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. 2023 Apr 10;49(3):307–319. doi: 10.1590/S1677-5538.IBJU.2023.0038

Table 1. Transcriptional signature characteristics of hereditary PPGL.

Transcriptional signature
Cluster 1 group (10-15%) Cluster 2 group (50-60%) Cluster 3 group (5-10%)
Cellular response to hypoxia Proteins that activate kinase signaling Via Wnt
Extra-adrenal syndrome + von Hippel-Lindau Adrenal Adrenal + Extra-adrenal
Germline / Somatic Germline / Somatic Somatic
Normetanephrine / 3-Methoxytyramine (3-MT) Normetanephrine + metanephrine or metanephrine only Normetanephrine metanephrine / Chromogranin A
SDHD, SDHC, SDHB, SDHA, SDHA2F, VHL, HIF, FH, EGLN1 (PHD2), EGLN2 (PHD1), KIF 1β, EPAS1/2 (HIF2A), MDH2 RET, NF1, MAX, TMEM127, HRAS CSDE1, MAML3