Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort

Vanni, I.; Pastorino, L.; Andreotti, V.; Comandini, D.; Fornarini, G.; Grassi, M.; Puccini, A.; Tanda, E. T.; Pastorino, A.; Martelli, V.; Mastracci, L.; Grillo, F.; Cabiddu, F.; Guadagno, A.; Coco, S.; Allavena, E.; Barbero, F.; Bruno, W.; Dalmasso, B.; Bellomo, S. E.; Marchiò, C.; Spagnolo, F.; Sciallero, S.; Berrino, E.; Ghiorzo, P.

doi:10.1186/s12967-024-05227-2

Table 1 Enrolled patients’ clinical and demographic characteristics, inclusion criteria and biological sample type analyzed in the study

From: Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort

Patient ID	Age (years)	Sex	Tumor Type	Stage at recruitment	Site of primary	Site of metastasis	Comprehensive genomic profiling	Study inclusion criteria
GE01^●	37	F	Undifferentiated embryonal sarcoma of the liver	IV	Liver	Lung	G, T, LB	3
GE02	38	M	Pancreatic ductal adenocarcinoma	IV	Pancreas	Liver	G, LB	4
GE03	41	F	GI cancer	IV	Unknown (likely gastric or bilio-pancreatic)	Bone, peritoneum	G, T, LB	1, 6
GE04	62	M	Lung atypical carcinoid	IV	Lung	Bone, liver	G, LB	1, 3
GE05	46	F	Breast neuroendocrine carcinoma	III	Breast	–	G, LB	3
GE06^●	85	F	Melanoma	IV	Scalp	Retroauricolar/periauricolar, liver	G, T, LB	1
GE07	32	M	Desmoplastic small round cell tumor	IV	Unknown	Liver, pleura, peritoneum, LN	G, T, LB	1, 3
GE08^●	30	F	Renal carcinoma	IV	Kidney	Bone	G, T, LB	1
GE09	29	M	Thymic carcinoma	IV	Thymo	LN, pleura	G, T, LB	1, 3
GE10^●	48	F	Leiomyosarcoma	IV	Inferior vena cava	Lung, chest	G, T, LB	3, 5
GE11	41	F	Cholangiocarcinoma	IV	Unknown (likely biliary origin)	Liver, LN, peritoneum	G, LB	1, 3
GE12^●	40	F	Renal carcinoma (VHL syndrome)	IV	Pancreas, kidney (bilateral)	Lung	G, T, LB	2, 4
GE13	49	M	Rectal adenocarcinoma	loco-regional recurrence	Rectum	Pre-sacral	G,LB	1
GE14^●	58	F	Melanoma	IV	Leg	Skin, brain	G, T, LB	1
GE15	50	M	Melanoma	IV	Leg	Brain, Skin, Small intestine	G, T, LB	2
GE16	79	F	Melanoma	IV	Leg	Skin	G, T, LB	1
GE17	61	F	Melanoma	IV	Trunk	Lung, breast, LN, mediastinum	G, LB	1
GE18	37	M	Urothelial carcinoma	IV	Bladder	LN, liver	G, LB	4
GE19^●	40	M	GI cancer	IV	Unknown (likely upper GI tract)	Pleuric, mediastinum	G, T, LB	6
GE21	62	F	Pancreatic ductal adenocarcinoma	III	Pancreas	–	G, T, LB	2, 5
GE22^●	70	F	Pancreatic ductal adenocarcinoma	III	Pancreas	–	G, T, LB	2, 5
GE23	34	F	Colon adenocarcinoma	IV	Right colon	Peritoneum, recto-vaginal septum	G, T, LB	5
GE24^●	52	F	Myxofibrosarcoma	IV	Ileo-psoas	Peritoneum, abdominal wall, para-vescical adipose tissue	G, T, LB	3, 5

Enrolled patients and their biological samples analyzed in the study are shown. Patients ID with tumor tissue collected within 4 months from plasma collection are indicated with a black circle. All other tumor tissues are collected more than 4 months prior to plasma collection. The study inclusion criteria are: 1, absence/exhaustion of approved treatment lines or resistant disease; 2, long responding tumor who were deemed fit for other therapies; 3, rare tumor; 4, suspected hereditary cancer; 5, primary tumor with high metastatic potential; 6, metastatic tumor of unknown primary origin
F female, M Male, VHL Von Hippel-Lindau, GI gastro-Intestinal, LN lymph node, G germline, T tumor tissue, LB liquid biopsy

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ISSN: 1479-5876

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