ALK and NTRK1 fusion molecules and uses thereof
Inventors
Cronin, Maureen T. • Lipson, Doron • Yelensky, Roman
Assignees
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Abstract
Novel ALK and NTRK1 fusion molecules and uses are disclosed.
Core Innovation
The disclosure describes methods for determining the presence of an LMNA-NTRK1 fusion polypeptide or its encoding nucleic acid in a sample from a subject with melanoma or a Spitz tumor. The fusion is characterized by LMNA exon 2 directly fused in frame to NTRK1 exon 11, preserving the NTRK1 kinase domain. Described detection approaches include sequencing, PCR, FISH, and antibody-based assays.
The disclosure further describes evaluating a subject who has participated in a clinical trial or has been treated for cancer by acquiring genotype information identifying the LMNA-NTRK1 fusion and treating the subject with a kinase inhibitor. The presence of the fusion identifies the subject as having an increased risk for, or the presence of, melanoma or a Spitz tumor. Fusion-directed screening result reporting and related DCTN1-ALK fusion concepts are also described.
Claims Coverage
The claims encompass two inventive features across two independent claims covering fusion detection and therapeutic evaluation.
Determining the presence of an LMNA-NTRK1 fusion
The method determines whether an LMNA-NTRK1 fusion polypeptide or its encoding nucleic acid is present in a sample from a subject with melanoma or a Spitz tumor, wherein LMNA exon 2 is directly fused in frame to NTRK1 exon 11, or an encoding nucleic acid comprising the corresponding junction or specified breakpoint sequence.
Evaluating and treating a subject based on LMNA-NTRK1 fusion genotype information
The method evaluates a subject who has participated in a clinical trial or has been treated for cancer by acquiring genotype information identifying an LMNA-NTRK1 fusion polypeptide or its encoding nucleic acid, identifying the subject as having an increased risk for or the presence of melanoma or a Spitz tumor, and treating the subject with a kinase inhibitor.
The independent claims cover fusion detection in a patient sample and evaluation with kinase-inhibitor treatment based on genotype information identifying the LMNA-NTRK1 fusion.
Stated Advantages
Not explicitly described in patent.
Documented Applications
Detection and characterization of an LMNA-NTRK1 fusion polypeptide or encoding nucleic acid in samples or genotype information from subjects with melanoma or a Spitz tumor.
Evaluating a subject with a history of clinical-trial participation or cancer treatment and treating the subject with a kinase inhibitor based on genotype information identifying the LMNA-NTRK1 fusion.
Fusion-directed screening result reporting, including preparation of personalized cancer treatment reports containing treatment options.
Detection of DCTN1-ALK fusions and related therapeutic concepts.
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