Metachronous primary esophageal squamous cell carcinoma and duodenal adenocarcinoma: A case report and review of literature

Table 1 Genetic testing and immunohistochemical data

Gene	Mutant/variation	Plasma	Esophagus	Duodenum	Liver
CDKN2A	c.322G>T (p.D108Y)	-	22.0%	-	-
NF1	c.6173 7127-1115del	9.1%	-	3.2%	0.9%
TP53	c.560-2A>T	0.1%	15.4%	-	-
TP53	c.557 558delinsG	-	13.1%	-	-
APC	Deletion mutation	7.8%	-	8.2%	1.5%
CCND1	Amplification	-	CN:5.1	-	-
FGF19	Amplification	-	CN:4.4	-	-
MDM2	Amplification	-	-	CN:4.4	-
SMAD4	c.456 478dup	23.4%	-	17.1%	5.9%
SMARCA4	c.2506G>T (p.G836*)	-	-	6.9%	-
CREBBP	c.6666 6677del	0.1%	-	-	3.4%
EP300	c.4751 4752delinsAT	-	12.2%	-	-
GATA3	c.527 528delinsAG	-	-	2.1%	-
RPTOR	c.2000T>C (p.L667P)	-	2.3%	-	-
TMBs		5.1/Mb (50.4%)	8.2/Mb (29%)	4.1/Mb (59.3%)	3.1/Mb (68.9%)
Microsatellite analysis		MSS/MSI-L	MSS/MSI-L	MSS/MSI-L	MSS/MSI-L
MMR-related mutations		None	None	None	None
Immunohistochemistry
CR			-
D2-40			-
Ki67			About 67%+		About 70%+
P40			+	-	-
S-100			+
SMA			+
CAM5.2				+
CD56				-
CgA				-
P63				-
Syn				-
CDH17				-
CDX2					Weak +
CK19					+
CK20					-
CK7					+
SATB2					-
TTF					-
Villin					+
Her2			+	+
MLH1			Complete expression	Complete expression
MSH2			Complete expression	Complete expression
MSH6			Complete expression	Complete expression
MSH6			Complete expression	Complete expression
PD-L1			< 1%+	CPS < 1
EBER			-		-
EGFR			3+	2+
VEGF			-	-
CD15			Part+	-	Part-
CD163			+	+	+
CD4			About 5%+	About 8%+	About 10%+
CD68			+	+	+
CD8			About 10%+	About 5%+	About 15%+

CDKN2A: Cyclin-dependent kinase inhibitor 2A; NF1: Neurofibromin 1; TP53: Tumor protein p53; APC: Adenomatosis polyposis coli; CCND1: Cyclin D1; FGF19: Fibroblast growth factor 19; MDM2: Mouse double minute 2; SMAD4: SMAD family member 4; SMARCA4: SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4; CREBBP: Recombinant CREB binding protein; EP300: E1A binding protein p300; GATA3: Recombinant GATA blinding protein 3; RPTOR: Regulatory-associated protein of mTOR; TMBs: Tumor mutational burdens; MSS: Microsatellite stability; MSI-L: Microsatellite instability-low; MMR: Mismatch repair; CR: Calretinin; P40: Protein 40; SMA: Smooth muscle actin; CAM5.2: Cell adhesion molecule 5.2; CD56: Cluster of differentiation 56; CgA: Chromogranin A; CDH17: Cadherin 17; CDX2: Caudal type homeobox 2; CK7: Cytokeratin 7; SATB2: Special AT-rich sequence-binding protein 2; TTF: Thyroid transcription factor; MLH1: MutL homolog 1; MSH2: MutS homolog 2; MSH6: Muts homolog 6; PD-L1: Programmed death-ligand 1; EBER: Epstein barr encoded RNA; EGFR: Epidermal growth factor receptor; VEGF: Vascular endothelial growth factor.