Table 2.
Gene region alterations in single CTCs and comparison to tissue biopsy whole-exome sequencing (WES).
CTC sequencing | |||||||||||
Number of CTCs detected and single-cell sequenced | |||||||||||
Patient ID | mCRPC | NEPC | |||||||||
Pt 11 | Pt 33 | Pt 37 | Pt 41 | Pt 10 | Pt 12 | Pt 26 | Pt 31 | Pt 35 | Pt 36 | Pt 38 | |
Total CTCs | 164 | 12 | 22 | 25 | 113 | 1365 | 351 | 57 | 38 | 98 | 48 |
CTCs sequenced | 16 | 5 | 9 | 7 | 24 | 49 | 25 | 14 | 11 | 16 | 13 |
Gene regions evaluated, % of CTCs with gene region alteration | |||||||||||
RB1 loss | 47 | 64 | 14 | ||||||||
TP53 loss | 33 | 42 | 55 | 8 | 5 | 45 | 31 | 24 | |||
PTEN loss | 29 | 43 | 45 | 24 | |||||||
AR gain | 83 | ||||||||||
NCOA2 gain | 75 | 33 | 43 | 37 | 71 | 27 | 19 | ||||
MYC gain | 13 | 83 | 67 | 71 | 38 | 65 | 12 | 79 | 73 | 44 | 38 |
AURKA gain | 42 | 29 | 12 | 8 | 36 | 24 | |||||
UBE2C gain | 42 | 14 | 8 | 36 | 24 | ||||||
DLL3 gain | 92 | 21 | 15 | ||||||||
NCOR1 loss | 33 | 29 | 6 | 56 | 79 | 18 | 24 | ||||
ATM loss | 52 | 14 | 13 | ||||||||
BRCA1 loss | 25 | ||||||||||
BRCA2 loss | 25 | 57 | 8 | 5 | 55 | 31 | 4 | ||||
CDKN1B loss | 25 | 65 | |||||||||
CDKN2A loss | 13 | 17 | 71 | 6 | 88 | 36 | |||||
ERF loss | 17 | 71 | 37 | 8 | |||||||
MAP2K4 loss | 33 | 33 | 67 | 12 | 8 | 64 | 19 | 38 | |||
CDH1 loss | 5 | 54 | 36 | 82 | 25 | 62 | |||||
TP53/RB1 loss | 37 | 6 | 14 | ||||||||
TP53/PTEN loss | 43 | 27 | |||||||||
TP53/PTEN/RB1 loss | 14 | ||||||||||
NCOA2/MYC gain | 75 | 33 | 43 | 29 | 5 | 27 | 19 | ||||
AR/NCOA2 gain | 75 | ||||||||||
Tissue whole exome sequencing (WES) | |||||||||||
Tissue WES available | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | No | Yes | No |
AR | na | AMP | na | na | |||||||
RB1 loss | na | Deletion | Deletion | Deletion | Deletion | na | Deletion | na | |||
TP53 loss | na | Deletion | Deletion | Deletion | Deletion | na | Deletion | na | |||
PTEN loss | na | Deletion | na | Deletion | na | ||||||
MYC gain | na | AMP | na | AMP | na | ||||||
Any BRCA1/BRCA2/ATM | na | Deletion | Deletion | Deletion | na | Deletion | na |
Abbreviations. AMP amplification, CTC circulating tumor cell, mCRPC metastatic castration-resistant prostate adenocarcinoma, na not available, NEPC neuroendocrine prostate cancer, Pt patient.