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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??