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

From: Genetic characterisation of molecular targets in carcinoma of unknown primary

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   
       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   
       TP53 P152L   0.22   
14 Parotid PD Carcinoma F 76 100 Macro HRAS G13N   0.51 Yes Yes
       HRAS G13S   0.51 Yes Yes
15 Thyroid SCC F 80 100 Macro MLH1 V384D   0.5   
       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   
  1. 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
  2. SCC squamous cell carcinoma, F female, M male, PD poorly differentiated, Ca carcinoma, TS tissue sections, macro macrodissection, LCM laser capture microdissection