Case Series: <i>ATRX</i> Variants in Four Patients with Metastatic Pheochromocytoma.

ABSTRACT: Few reports have highlighted the rare presence of somatic ATRX variants in clinically aggressive, metastatic pheochromocytoma/paraganglioma (PCC/PGL); however, none have addressed detailed clinical presentation (including biochemistry and imaging) and management of these patients. Here, we address these clinical features and management based on four PCC patients with somatic ATRX variants from our National Institutes of Health PCC/PGL cohort. A total of 192 patients underwent exome sequencing (germline, somatic, or both), and four males were found to have somatic ATRX variants (with additional somatic VHL and FH oncogenic variants in patients 2 and 4, respectively). Per-lesion and per-patient comparisons were performed among functional imaging scans perfo

SUBMITTER: Cortez BN 

PROVIDER: S-EPMC11439680 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature