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Whole exome sequencing and deep sequencing of esophageal squamous cell carcinoma and adenocarcinoma in Japanese patients using the Japanese version of the Genome Atlas, JCGA
Ist Teil von
Esophagus : official journal of the Japan Esophageal Society, 2021-10, Vol.18 (4), p.743-752
Ort / Verlag
Singapore: Springer Singapore
Erscheinungsjahr
2021
Link zum Volltext
Quelle
SpringerLink (Online service)
Beschreibungen/Notizen
Background
Recent comprehensive mutation analyses have revealed a relatively small number of driver mutations in esophageal cancer, implicating a limited number of molecular targets, most of which are also implicated in squamous cell carcinoma.
Methods
In this study, we investigated genetic alterations in 44 esophageal squamous cell carcinomas (ESCC) and 8 adenocarcinomas (EAC) from Japanese patients as potential molecular targets, based on data from the Japanese version of The Genome Atlas (JCGA).
Results
Esophageal cancer was characterized by
TP53
somatic mutations in ESCC (39/44, 88.6%) and EAC (5/8, 62.5%). In addition to
TP53
mutations, somatic mutations in
NFE2L2
(16/44, 36.4%),
CDKN2A
(7/44, 15.9%), and
KMT2D
(7/44, 15.9%) were more frequently detected in ESCC than in EAC.
WRN
-truncated type mutations that lead to genomic instability correlate with EAC, but not ESCC. ESCC samples were enriched in
ALDH2
-associated mutational signature 16 as well as the APOBEC signature. Patients with
FAT2
mutations had significantly poorer overall survival compared with those with wild-type status at
FAT2
(
p
< 0.05). Patients with
EP300
or
PTPRD
mutations also had poor progression-free survival compared with respective wild-types (
p
< 0.05 or
p
< 0.001).
Conclusions
These findings may facilitate future precision medicine approaches based on genomic profiling in ESCC and EAC.