Compositions and methods for classifying thyroid nodule disease

摘要

A system for classifying thyroid nodule tissue as malignant or benign is provided that is based on the identification of sets of gene transcripts, which are characterized in that changes in expression of each gene transcript within a set of gene transcripts can be correlated to with either malignant or benign thyroid nodule disease. The thyroid classification system provides for sets of “thyroid classifying” target sequences and further provides for combinations of polynucleotide probes and primers derived there from. These combinations of polynucleotide probes can be provided in solution or as an array. The combination of probes and the arrays can be used for diagnosis. The invention further provides further methods of classifying thyroid nodule tissue.

主权项

1. A method, comprising:
(a) assaying by sequencing, array hybridization or nucleic acid amplification the expression level of each of a first group of transcripts and a second group of transcripts in a fine needle aspirate test sample from a thyroid nodule of a subject, wherein said first group of transcripts includes at least two transcripts corresponding to at least two sequences selected from SEQ ID No. 1-6, 11-13, 16-248, and said second group of transcripts includes at least two transcripts corresponding to at least two sequences selected from of SEQ ID No. 7-10, 14, 15, 249-584, wherein said first group includes SEQ ID No. 104 and said second group includes SEQ ID No. 257 and 283; and (b) in a programmed computer, comparing said expression level of each of said first group of transcripts and second group of transcripts with reference expression levels of transcripts corresponding to sequences as set forth in SEQ ID No.1 to 584 to (1) classify said thyroid nodule as malignant if there is an increase in an expression level corresponding to said first group or a decrease in an expression level corresponding to said second group, or (2) classify said thyroid nodule as benign if there is an increase in said expression level corresponding to said second group or a decrease in said expression level corresponding to said first group.