Table 2 Pathogenic gene variants identified in each patient based on the different time points of their tumor evolution.
From: Genomic characterization and tumor evolution in paired samples of metaplastic breast carcinoma
Patient ID | Primary tumor (PT) | First tumor recurrence (R1) | Second tumor recurrence/progression (R2) | Third tumor recurrence/progression (R3) |
|---|---|---|---|---|
P1 | MCHMD | MCHMD | – | – |
TP53 (c.625C > T; p.Arg209Trp) TP53 loss | TP53 (c.625C > T; p.Arg209Trp) TP53 loss | – | – | |
P2 | SQCC | SQCC | SQCC | SPCC |
TP53 (c.594G > T; p.Met198Ile) | TP53 (c.594G > T; p.Met198Ile) | TP53 (c.594G > T; p.Met198Ile) MYC amplification PTEN loss | TP53 (c.594G > T; p.Met198Ile) MYC amplification PTEN loss NFIB amplification | |
P3 | SPCC | SPCC + MCHMD | SPCC + MCHMD | – |
TERT (Chr: 5, Position: 1295228C > T) TP53 (c.528_530delinsGCA; p.Cys176_Pro177delinsTrpHis) | TERT (Chr: 5, Position: 1295228C > T) TP53 (c.528_530delinsGCA; p.Cys176_Pro177delinsTrpHis) | TERT (Chr: 5, Position: 1295228C > T) TP53 (c.528_530delinsGCA; p.Cys176_Pro177delinsTrpHis) | – | |
P4 | ICNST | ICNST + SPCC | – | – |
TP53 (c.597_599dup; p.Asn200dup) PTEN loss | TP53 (c.597_599dup; p.Asn200dup) PTEN loss | – | – | |
P5 | ICNST + SPCC | ICNST + MCHMD | – | – |
TP53 (c.206_212dup; p.Leu72PhefsTer40) KRAS gain PBRM1 loss TP53 loss BRCA2 loss | TP53 (c.206_212dup; p.Leu72PhefsTer40) KRAS gain PBRM1 loss TP53 loss BRCA2 loss PMS2 loss | – | – | |
P6 | ICNST | MCHMD | MCHMD | – |
BRCA1 (c.1884_1885insCAGG; p.Arg629GlnfsTer8) TP53 (c.407G > A; p.Arg136His) | BRCA1 (c.1884_1885insCAGG; p.Arg629GlnfsTer8) TP53 (c.407G > A; p.Arg136His) TP53 loss MYC amplification BRCA1 loss | BRCA1 (c.1884_1885insCAGG; p.Arg629GlnfsTer8) TP53 (c.407G > A; p.Arg136His) | – | |
P7 | MCHMD | MCHMD | – | – |
PTEN (c.259C> T; p.Gln87Ter) TP53 (c.902_911del; p.Met301SerfsTer2) PIK3CA amplification ZNF217 amplification MYC amplification PTEN loss | PTEN (c.259C> T; p.Gln87Ter) TP53 (c.902_911del; p.Met301SerfsTer2) PIK3CA amplification ZNF217 amplification MYC amplification PTEN loss | - | – | |
P8 | SPCC | SPCC | SPCC | – |
TERT (Chr: 5, Position: 1295228C > T) TP53 (c.542A > G; p.Tyr181Cys) FGFR1 amplification | TERT (Chr: 5, Position: 1295228C > T) TP53 (c.542A > G; p.Tyr181Cys) PTEN loss | TERT (Chr: 5, Position: 1295228C > T) TP53 (c.542A > G; p.Tyr181Cys) PTEN loss | - |
