Skip to main content
Dryad

Data from: The GAPP aggressivity score correlates with total somatic protein-truncating variant burden in sporadic pheochromocytoma

Halperin, Reut1; Goldinger, Gil2; Fridman, Eddie2; Peshes Yaloz, Naama2; Tirosh, Amit1; Shlomai, Gadi1

Published Jun 25, 2026 on Dryad. https://doi.org/10.5061/dryad.hhmgqnkx6

Data files

Jun 25, 2026 version files 1.55 GB

Click names to download individual files

Abstract

Pheochromocytomas and paragangliomas (PPGLs) can be metastatic in up to 30 % of cases. To assess this risk, scoring systems like PASS and GAPP were developed, yet it is unclear whether these scores correlate with somatic genetic alterations. A retrospective pilot study. Twenty sporadic pheochromocytoma patients, stratified into high- and low-risk groups based on GAPP and PASS scores. Somatic variant burden, derived from whole-exome sequencing, and clinical variables were compared between groups. Six patients (30.0 %) comprised the high-risk group; all had PASS scores > 4 and GAPP scores indicating moderately differentiated PPGLs. Compared with the low-risk group, the high-risk group had larger tumors (4.7 vs. 3.4 cm, p = 0.03) and showed trends toward higher diastolic blood pressure (90 vs. 79 mmHg, p = 0.09), normetanephrine (8.5 vs. 2.3 X upper limit of normal [ULN], p = 0.08), and metanephrine (22.9 vs. 9.25 X ULN, p = 0.09) levels. The high-risk group also demonstrated a higher somatic variant burden, particularly for truncating variants (32 vs. 26, p = 0.04). As a continuous variable, only the GAPP score, not PASS score, showed a significant positive correlation with variant burden, observed for both non-missense (r = 0.57, p = 0.009) and frameshift (r = 0.47, p = 0.04) variants. Higher pathological severity scores are associated with increased rates of severe molecular somatic variants. The stronger link between GAPP score and genetic alteration rates suggests it better reflects the genomic complexity of sporadic PPGLs.