Next-generation genomic sequencing is a useful tool for differentiating between ovarian endometrioid carcinoma and endometrial endometrioid carcinoma (183)

Abstract

Objectives: To determine the difference in molecular signatures specific to ovarian endometrioid carcinoma and endometrial endometrioid carcinoma using next-generation cancer genomic sequencing data. Methods: Next-generation sequencing data for ovarian endometrioid carcinoma and endometrial endometrioid carcinoma were obtained from the American Association for Cancer Research (AACR) Genomics Evidence Neoplasia Information Exchange (Project GENIE). All specimens were assessed for the occurrence of any molecular alteration within the most frequently mutated genes in both tumor types. Multivariable logistic regression was then used to determine molecular predictive models specific to ovarian endometrioid carcinoma versus endometrial endometrioid carcinoma. Results: The top 105 mutated genes in both tumor types were queried in 1,813 total tumor specimens, including 181 ovarian endometrioid carcinoma and 1,632 endometrial endometrioid carcinoma. Mutations in the following genes were positively associated with the ovarian endometrioid carcinoma histology (odds ratio, 95% CI, p-value): CTNNB1 (1.728, 1.226-2.435, 0.002), MGA (3.248, 1.653-6.379, <0.001), KDM6B (4.082, 1.385-12.027, 0.011), CIITA (2.758, 1.210-6.288, 0.016), and ENG (6.637, 1.591-27.695, 0.009). Mutations in the following genes were positively associated with the endometrial endometrioid carcinoma histology (odds ratio, 95% CI, p-value): PIK3CA (1.469, 1.037-2.082, 0.030), PTEN (2.997, 2.079-4.319, <0.001), PIK3R1 (1.935, 1.176-3.186, 0.009), CTCF (2.105, 1.091-4.065, 0.027), ZFHX3 (2.890, 1.123-7.440, 0.028), and BCOR (3.753, 1.809-7.786, <0.001). Objectives: To determine the difference in molecular signatures specific to ovarian endometrioid carcinoma and endometrial endometrioid carcinoma using next-generation cancer genomic sequencing data. Methods: Next-generation sequencing data for ovarian endometrioid carcinoma and endometrial endometrioid carcinoma were obtained from the American Association for Cancer Research (AACR) Genomics Evidence Neoplasia Information Exchange (Project GENIE). All specimens were assessed for the occurrence of any molecular alteration within the most frequently mutated genes in both tumor types. Multivariable logistic regression was then used to determine molecular predictive models specific to ovarian endometrioid carcinoma versus endometrial endometrioid carcinoma. Results: The top 105 mutated genes in both tumor types were queried in 1,813 total tumor specimens, including 181 ovarian endometrioid carcinoma and 1,632 endometrial endometrioid carcinoma. Mutations in the following genes were positively associated with the ovarian endometrioid carcinoma histology (odds ratio, 95% CI, p-value): CTNNB1 (1.728, 1.226-2.435, 0.002), MGA (3.248, 1.653-6.379, <0.001), KDM6B (4.082, 1.385-12.027, 0.011), CIITA (2.758, 1.210-6.288, 0.016), and ENG (6.637, 1.591-27.695, 0.009). Mutations in the following genes were positively associated with the endometrial endometrioid carcinoma histology (odds ratio, 95% CI, p-value): PIK3CA (1.469, 1.037-2.082, 0.030), PTEN (2.997, 2.079-4.319, <0.001), PIK3R1 (1.935, 1.176-3.186, 0.009), CTCF (2.105, 1.091-4.065, 0.027), ZFHX3 (2.890, 1.123-7.440, 0.028), and BCOR (3.753, 1.809-7.786, <0.001).