Metastatic Extramammary Paget’s Disease of Scrotum Responds Completely to Single Agent Trastuzumab in a Hemodialysis Patient: Case Report, Molecular Profiling and Brief Review of the Literature

Table 1

Percent of cases by subtype with biomarker aberration and comparison of total EMPD versus MPD.

Primary tumor site	IHC																ISH			Sequencing
	AR	BCRP	ER	Her2	MGMT	MRP1	PD-1	PD-L1	PDGFR	PR	PTEN^*	RRM1^*	TLE3	TOP2A	TOPO1	TS^*	cMYC	EGFR	Her2	BRCA2	PIK3CA
Anus ()	0%	NT	0%	0%	0%	50%	NT	NT	NT	0%	50%	50%	NT	100%	0%	100%	NT	50%	NT	NT	NT
Scrotum ()	100%	NT	100%	0%	100%	NT	100%	100%	NT	0%	0%	0%	100%	100%	100%	0%	0%	NT	0%	100%	100%
Vulva ()	67%	67%	22%	44%	44%	75%	NT	NT	67%	11%	89%	67%	0%	44%	44%	89%	0%	0%	0%	NT	0%
All EMPD ()	58%	67%	25%	33%	42%	70%	100%	100%	67%	8%	75%	58%	50%	58%	42%	83%	0%	11%	0%	100%	50%
MPD ()	50%	33%	71%	36%	40%	75%	NT	NT	25%	43%	67%	100%	100%	20%	80%	100%	100%	0%	25%	NT	100%

Biomarker and technology used are shown for each subtype, as percent of total cases. A total of EMPDs are also compared to MPD. Percent in each box refers to overexpression of target proteins except for PTEN^*, RRM1^*, and TS^*, where the percent refers to underexpression of the target. Genes in which no mutation was found: ABL1, AKT1, ALK, ATM, BRAF, BRCA1, BRCA2, CDH1, c-KIT, cMET, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FLT3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, JAK2, JAK3, KDR, KRAS, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, STK11, TP53, and VHL.
IHC, immunohistochemistry; ISH, fluorescence in situ hybridization.