Table 1 Syndromes associated with paraganglioma and pheochromocytoma
From: Use of SDHB immunohistochemistry to identify germline mutations of SDH genes
Syndrome | Gene | Incidence | Clinical syndrome |
|---|---|---|---|
Von Hippel-Lindau syndrome | VHL(3p25) | 1 in 36000 | Retinal/CNS Hemangioblastoma Conventional clear cell renal carcinoma Phaeochromocytomas Endolymphatic sac tumours Pancreatic serous cystadenomas Pancreatic neuroendocrine tumours Epidymal/broad ligament papillary cystadenomas |
Multiple endocrine neoplasia type 2 | RET(10q11.2) | 2.5 per 100 000 | Medullary thyroid carcinoma Phaeochromocytomas Parathyroid hyperplasia |
Neurofibromatosis type 1 | NF1(17q11.2) | 1 in 3000 | Neurofibromas Café au lait spors Gliomas Lisch Nodules |
Paraganglioma Syndrome type 1 (PGL1) | SDHD(11q23) | ??? | Pheochromocytomas/Paragangliomas Most common locations: 1. Head and neck 2. Adrenal 3. Intraabdominal extra-adrenal 4. Thorax Type 2 GIST Renal Tumors |
Paraganglioma Syndrome Type 2 | ??SDHAF2(11q13.1) | Extremely Rare | Head and neck paragangliomas |
Paraganglioma Syndrom Type 3 (PGL3) | SDHC(1q21-23) | ??? (Rare) | Head and neck paragangliomas Renal tumours Type 2 GIST |
Paraganglioma Syndrome Type 4 (PGL4) | SDHB(1p35-36) | ??? | Pheochromocytomas/Paragangliomas Increased risk of malignant behaviour Most common locations: 1. Intraabdominal extra-adrenal 2. Adrenal 3. Head and neck 4. Thorax Renal Tumours Type 2 GIST |
Carney Triad | No known familial case No known mutation | Extremely rare | 1.Paragagnlioma 2. ‘Type 2 Gist’ 3. Pulmonary chondroma 4??Oesophageal leiomyoma?? 5??Adrenal adenoma?? |