From: Chapter 1, Genetics of Pheochromocytoma and Paraganglioma
Copyright: The Authors.
Licence: This open access article is licenced under Creative Commons Attribution 4.0 International (CC BY 4.0). https://creativecommons.org/licenses/by-nc/4.0/
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Mariani-Costantini R, editor. Paraganglioma: A Multidisciplinary Approach [Internet]. Brisbane (AU): Codon Publications; 2019 Jul 2. doi: 10.15586/paraganglioma.2019.ch1
Table 1Clinical features of PPGL-associated genes
| Clinical features | Ancillary surveys | ||||||
|---|---|---|---|---|---|---|---|
| PPGL-associated genes | Frequency in cohorts of PPGL (%) | Prototypic tumors and features | Frequency (%) | ||||
| Multifocal tumors | Bilateral PHEO | Metastatic PPGL | Biochemical phenotype | SDHA/B IHC | |||
| VHL | 9.6–17.6 |
| 0–18.8 | 29–43.5 | Rare | NA | +ve/+ve |
| RET | 5.4 |
| Rare | 47–66 | Rare | A | +ve/+ve |
| NF1 | 2.2–2.9 |
| Rare | Rare | 5.4–12 | A | +ve/+ve |
| SDHD | 10.5 |
| 66.9 | Rare | 3.1 | NA; D | +ve/−ve |
| SDHAF2 | <1 |
| 46.8 | NA | Rare | NA, A* | +ve/−ve |
| SDHC | 4 |
| 31.2 | NA | Rare | NA; D | +ve/−ve |
| SDHB | 20.6 |
| 20.8 | Rare | 37.0 | NA; D | +ve/−ve |
| SDHA | 3.0 |
| Rare | Rare | 11.0 | NA; D | −ve/−ve |
| HIF2A | 5.3 |
| 66 | Rare | 18 | NA | +ve/+ve |
| PHD1 | U |
| 100* | U | U | NA | U |
| PHD2 | U |
| 100* | U | U | NA | U |
| MAX | <2 |
| 21 | 66.7–73 | 10.5–25 | NA; NA, A | +ve/+ve |
| TMEM127 | 1.9 |
| Rare | 28.5–37 | Rare | NA, A | +ve/+ve |
| FH | ~1 |
| 30* | U | 30* | NA | +ve/+ve |
| KIF1B | U | U** | U | 66.6* | U | NA* | U |
| MDH2 | U | U† | U† | U | U† | NA† | U |
Abbreviations: −ve: negative; +ve: positive; A: adrenaline; CNS: central nervous system; FH: fumarate hydratase gene; GIST: gastrointestinal stromal tumor; HIF2A: hypoxia-inducible factor 2 alpha gene; IHC: immunohistochemistry; KIF1B:kinesin family member 1B gene; MAX: Myc-associated Protein X gene; MDH2:malate dehydrogenase 2 gene;MEN2A: multiple endocrine neoplasia type 2A; MEN2B: multiple endocrine neoplasia type 2B; MTC: medullary thyroid carcinoma; NA: noradrenaline; NF1: Neurofibromatosis type 1 gene; PGL: paraganglioma; PHD1: prolyl hydroxylase type 1 gene; PHD2: prolyl hydroxylase type 2 gene; PHEO: pheochromocytoma; pHPT: primary hyperparathyroidism; pNET: pancreatic neuroendocrine tumor; PPGL: pheochromocytoma and paraganglioma; RCC: renal cell carcinoma; RET: rearranged during transfection gene; SDHA: succinate dehydrogenase subunit A gene; SDHAF2: succinate dehydrogenase complex assembly factor 2; SDHB: succinate dehydrogenase subunit B gene; SDHC: succinate dehydrogenase subunit C gene; SDHD: succinate dehydrogenase subunit D gene; TMEM127:transmembrane protein 127 gene; VHL: von Hippel–Lindau gene; U: unknown.
- *
Few cases reported (≤10patients).
- **
One patient developed bilateral pheochromocytoma, neuroblastoma, ganglineuroma, and pelvic leiomyosarcoma; one patient developed lung adenocarcinoma.
- †
Only one patient reported to date with multifocal/metastatic paragangliomas.
- Table 1, Clinical features of PPGL-associated genes - ParagangliomaTable 1, Clinical features of PPGL-associated genes - Paraganglioma
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- Gene Links for GEO Profiles (Select 132566712) (1)Gene
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