Genetic characterisation of molecular targets in carcinoma of unknown primary

Table 2 Clinicopathological and genetic characteristics of the 17 cases with biologically relevant or actionable variants

Sample ID	Anatomical location	Morphology	Gender	Age	% of tumour cellularity	Sampling method	Gene	Amino acid change	Copy number detected	Allele ratio	Detected by both Panels	Actionable target
1	Lymph node (cervical)	SCC	F	62	80	TS	TP53	G245D		0.79
							CCND1		12.31			Yes
							FGFR1		8.31			Yes
							MYC		10			Yes
2	Lymph node (inguinal)	SCC	M	67	90	TS	TP53	I195N		0.13
3	Lymph node (inguinal)	SCC	F	51	100	Macro	CDKN2A	D74N		0.35
3							PIK3CA	E545K		0.17	Yes	Yes
4	Lymph node (mesenteric)	PD Carcinoma	F	81	100	LCM	BRAF	V600E		0.22	Yes	Yes
5	Maxillary sinus	SCC	F	79	90	TS	TP53	R248W		0.23
							TP53	P177L		0.29
							ERBB2	S310F		0.28		Yes
6	Parotid	SCC	M	54	100	Macro	TP53	E286K		0.08
7	Skin	Neuroendocrine Ca	F	81	95	TS	MET	R988C		0.4		Yes
8	Submandibular gland	SCC	M	81	95	TS	MYC		6.97			Yes
9	Bone	PD Carcinoma	F	80	50	TS	MET	T1010I		0.49	Yes	Yes
10	Bone	Adenocarcinoma	M	71	100	LCM	KRAS	G12D		0.67	Yes	Yes
11	Lymph node (axillary)	Adenocarcinoma	F	82	80	TS	TP53	Q165Ter		0.51
12	Omentum	Adenocarcinoma	F	68	100	LCM	TP53	R175H		0.75
13	Parotid	SCC	M	79	100	Macro	TP53	S241F		0.28
13							TP53	P152L		0.22
14	Parotid	PD Carcinoma	F	76	100	Macro	HRAS	G13N		0.51	Yes	Yes
14							HRAS	G13S		0.51	Yes	Yes
15	Thyroid	SCC	F	80	100	Macro	MLH1	V384D		0.5
15							BRAF	V600E		0.12	Yes	Yes
16	Brain	PD Carcinoma	M	74	80	TS	KRAS	G12A		0.61	Yes	Yes
17	Liver	PD Carcinoma	F	66	80	TS	TP53	R175H		0.57

Characteristics of the CUP cases includes the sample ID, anatomical location where the CUP originated from, the histopathological morphology of the specimen, the gene the variant was detected in, the protein change, total number of gene copies detected, the allele ratio of single nucleotide variants (SNVs), and whether the variant identified was actionable
SCC squamous cell carcinoma, F female, M male, PD poorly differentiated, Ca carcinoma, TS tissue sections, macro macrodissection, LCM laser capture microdissection