Table 1.

LOH and Clonality Analyses of TSC Lesions^[Note]

				Allele Status at
Patient (Sex)	Inheritance	Germline Mutation	TumorType	D16S663	D16S665	Kg8	Exon 40	TSC2GLM	D16S525	D9S2126	D9S1830	TSC1GLM	D9S1199	D9S1198	Clonality
1 (F)	Sporadic	TSC1, exon 15 (1711delTG,V497fs→503X)	UF	NI	NI	H	H	NA	NI	H	H	H	H	NI	NI
2 (F)	Sporadic	TSC1, exon 15 (2148C→T, Q655X)	AML	H	NI	H	NI	NA	NI	NI	H	LOHa	LOH	LOH	C
3 (M)	Sporadic	TSC1, exon 15 (2104T→A, L628X)	SEGA	H	NI	NI	NI	NA	NI	H	H	Ha	H	H	NA
4 (F)	Familial	TSC2, intron 1, splice donor (138+1G→A)	SEGA	H	H	NI	LOH	LOHa	LOH	NI	H	NA	NI	H	NT
5 (F)	Sporadic	TSC2, exon 30, 3685–3700del (Q1229fs→1296X)	Rhabdo	NI	H	NI	NI	H	NI	H	NI	NA	NI	H	NI
6 (M)	Sporadic	TSC2, exon 12 (1348G→T, E450X)	Rhabdo	H	NI	NI	NI	Ha	NI	NI	H	NA	H	H	NA
7 (F)	Sporadic	TSC2, exon 36 (4743delC, L1581fs→158Xb)	AML	H	H	H	NI	NAc	LOH	H	H	NA	H	H	C
8 (F)	Familial	TSC2, exon 19 (2109G→A, W703X)	LAM 1	H	H	H	NI	Ha	NI	H	NI	NA	H	H	P
			LAM 2	H	H	H	NI	Ha	NI	H	NI	NA	H	H	P
			LAM 3	H	H	H	NI	Ha	NI	H	NI	NA	H	H	P
9 (F)	Sporadic	TSC2, exon 33 (4207delG, D1400fs→1410X)	AML 1	NI	LOH	LOH	NI	LOH	NI	NI	H	NA	H	NI	C
			AML 2	NI	H	H	NI	H	NI	NI	H	NA	H	NI	P
			Tuber 1	NI	H	H	NI	H	NI	NI	H	NA	H	NI	C
			Tuber 2	NI	H	H	NI	H	NI	NI	H	NA	H	NI	P
			Tuber 3	NI	H	H	NI	H	NI	NI	H	NA	H	NI	P
			Tuber 4	NI	H	H	NI	H	NI	NI	H	NA	H	NI	P
			Tuber 5	NI	H	H	NI	H	NI	NI	H	NA	H	NI	S
			SEGA 1	NI	H	H	NI	H	NI	NI	H	NA	H	NI	S
			SEGA 2	NI	H	H	NI	H	NI	NI	H	NA	H	NI	P
			UF	NI	H	H	NI	H	NI	NI	H	NA	H	NI	C
			GP	NI	H	H	NI	H	NI	NI	H	NA	H	NI	P
10 (F)	Sporadic	Not detected	AML 1	LOH	LOH	NI	NI	NA	LOH	H	H	NA	NI	H	P
			AML 2	LOH	LOH	NI	NI	NA	LOH	H	H	NA	NI	H	C
			AML 3	LOH	LOH	NI	NI	NA	LOH	H	H	NA	NI	H	P

Note.— Rhabdo = cardiac rhabdomyoma; GP = gastric polyp; GLM = germline mutation point; NI = not informative; H = heterozygous; NA = not applicable; NT = not tested owing to sample quantity; C = clonal; P = polyclonal; S = significantly skewed toward one allele.

^aAllelic status at the GLM was assessed by SSCP/sequencing, and only definite losses were scored as LOH; the remaining cases are scored as H, since allelic loss can be ambiguous if determined by SSCP or sequencing analysis.

^bSomatic mosaicism.

^cOwing to mosaicism.