The United States of America, As Represented by the Secretary, Department of Health and Human Services

Electron Kebebew

Paul S Meltzer

Erin Patterson

Nesrin S Rechache

Yong-hong Wang

Disclosed herein are methods for detecting, diagnosing and/or prognosing a malignant adrenocortical tumor. Also disclosed are methods of treating a malignant adrenocortical tumor, such as ACC. In some examples, the method of diagnosing and/or prognosing includes obtaining a sample comprising genomic DNA from a subject at risk of acquiring or suspected to have an adrenocortical tumor; isolating genomic DNA from the sample; and measuring the level of one or more methylated genomic CpG dinucleotide sequences in one or more of the adrenocortical genomic targets in the sample, wherein an increase in the level of methylation of the one or more genomic CpG dinucleotide sequences in the sample compared to a control indicates a malignant adrenocortical tumor.

DNA methylation analysis for the diagnosis, prognosis and treatment of adrenal neoplasms

Disclosed herein are methods of diagnosing and treating a malignant adrenocortical tumor, including adrenocortical carcinoma. In some examples, methods of diagnosing a malignant adrenocortical tumor include detecting expression of at least one microRNA (miR) gene product, such as miR-100, miR-125b, miR-195, miR-483-3p, miR-483-5p and IGF2 mRNA in a sample obtained from the subject with an adrenocortical tumor and comparing expression of at least one of these miR gene products and IGF2 mRNA in the sample obtained from the subject to a control. Altered expression of at least one of the miR gene products and IGF2 mRNA, such as a decrease in miR-100, miR-125b or miR-195 or an increase in miR-483-3p, miR-483-5p, and an increase in IGF2 mRNA, in the sample obtained from the subject compared to the control indicates a malignant adrenocortical tumor.

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Rockville, MD, United States of America

Electron Kebebew