Assaying ovarian cyst fluid

Abstract

A diagnostic test for ovarian cysts is based on the detection of mutations characteristic of the most common neoplasms giving rise to these lesions. With this test, tumor-specific mutations were detected in the cyst fluids of 19 of 24 (79%) borderline tumors and 28 of 31 (90%) malignant ovarian cancers. In contrast, we detected no mutations in the cyst fluids from 10 non-neoplastic cysts and 12 benign tumors. When categorized by the need for exploratory surgery (i.e., presence of a borderline tumor or malignant cancer), the sensitivity of this test was 85% and the specificity was 100%. These tests could inform the diagnosis of ovarian cysts and improve the clinical management of the large number of women with these lesions.

1 - 34 . (canceled) 
     
     
         35 . A method, comprising:
 testing ovarian cyst fluid for a mutation in at least one gene mutated in a type II ovarian neoplasm, wherein said at least one gene comprises TP53,   wherein the step of testing employs a step of adding a unique identifier (UID) to a plurality of TP53 template DNA molecules in the ovarian cyst fluid, and   wherein the method has a sensitivity level of at least 70%.   
     
     
         36 . The method of  claim 35 , wherein said at least one gene further comprises KRAS. 
     
     
         37 . The method of  claim 35 , wherein the step of testing employs TP53-specific reagents. 
     
     
         38 . The method of  claim 35 , wherein the step of testing employs TP53 mutation-specific reagents. 
     
     
         39 . The method of  claim 35 , wherein the testing is performed on the ovarian cyst fluid and on a sample selected from the group consisting of cyst wall and normal, non-ovarian tissue. 
     
     
         40 . The method of  claim 35 , wherein the ovarian cyst fluid is obtained by needle aspiration of an ovarian cyst. 
     
     
         41 . The method of  claim 35 , wherein the ovarian cyst fluid is obtained prior to any surgical removal of the ovarian cyst. 
     
     
         42 . The method of  claim 35 , wherein the ovarian cyst fluid is obtained after surgical removal of the ovarian cyst and recurrence of the ovarian cyst. 
     
     
         43 . The method of  claim 35 , wherein a copy number variation, a loss of heterozygosity, or both, is determined for said at least one gene. 
     
     
         44 . The method of  claim 35 , wherein a point mutation, a rearrangement, a frameshift, or combinations thereof, is determined for said at least one gene. 
     
     
         45 . The method of  claim 35 , wherein the method has a sensitivity level of at least 85%. 
     
     
         46 . The method of  claim 35 , wherein the method has a specificity level of at least 90%. 
     
     
         47 . The method of  claim 35 , wherein the ovarian neoplasm needs surgery.