Table 3.

Tumour type, symptoms, and hormone secretion in tumours with SDHB or SDHC variants.

Family (variant)	Individual	Diagnosis	Symptoms at diagnosis	Pressure symptoms	Hypertension	Headache	Perspiration	Nausea	Palpitation	Dizziness	Flushing	Weight loss	Paleness	Anxiety	NA	Hormone secreted at diagnosis
B1 (c.287-?_540+?del/deletion of exon 4 and 5)	F1	PGL													X	NAa
	M1	PGL		X	X	X	X	X								Noradrenaline (P)
B3 (c.3G>A,p.Met1? in exon 1)	F1	PGL		X		X										NA
	F6	PGL		X	X		X		X	X	X					Chromogranin A (P)
	M3	PGL		X												Noradrenaline (U) Adrenaline (U) Metanephrines (P)
B4 (c.3G>A,p.Met1? in exon 1)	M2	PGL		X	X		X					X				Chromogranin (P) Noradrenaline (P, U)
B5 (c.203G>A, Cys68Tyr in exon 3)	F2	PCC			X		X									Noradrenaline (U)
		PGL													X	Normetanephrine (P)
Bx (c.424-19_424-19dup in intron 4)	F2	PCC				X		X	X				X			Adrenaline (P)
Bx (c.487T>C, p.Ser16Pro in exon 5)	F5	PCC		X												NA
C (c.148C>T, pArg50Cys in exon 3)	M1	PGL													X	Chromogranin A (P)
	M2	PGL		X												-
C (c.191_207del in exon 4)	F3	PGL		X			X							X		Noradrenaline (U) Chromogranin A (P)
C (c.496C>G, p.Leu166Val in exon 6)	M4	Paraganglioma		X												NAb

None of the SDHA or SDHD variant positive individuals displayed symptoms at PPGL diagnosis. No hormones were detected biochemically for the SDHA variant positive patient and these data were not available for the SDHD variant positive patients.

^aPatient B1F.1 was not tested for catecholamines but experienced palpitations in relation to the biopsy procedure suggested catecholamine secretion by the tumour; ^bPatient C M.4 was not tested for catecholamines prior to surgery but had a sudden blood pressure increase during surgery indicative of catecholamine secretion by the tumour.

F, female; M, male; NA, not available; P, plasma; PCC, phaeochromocytoma; PGL, paraganglioma; SDH, succinate dehydrogenase; U, urine.