EML4-ALK translocations in lung cancer
AssigneeQuest Diagnostics Investments Incorporated
InventorsHeather R. Sanders, Maher Albitar, Aurelia Meloni-Ehrig
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Abstract
The present disclosure relates to methods for the diagnosis and evaluation of neoplastic disorders, particularly non-small cell lung cancer. Assays are described in which patient test samples are analyzed for the presence of one or more specific EML4-ALK fusion genes associated with neoplastic disorders.
Claims26
A method for diagnosing a non-small cell lung cancer or susceptibility to non-small cell lung cancer in human subject comprising:
- (a) performing a nucleic acid detection assay on a nucleic acid sample from a human subject to detect the presence of an EML4-ALK gene fusion in the nucleic acid sample, wherein the EML4-ALK gene fusion is (i) an E17;ins30A20 gene fusion between exon 17 of EML4 and intron 19 of ALK having a breakpoint region comprising SEQ ID NO:
- 1, or (ii) an E17ins30;ins65A20 gene fusion between exon 17 of EML4 and intron 19 of ALK having a breakpoint region comprising SEQ ID NO:2;
- and
- (b) diagnosing the subject as having or being susceptible to non-small cell lung cancer based on the presence of the EML4-ALK gene fusion in the nucleic acid sample,
- wherein the nucleic acid detection assay comprises amplification of a nucleic acid molecule with at least a primer pair, said primer pair comprising a forward primer comprising the nucleotide sequence set forth in SEQ ID NO:
- 19 and a reverse primer that hybridizes to exon 20 of ALK to produce amplified nucleic acid, and wherein the amplified nucleic acid comprises the sequence of SEQ ID NO:
- 1 or 2.
A method for detecting an E17;ins30A20 or E17ins30;ins65A20 EML4-ALK gene fusion comprising amplifying a nucleic acid molecule with at least a primer pair, said primer pair comprising a forward primer that hybridizes to exon 17 of EML4 and a reverse primer that hybridizes to exon 20 of ALK to produce amplified nucleic acid, and detecting amplified nucleic acid comprising the sequence of SEQ ID NO:
- 1 or SEQ ID NO:
- 2, thereby detecting the E17;ins30A20 or E17ins30;ins65A20 EML4-ALK gene fusion, wherein detecting the amplified nucleic acid comprising the sequence of SEQ ID NO:
- 1 indicated the presence of the E17ins30;ins65A20 EML4-ALK gene fusion.
A method for detecting an E17;ins30A20 or an E17ins30;ins65A20 EML4-ALK gene fusion in a nucleic acid sample, comprising hybridizing an oligonucleotide probe to target nucleic acid in the nucleic acid sample to form a hybridization complex between the oligonucleotide probe and target nucleic acid wherein the oligonucleotide probe comprises the nucleotide sequence set forth in any of SEQ ID NOs:
- 26-28, or the complements thereof;
- and detecting the presence of hybridization complexes comprising target nucleic acid comprising the nucleotide sequence of SEQ ID NO:
- 1 to thereby detect the presence of the E17;ins30A20 EML4-ALK gene fusion in the nucleic acid sample or detecting the presence of hybridization complexed comprising target nucleic acid comprising the nucleotide sequence of SEQ ID NO:
- 2 to the thereby detect the presence of the E17ins30;ins65A20 EML4ALK gene fusion in the nucleic acid sample.
Dependencies are inferred from the claim text.