Gastrointestinal-type chemotherapy prolongs survival in an atypical primary ovarian mucinous carcinoma: A case report

Table 3 Mutation profiling by next-generation sequencing

Gene	Variation	Mutation	Cervical lymph node	Cervical neoplasm	Peripheral Blood
Tumor-specific mutation
CCNE1	Gene amplification		-	3.1-fold	-
DLL3	Gene amplification		-	3.2-fold	-
KRAS	Gene amplification		5.2-fold	9.8-fold	-
PTK2	Gene amplification		-	2.2-fold	-
RB1	Splice site mutation	c.1421+29_1498+69del	8.5%	52.0%	0.4%
STK11	Single copy deletion		-	Single copy deletion	-
VHL	Single copy deletion		-	Single copy deletion	-
DDR2	Truncation mutation	c.1646C>G(p.S549*)	10.4%	20.8%	0.8%
EPHA3	Missense mutation	c.2515G>A(p.E839K)	-	1.1%	-
ETV6	Missense mutation	c.369G>C(p.Q123H)	14.0%	23.5%	0.9%
GNAS	Missense mutation	c.1984G>A(p.E662K)	13.4%	-	0.6%
TAP1	Missense mutation	c.149C>T(p.P50L)	2.0%	-	-
TP53	Splice site mutation	c.376-1G>A	18.2%	69.9%	0.8%
TP53	Single copy deletion	-	-	Single copy deletion	-
Germline mutation		Mutation
BRCA2	Truncation mutation	c.8629G>T(p.E2877*)
EPCAM	Frameshift mutation	c.843delT(p.G282Efs*21)