Table 1.
Histology and genomic alterations in APC, TP53, and MAPK and PI3K pathway genes as determined by next-generation sequencing in a cohort of patients with urachal cancer and by whole-exome sequencing in the index patient with urachal cancer
| Gene | Frequency (%) | Patients | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Index | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | ||
| TP53 | 80 | W47del a | R213* b | L257Rfs*6 b | H179del a | R248Q c | G266R c | R248W c | R175H c | ||
| APC | 20 | DEL | R1450* | R554* b Q1406Efs*2 b |
|||||||
| KRAS | 20 | G13D c | G12V c | ||||||||
| NRAS | 10 | Q61K c | |||||||||
| RASAL1 | 10 | R342H c | |||||||||
| EGFR | 10 | AMP | |||||||||
| MAP2K1 | 10 | C121S c | |||||||||
| MAP3K19 | 10 | R139Q c | |||||||||
| GNAS | 10 | R201C c | |||||||||
| PIK3CA | 10 | E545K c | |||||||||
| MET | 10 | AMP | |||||||||
| ERBB3 | 10 | P583S c | |||||||||
| ERBB4 | 10 | X497_Splice b | |||||||||
| ERBB2 | 0 | ||||||||||
| HRAS | 0 | ||||||||||
| BRAF | 0 | ||||||||||
| RAF1 | 0 | ||||||||||
| NF1 | 0 | ||||||||||
| Histology | Mucinous | Mucinous | SRC | Mucinous | Mucinous | Enteric | SRC | ADC | Mucinous | Mucinous | |
DEL = deletion; AMP = amplification; SRC = signet ring cell; ADC = adenocarcinoma not otherwise specified.
a
In-frame mutation.
b
Truncating mutation.
c
Missense mutation.