Diagnosis of silent pheochromocytoma and paraganglioma

Figures & data

Figure 1. Frequency distribution of adrenal incidentalomas by size (cm); incidentally discovered pheochromocytomas are shown in hatched area.

The dotted line at 3 cm illustrates that at ≤3 cm the prevalence of pheochromocytoma is only 2%, whereas at >3cm the prevalence is 8.3%.

Data taken from [25].

Figure 2. Computed tomography imaging of pheochromocytoma.

(A) Left pheochromocytoma. Abdominal CT scan from an asymptomatic man aged 65 years showing a heterogenous left adrenal mass, 6 cm (arrow). (B) Bilateral pheochromocytoma. Abdominal CT scan from a man aged 35 years with known MEN2, showing a left adrenal mass, 2 cm with density of >25 Hounsfield units (thick arrow), and thickened medial limb of the right adrenal gland (thin arrow).

Figure 3. Three surgical series showing temporal change in the proportion of pheochromocytomas that had been diagnosed on the basis of incidental imaging finding.

Data taken from [3] (closed bars) [4], (open bars) and [5] (hatched bars). Amar et al. [3] had expressed temporal trend by chronological quartiles and these have been approximately re-expressed as decades as shown parenthetically.

Table 1. Genes and clinical features (penetrance) of pheochromocytoma/paraganglioma syndromes.

Syndrome	Gene	PC	PGL	Syndromic features
MEN2	RET	PC (20–50%) Bilateral 50% Malignant 3%		Medullary thyroid cancer (>95%) Hyperparathyroidism (10%)
NF1	NF1	PC (5%) Bilateral 10% Malignant 3%	TAPGL (0.5%)	Neurofibromas Café au lait patches Lisch nodules Optic gliomas Bone dysplasia Peripheral nerve sheath tumors
VHL	VHL	PC (10–30%) Bilateral 40% Malignant 5% Malignant 5%	TAPGL (3%) HNPGL (3%)	Cerebellar hemangioblastoma (60%) Spinal hemangioblastoma (15%) Retinal angioma (40–60%) Renal cell cancer (25%)
PGL1	SDHD^†	PC (24%) Malignant 4% Multifocal 56%	HNPGL (85%) TAPGL (22%)	Renal cell cancer (8%) Pituitary adenoma (?%)
PGL2	SDHAF2^†		HNPGL
PGL3	SDHC	Malignant 0% Multifocal 17%	HNPGL (?%) TAPGL (?%)	Gastrointestinal stromal cell tumor (?%)
PGL4	SDHB	PC (20%) Malignant 30% Multifocal 21%	TAPGL (50%) HNPGL (22%)	Renal cell cancer (14%) Gastrointestinal stromal cell tumor (2%)
−	SDHA	PC (?%)	TAPGL (?%) HNPGL (?%)	Gastrointestinal stromal cell tumor (?%)
−	MAX†	PC (?%) Bilateral 21% Malignant 11%	TAPGL (few)
−	TMEM127	PC (?%) Bilateral 31% Malignant 4%	TAPGL (few) HNPGL (few)

^†Paternal inheritance.

HNPGL: Head and neck PGL; PC: Pheochromocytoma; PGL: Paraganglioma; TAPGL: Thoracoabdominal PGL; VHL: Von Hippel–Lindau.

Data taken from [60–72,78–83].

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