with efficacy in the treatment or prevention of an ALK-positive tumour. Alternatively claimed in the aforementioned methods are any one or more of the genes in Table 1, or identifying a subject with chromosomal instability by measuring any one or more of the genes in Table 1. Alternatively claimed are methods for prognosis of a subject with an ALK-positive tumour and methods for identifying a subject at risk of recurrence of an ALK-positive tumour. Preferably, the ALK-positive tumour is anaplastic large cell lymphoma (ALCL) and the testing involves detecting insertion/deletions and single nucleotide polymorphisms (SNPs). Preferably, testing DNA from the subject may comprise determining the presence of a variant sequence in any one or more of DIXDC1, EI24/PIG8, LTBP4 and ZNF516. |
