Table 5: Syndromes related to PHEOs/Paragangliomas. Summary.
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Description: Panas and Remy (1879). Eugen von Hippel (1895) and Arvid Lindau (1926). Infrequent: 1/36,000 population. Autosomal dominant hereditary character. Mechanism detected: VHL gene mutation. Type I (most common form; not PHEO); types IIA and IIB (including PHEO). Lesion in HLD Location Cysts Kidney, adrenal medulla, liver, lung, epididymis, omentum Adenomas Adrenal cortex, liver, kidney, exocrine pancreas Hemangioblastomas Cerebellum, retina, kidney, pancreas Neoplasms PHEO, islet cell tumour, meningioma, renal adenocarcinoma Miscellanea Polycythaemia, syringomyelia, etc. |
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Multiple Endocrine Neoplasia-type II (MEN-2) [29,49] Two subtypes: MEN-2A (Sipple syndrome, 1961) and MEN-2B (1965). Prevalence: 1/40,000. Mechanism detected: RET gene mutation. MEN-2A MEN-2B (marfanoid habitus) Medullary thyroid cancer (100%) Medullary thyroid cancer (100%) PHEO (40-50%) PHEO (50%) Parathyroid hyperplasia (20-30%) Multiple mucosal neuromas (> 95%) |
Neurofibromatosis-type 1 (NF1) [39,50]
Synonymous: Von Recklinghausen disease.
Prevalence: 1/3,000-4,000.
Autosomal dominant hereditary character.
Mechanism detected: NF1 gene mutation.
Clinically, tumours (neurofibromas) form in nerve tissues at the following levels:
a) Deep layer of skin (subcutaneous tissue).
b) Nerves of the brain (cranial nerves) and spinal cord (nerves or spinal pairs).
Carney triad [27,28,49]
Description: Carney (1977).
Prevalence: Unknown.
No inherited cases.
Mechanism detected: Unknown. Genetic defect remains elusive.
Triad: Gastrointestinal stromal tumours (GISTs) + PGs + Pulmonary chondromas.
Others lesions: Oesophageal leiomyomas, adrenocortical adenomas, PHEOs.
Metastasis occurred in 10% of the patients.
Carney-Stratakis Syndrome (CSS) [36,51]
Description: Carney and Stratakis.
Prevalence: < 1/1,000.000 (probably more frequent than Carney triad).
Inherited autosomal dominant.
Mechanism detected: Germinal mutations SDHB, C and D genes, but not KIT or PDFGRA).
Dyad: GISTs + PGs. Not pulmonary chondromas.
PGs: Paragangliomas; PHEOs: Pheochromocytomas.