Version June 2024
| Syndrome/name | Gene | Typical tumor location and other associations |
| Pseudo-hypoxic – Cluster 1* | ||
| SDHD mutation (familial paraganglioma type 1)¶ | SDHD | Primarily skull base and neck; occasionally adrenal medulla, mediastinum, abdomen, pelvis; GIST; possible pituitary adenoma |
| SDHAF2 mutation (familial paraganglioma type 2)¶ | SDHAF2 | Primarily skull base and neck; occasionally abdomen and pelvis |
| SDHC mutation (familial paraganglioma type 3) | SDHC | Primarily skull base and neck; occasionally abdomen and pelvis; GIST; possible pituitary adenoma |
| SDHB mutation (familial paraganglioma type 4) | SDHB | Abdomen, pelvis and mediastinum; rarely adrenal medulla, skull base, and neck; GIST; possible pituitary adenoma |
| SDHA mutation | SDHA | Primarily skull base and neck; occasionally abdomen and pelvis; GIST; possible pituitary adenoma |
| VHL disease | VHL | Adrenal medulla, frequently bilateral; occasionally paraganglioma that may be localized from skull base to pelvis |
| Hereditary leiomyomatosis and renal cell carcinoma (Reed syndrome) – Fumarate hydratase mutation | FH | Multifocal and metastatic; associated with hereditary leiomyomatosis, uterine fibroids, and renal cell cancer |
| Hypoxia inducible factor 2-alpha | EPAS1 (HIF2A) | Paraganglioma, polycythemia, and rarely somastostatinoma |
| Familial erythrocytosis associated with mutation in prolyl hydroxylase isoform 1 (PDH1) | EGLN2 | Polycythemia associated with pheochromocytoma and paraganglioma |
| Familial erythrocytosis associated with mutation in prolyl hydroxylase isoform 2 (PDH2) | EGLN1 | Polycythemia associated with pheochromocytoma and paraganglioma |
| Kinesin Family Member 1B gene | KIF1B | Neuroblastoma |
| DNA methyltransferase 3-alpha gene | DNMT3A | Skull base and neck paraganglioma |
| Dihydrolipoamide S-succinyltransferase gene | DLST | PGL7 tumor predisposition syndrome; pheochromocytoma and thoraco-abdominal paragangliomas |
| Succinate-CoA ligase GDP-forming subunit beta gene | SUCLG2 | Paraganglioma |
| Kinase signaling pathway – Cluster 2Δ | ||
| MEN2A and MEN2B | RET | Adrenal medulla, frequently bilateral |
| Neurofibromatosis type 1 | NF1 | Adrenal or peri-adrenal |
| MAX¶ | MAX | Adrenal medulla |
| Familial pheochromocytoma | TMEM127 | Adrenal medulla; possible renal cell carcinoma |
| HRAS proto-oncogene, GTPase | HRAS | |
| Wnt signaling pathway – Cluster 3◊ | ||
| Cold shock domain E1 | CSDE1 | Sporadic, aggressive disease with frequent recurrence and metastases |
| UBTF (Upstream Binding Transcription Factor) fusion with MAML3 (mastermind like transcriptional coactivator 3) | UBTF::MAML3 fusion | Sporadic, aggressive disease with frequent recurrence and metastases |
GIST: gastrointestinal stromal tumor; MEN2: multiple endocrine neoplasia type 2; SDH: succinate dehydrogenase; VHL: von Hippel-Lindau.
* Cluster 1 tumors are mostly extra-adrenal paragangliomas (except in VHL, where most tumors are localized to the adrenal), and nearly all have a noradrenergic biochemical phenotype.
¶ Associated with maternal imprinting.
Δ Cluster 2 tumors are usually adrenal pheochromocytomas with an adrenergic biochemical phenotype.
◊ Cluster 3 tumors can have a noradrenergic or adrenergic biochemical phenotype.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
