Table 1.

Somatic genetic alterations detected in the metastatic extramammary Paget disease tumor specimen

Gene	Type	Alteration	Location	NCBI Ref. Sequence	Mutant allele frequency	Fold change
PIK3CA	Missense mutation	p.E545K1 (c.1633 G< A)	Exon 10	NM_006218	37.8%	N/A
KMT2C (MLL3)	Splicing mutation	p.X4632_splice (c.13894+2T< C)	Exon 52	NM_170606	29.3%	N/A
HIST1H3D	Missense mutation	p.Y55 N (c.163T< A)	Exon 2	NM_003530	27.5%	N/A
POLE	Missense mutation	p.N1994I (c.5981A< T)	Exon 43	NM_006231	26.5%	N/A
STAT5A	Missense mutation	p.E73K (c.217 G< A)	Exon 4	NM_003152	24.1%	N/A
CDKN2A/B	Whole gene deletion	Deletion	9p21.3	NM_004936	N/A	−2.0
				NM_000077
				NM_058195
PLK2	Intragenic deletion	c.*3334_c.1156+48del	Exons 9-14	NM_006622	N/A	N/A

¹Hotspot mutation.