Introduction
Clinical summary
Pathological findings
Molecular genetic profiling
AKT1 | EGFR | GNA11 | KRAS | PIK3CA |
ALK | ERBB2 | GNAQ | MAP2K1 | RAF1 |
AR | ERBB3 | HRAS | MAP2K2 | RET |
BRAF | ERBB4 | IDH1 | MET | ROS1 |
CCND1 | ESR1 | IDH2 | MTOR | SMO |
CDK4 | FGFR1 | JAK1 | MYC | |
CDK6 | FGFR2 | JAK2 | MYCN | |
CTNNB1 | FGFR3 | JAK3 | NRAS | |
DDR2 | FGFR4 | KIT | PDGFRA |
First tumor | Recurrence | Second tumor | Prediction | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Allele frequency (reads) [forward/reverse] | c. HGVS | p. HGVS | Gene | Allele frequency (reads) [forward/reverse] | c. HGVS | p. HGVS | Gene | Allele frequency (reads) [forward/reverse] | c. HGVS | p. HGVS | Mutational effect |
ALK | 100% (8978) [100% (4363)/100% (4615)] | c.4381A > G | p.Ile1461Val | ALK | 100% (8530) [100% (4109)/100% (4421)] | c.4381A > G | p.Ile1461Val | ALK | 100% (6466) [100% (3128)/100% (3338)] | c.4381A > G | p.Ile1461Val | Class 1 (benign) |
DDR2 | 31% (1079) [31% (542)/31% (537)] | c.278C > T | p.Thr93Ile | DDR2 | 26% (862) [26% (430)/27% (432)] | c.278C > T | p.Thr93Ile | DDR2 | 19% (579) [19% (294)/19% (285)] | c.278C > T | p.Thr93Ile | |
EGFR | 29% (1418) [31% (627)/28% (791)] | c.89-10986delT | EGFR | 26% (1358) [29% (591)/24% (767)] | c.89-10986delT | EGFR | 26% (1579) [29% (696)/25% (883)] | c.89-10986delT | ||||
EGFR | 52% (2986) [52% (1465)/51% (1521)] | c.1498 + 22A > T | EGFR | 53% (2637) [54% (1297)/52% (1340)] | c.1498 + 22A > T | EGFR | 34% (1794) [35% (884)/33% (910)] | c.1498 + 22A > T | Class 1 (benign) | |||
ERBB3 | 100% (4558) [100% (2337)/100% (2221)] | c.234 + 8A > T | ERBB3 | 100% (5482) [100% (2817)/100% (2665)] | c.234 + 8A > T | ERBB3 | 100% (5267) [100% (2687)/100% (2580)] | c.234 + 8A > T | ||||
FGFR3 | 100% (4370) [100% (2228)/100% (2142)] | c.1953G > A | p.Thr651= | FGFR3 | 100% (3469) [100% (1794)/100% (1675)] | c.1956G > A | p.Thr652= | FGFR3 | 99% (2811) [100% (1457)/99% (1354)] | c.1956G > A | p.Thr652= | Class 1 (benign) |
FGFR4 | 48% (2725) [49% (1420)/47% (1305)] | c.92-65 T > C | FGFR4 | 51% (3086) [52% (1577)/51% (1509)] | c.92-65 T > C | FGFR4 | 53% (2405) [54% (1231)/53% (1174)] | c.92-65 T > C | ||||
FGFR4 | 49% (1362) [49% (697)/48% (665)] | c.407C > T | p.Pro136Leu | FGFR4 | 50% (1956) [50% (987)/50% (969)] | c.407C > T | p.Pro136Leu | FGFR4 | 48% (1747) [48% (895)/48% (852)] | c.407C > T | p.Pro136Leu | Class 1 (benign) |
FGFR4 | 54% (833) [54% (432)/53% (401)] | c.483A > G | p.Ala161= | FGFR4 | 54% (1041) [54% (537)/54% (504)] | c.483A > G | p.Ala16= | FGFR4 | 55% (1115) [55% (573)/56% (542)] | c.483A > G | p.Ala161= | |
FGFR4 | 46% (265) [48% (141)/45% (124)] | c.2016-43C > A | FGFR4 | 45% (365) [47% (190)/44% (175)] | c.1896-43C > A | FGFR4 | 50% (462) [52% (237)/49% (225)] | c.1896-43C > A | ||||
FGFR4 | 48% (272) [50% (137)/47% (135)] | c.2016-8A > G | FGFR4 | 48% (374) [52% (185)/45% (189)] | c.1896-8A > G | FGFR4 | 53% (475) [56% (233)/50% (242)] | c.1896-8A > G | ||||
IDH1 | 46% (5687) [46% (2808)/46% (2879)] | c.395G > A | p.Arg132His | IDH1 | 48% (5691) [48% (2838)/48% (2853)] | c.395G > A | p.Arg132His | IDH1 | – | – | – | Class 5 (pathogenic) |
KIT | 48% (4257) [47% (2140)/49% (2117)] | c.67 + 4913A > G | KIT | 48% (3192) [47% (1615)/48% (1577)] | c.67 + 4913A > G | KIT | 46% (2393) [45% (1213)/46% (1180)] | c.67 + 4913A > G | ||||
KIT | 23% (2198) [23% (1076)/23% (1122)] | c.67 + 4923delA | KIT | 21% (1505) [21% (742)/21% (763)] | c.67 + 4923delA | KIT | 22% (1249) [23% (615)/22% (634)] | c.67 + 4923delA | ||||
KIT | 43% (4173) [37% (1745)/49% (2428)] | c.67 + 4953dupA | KIT | 43% (3102) [37% (1306)/49% (1796)] | c.67 + 4953dupA | KIT | 42% (2340) [36% (995)/47% (1345)] | c.67 + 4953dupA | ||||
KIT | 100% (9294) [100% (4544)/100% (4750)] | c.756 + 334G > A | KIT | 100% (7169) [100% (3547)/100% (3622)] | c.756 + 334G > A | KIT | 100% (5445) [100% (2678)/100% (2767)] | c.756 + 334G > A | ||||
KIT | 50% (4812) [50% (2414)/50% (2398)] | c.2362-333A > T | KIT | 50% (4707) [50% (2358)/50% (2349)] | c.2362-333A > T | KIT | 50% (4102) [50% (2048)/50% (2054)] | c.2362-333A > T | ||||
KRAS | 51% (1012) [51% (496)/52% (516)] | c.-11-1877C > A | KRAS | 44% (859) [43% (418)/44% (441)] | c.-11-1877C > A | KRAS | 50% (1081) [50% (539)/50% (542)] | c.-11-1877C > A | ||||
KRAS | 50% (6037) [50% (3022)/51% (3015)] | c.111 + 6969C > G | KRAS | 46% (4123) [46% (2061)/46% (2062)] | c.112-3079C > G | KRAS | 49% (3521) [49% (1762)/49% (1759)] | c.112-3079C > G | ||||
PDGFRA | 100% (6940) [100% (3405)/100% (3535)] | c.1701A > G | p.Pro567= | PDGFRA | 100% (7371) [100% (3629)/100% (3742)] | c.1701A > G | p.Pro567= | PDGFRA | 100% (6090) [100% (3020)/100% (3070)] | c.1701A > G | p.Pro567= | Class 1 (benign) |
PIK3CA | 12% (2249) [12% (1141)/12% (1108)] | c.2119G > A | p.Glu707Lys | PIK3CA | 12% (1979) [12% (1004)/12% (975)] | c.2119G > A | p.Glu707Lys | PIK3CA | 12% (1470) [12% (751)/11% (719)] | c.2119G > A | p.Glu707Lys | Class 3 (uv) |
PIK3CA | 23% (4396) [23% (2182)/23% (2214)] | c.2155C > G | p.Leu719Val | PIK3CA | 22% (3717) [22% (1846)/23% (1871)] | c.2155C > G | p.Leu719Val | PIK3CA | 22% (2822) [22% (1395)/23% (1427)] | c.2155C > G | p.Leu719Val | Class 2 (likely benign) |
PIK3CA | 24% (4435) [24% (2215)/23% (2220)] | c.2187 + 1G > T | PIK3CA | 23% (3688) [22% (1804)/23% (1884)] | c.2187 + 1G > T | PIK3CA | 23% (2813) [23% (1380)/23% (1433)] | c.2187 + 1G > T | Class 3 (uv) | |||
RET | 50% (3715) [51% (1930)/48% (1785)] | c.2307G > T | p.Leu769= | RET | 50% (3281) [51% (1692)/49% (1589)] | c.2307G > T | p.Leu769= | RET | 13% (406) [13% (209)/13% (197)] | c.2307G > T | p.Leu769= | Class 1 (benign) |