Table 1.

Clinical information of patients with osteochondroma and secondary peripheral chondrosarcoma

Case #	Sample	Age (years)	Gender	Location	EXT mutation analysisa (type of mutation)	Cartilage cap thickness (mm)
L-741	GP	2	M	Femur	–	–
L-996	GP	8	M	Femur	–	–
L-1142	GP	12	F	Tibia	–	–
L-1234	GP	8	F	Femur	–	–
L-298	OC	24	M	Femur	EXT1 exon 3: c.1121 G > A, p.W374X (ns)b	6
L-317	OC	31	M	Tibia	None in EXT1 or EXT2 b	4
L-332	OC	25	M	Femur	None in EXT1 or EXT2 b	5.5
L-523	OC	20	M	Tibia	EXT1 del codon 235–239 (del Pro-Leu-Phe-Ser-Lys)b	5
L-524	OC	26	M	Tibia	EXT1 codon 164 GAC > CAC (Asp > His),exon 1: c.1212 G > C, p. D164Hb	4.5
L-722	OC	15	F	Radius	EXT2 IVS7 + 1 G > Ab	1.5
L-726	OC	6	M	Rib	EXT2 IVS7 + 1 G > A	6
L-841	OC	14	F	Femur	EXT2 deletion exon 6 + 7 (del)b	8
L-1094	OC	6	M	Femur	EXT2 del exon 6 + 7	3
L-1143	OC	39	M	Femur	NA	2
L-2029	OC	23	F	Femur	EXT2 exon 7: IVS7 + 1 G > A	3.5
L-2069	OC	11	M	Tibia	EXT1 exon 1 c.538_539delAG, p.Ser180fsX7b	5.5
L-2160	OC	48	F	Scapula	EXT1 exon1 c.538_539delAG, p.Ser180fsX17	6
L-2350	OC	53	F	Femur	EXT2 exon 7: IVS7 + 1 G > A	1
L-951	PCH	24	M	Fibula	NA	8
L-2117	PCH	37	M	Humerus	EXT1 exon 2: c.1056 + 1 G > A	12
L-114	PCH	39	M	Femur	EXT2 exon 5: 764 T > C, L255P (uv)b	12
L-578	PCH	22	F	Femur	EXT2 deletion exon 6 + 7 (del)	11
L-2254	PCH	33	F	Pelvis	EXT2 exon 6 c.980delG, p.Gly327AlafsX5	8
L-2372	PCH	54	M	Rib	NA	13

GP epiphyseal growth plate, OC osteochondroma, PCH low grade secondary peripheral chondrosarcoma, NA not analysed

^aMutation nomenclature was according to the Nomenclature Working Group [30]; ns non-sense, del deletion, uv unclassified variant, fs frame shift, pm polymorphism

^bResults of mutation previously reported [15, 23, 24]