. Author manuscript; available in PMC: 2016 Jan 22.

Published in final edited form as: Endocr Relat Cancer. 2014 May 23;21(4):567–577. doi: 10.1530/ERC-14-0254

Table 1.

Summary of clinicopathological data

Patient	Sex/age (years)^a	Germline mutations	Somatic mutations	SDHB immunostaining in the tumors	GIST location	PGL location	Pulmonary chondroma (n)
Patients with CT
CT-1	F/25	WT^b	WT^b	Negative	Stomach (25 years) and stomach (53 years)	Carotid body	Three
CT-2	F/15	WT^b	WT^b	Negative	Stomach with liver metastasis	Aortico-pulmonary ganglion	None
CT-3	F/34	WT^b	WT^b	Negative	Stomach with liver metastasis	Upper abdomen	One
CT-4	F/11	WT^b	WT^b	Negative	Stomach	Multiple in abdomen and carotid body	One
Patients with germline SDH mutations
CSS	F/70	SDHB c.220G>A; p.Asp74Asn	Loss of SDHB WT allele	Negative	Jejunum	None	None
PGL1	F/36	SDHD c.209G>T; p.Arg70Met	Loss of SDHD WT allele	Negative	None	Carotid body	None
Patients with sporadic KIT-mutated GISTs
KIT-1	F/80	Not tested	KIT c.1676T>A; p.Val559Asp	Positive	Stomach	None	None
KIT-2	M/63	Not tested	KIT c.1672_1692del; p.Lys558_Asn564del	Positive	Stomach	None	None
KIT-3	F/62	Not tested	KIT c.1669_1674del; p.Trp557_Lys558del	Positive	Duodenum	None	None
KIT-4	M/83	Not tested	KIT c.1676T>A; p.Val559Asp	Positive	Jejunum	None	None
KIT-5	M/75	Not tested	KIT c.1679T>A; p.Val560Asp	Positive	Stomach	None	None

Age at first presentation.

No mutation in the coding regions of SDHA, SDHB, SDHC, and SDHD; no mutations in KIT exons 9, 11, 13, and 17; PDGFRA exons 12, 14, and 18. CT, Carney triad.