Table 2 Variant details and tumor mutational burden.

Case	TMB	SNVs and structural variants
1m1	9.9	FH (p.A393_V394del)
1m2	8.4	FH (p.A393_V394del)
1m3	7.6	FH (p.A393_V394del)
1m4	8.4	FH (p.A393_V394del)
2	3.0	FH (p.R233H)
3	3.0	FH donor splice site mutation
		TP53 p.C275S
		TP53 splice site mutation
4	8.4	FH (p.E432Kfs17)*
		BRAF (p.G469V)
5	6.1	CTNNB1 (p.D32N)
		NF1 (p.S361I)
6m1	3.0	CTNNB1 (p.A43_P52del)
6m2	3.0	CTNNB1 (p.A43_P52del)
7	3.8	CTNNB1 (p.D32V)
8	3.0	CTNNB1 (p.H36_T42delinsP)
9	3.8	APC (p.R1386_V1390del)
10	6.1	NF2 c.1122+1G>T ()
		CHEK2 (p.I157T)
11	3.0	MBD4 c.1562-1G>T
		AC096669.2 intron 2 -ARID1 B intron 4 rearrangement
12^a	*	None
13	11.4	None
14	3.8	None
15	4.6	None
16^b	Low DNA/fail	N/A
17^b	Low DNA/fail	N/A
18^b	Low DNA/fail	N/A
19	6.1	CTNNB1 (p.S37A)
20	3.0	CTNNB1 (p.T41A)
21	7.6	CTNNB1 (p.I35S)
22	3.8	CTNNB1 (p.G34R)
23	3.0	None
24	5.3	None
25	3.0	None
26	3.8	None

Cases with metastases (m) are listed in chronologic order. SNVs listed here include those not recurrently seen in the series. *The TMB cannot be accurately determined in this case given the borderline QC metrics.
TMB tumor mutational burden (per megabase), SNVs single nucleotide variants.
^aAverage number of reads = 49 (borderline QC metrics).
^bFailed next-generation sequencing or low DNA content.

Quick links

Search