Table 2.

Molecular and Key Immunophenotypic Features of SEGA-like astrocytomas

CASE	age	sex	NF1 status	ALT	ATRX IHC	DAXX IHC	NF1	ATRX	DAXX	Gene variants of interest
1	20	F	NF1	neg	retained	retained	NF1 p.L180Yfs	WT	WT	BRCA1, FANCC, KMT2D, MAGEA1, RPN1, SMO, TAF1, XPC
2	15	M	NF1	Positive	retained	retained	NF1 p.T2423Nfs	WT	WT	EPHB6, KMT2D, NTRK3, PDE4DIP, PDGFRB, PTPN6, RECQL4, RPN1, RPTOR, TSC2
3	17	M	NF1	neg	retained	retained	NF1 p.Y2171X	WT	WT	ALK, DCC, FN1, RNF213, SMARCA4
4	24	F	NF1	Positive	retained	retained	NF1 p.G1190Afs	WT	WT	CCT6B, FOXO3, MKI67, MSH3, NSD1, PASK, RB1, SMARCA1
5	53	F	NF1	neg	retained	NP	NF1 p.Y2264Tfs and NF1 p.G1219R	ATRX p.N1214I	WT	ARID1B, BCOR, CCT6B, DDX10, FN1, FOXO3, KMT2C, MAGEA1, NSD1, PARP1, PASK, PDE4DIP, SAMD9, STK36, XPC
6	20	F	NF1	Positive	retained	retained	NF1 splice mutation (c.3198-2A>G)	WT	WT	ASMTL, DTX1, FANCD2, FANCF, FANCG, FN1, FOXO3, GNAS, KMT2D, NOTCH1, PASK, PDE4DIP, RECQL4, SAMD9, SPEN
7	25	M	NF1	Positive	retained (but aberrant pattern)	retained	NF1 p.L2323X	ATRX p.N1860S (100% VAF)	WT	ARID1B, BCORL1, DTX1, KMT2C, KMT2D, NOTCH4, PDE4DIP, SMO
8	9	M	NF1	neg	retained	NP	NF1 p.R720Gfs	WT	WT	AKAP9, ASXL1, BLM, CASP8, DDX10, NOTCH1, PASK, PDE4DIP
9	35	M	Sporadic	neg	retained	retained	WT1	WT	WT	AKAP9, ASMTL, FGFR4, IGF2R, KMT2C, NOTCH1, NOTCH2, PER1, RPTOR, TAF1L, TSC2, WRN
10	46	F	NF1	neg	Failed	NP	Failed	Failed	Failed	Failed
11	4	F	NF1	neg	NP	NP	Failed	Failed	Failed	Failed
12	49	F	NF1	Neg	equivocal	NP	Failed	Failed	Failed	Failed
13	25	F	NF1	neg	retained	NP	NF1 p.S285Qfs1	WT	WT	ARHGAP26, BRCA2, EPHB6, KMT2D, NCOR1, SPEN, STK36
14	60	F	Sporadic	neg	retained	retained	NF1 p.R815Gfs1	WT	WT	BCORL1, BRCA2, CASP8, IDH1, MKI67, NCOR1, PER1, TAF1

NP, not performed; WT, wild type;

¹These cases had additional changes consistent with NF1 copy number loss