Abstract
Pheochromocytoma (PCC) and paraganglioma (PGL) are rare malignancies while pathogenesis
is strongly influenced by genetics. The prognostic factors of these patients remain
poorly defined. We aim to study the epidemiology and survival pattern by analyzing
the combination of SEER and Cancer Genome Atlas (TCGA) database. Primary outcome was
overall survival (OS) and disease specific survival (DSS). Between 1973 and 2013,
a total of 1014 patients with PGL or PCC were analyzed. Younger age and female were
associated with better outcomes. The incidence of second primary malignancy in PGL/PCC
patients was about 14.6%. This population had a significant longer DSS. Other factors,
including surgical resection and origin from of aortic/carotid bodies, conferred remarkable
survival advantage. In contrast, distant spread portended worse prognosis. Laterality,
race, positive serum catecholamine marker did not demonstrate a significant association
with OS and DSS. By analyzing TCGA database with total 184 patients were identified.
Eighty out of 184 patients (43.5%) had at least one pathogenic mutation. Female had
higher ratio of pathogenic mutations than male (58.7% vs. 41.3%) and NF1 mutation was associated with elderly population. SHDB mutation had higher percentage in male. Twenty-nine patients (15.8%) had 2 or more
primary. ATRX was the most common oncogenic mutations in metastatic cohort. In conclusion, younger
age, female sex, origin from aortic/carotid bodies, complete surgical resection, regional
disease, as well as concomitant second primary malignancies were associated with better
prognosis. The prognostic value of radiotherapy and oncogenomics warrants further
investigation.
Key word
pheochromocytoma - paraganglioma - SEER database - TCGA database - prognostic factor
