Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

Context: Adrenocortical carcinoma (ACC) is a rare and lethal malignancy with a poorly defined etiology, and the molecular genetics of ACC are incompletely understood.

Objective: To utilize whole-exome sequencing for genetic characterization of the underlying somatic mutations and copy number alterations present in ACC.

Design: Screening for somatic mutation events and copy number alterations (CNAs) was performed by comparative analysis of tumors and matched normal samples from 41 patients with ACC.

(Cleaved) CK18 serum and tissue expression levels differentiate acute HCV reinfection from acute rejection in liver allografts.

Background & Aims: Orthotopic liver transplantation (OLT) is the sole therapeutic option to cure end-stage liver diseases including HCV-related cirrhosis. Timely and precise differentiation of relevant acute HCV reinfection from acute rejection after OLT is vital for appropriate therapy. Aim of this study was to evaluate the usefulness of (non-) invasive apoptosis (M30) and necrosis (M65) determination in the differential diagnosis of acute (and chronic) HCV reinfection vs.

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Adrenal tumors autonomously producing cortisol cause Cushing's syndrome. We performed exome sequencing of 25 tumor-normal pairs and identified 2 subgroups. Eight tumors (including three carcinomas) had many somatic copy number variants (CNVs) with frequent deletion of CDC42 and CDKN2A, amplification of 5q31.

Retroperitoneoscopic adrenalectomy in Conn's syndrome caused by adrenal adenomas or nodular hyperplasia.

Background: In patients with primary hyperaldosteronism, solitary adrenal adenomas are an indication for surgical intervention. In contrast, adrenal hyperplasia is almost exclusively treated by drugs.

Patients And Methods: In a prospective clinical study 183 patients (81 men, 102 women; age 49.