Abstract 3881
Background
Esophageal squamous cell carcinoma (ESCC) is one of the most aggressive cancers without effective therapy. To explore therapeutic options, the mutational profile of ESCC tumors has to be elucidated to understand the molecular mechanism of its development and explore targetable mutations. In this study, we aim to elucidate the mutational profile of ESCC patients.
Methods
Capture-based targeted sequencing was performed on tissue samples surgically-removed from 29 early-stage ESCC patients using a 520-gene panel to comprehensively profile the genomic alterations in ESCC. Tumor mutation burden was also estimated for all the samples.
Results
A total of 421 mutations in 39 genes were detected in all the patients, revealing a mutation detection rate of 100%. The mutation types detected in the cohort included 55% single nucleotide variations, 35% copy number amplification and the remaining 10% were small insertion-deletions and large deletions. Except for 1 patient, all of the patients were TP53 mutant. Copy number amplifications (CNA) in CCND1, FGF3, FGF4 and FGF19 were found in 41% (12/29) of the patients, respectively, with all CNA in 4 genes occurring concurrently in all patients. Interestingly, mutations in NFκB1A, previously unreported in ESCC, were detected in 21% (6/29) of the patients. Further analysis reveals mutations in genes involved in pathways including cell cycle, chromatin modification, Notch and JAK-STAT signaling, suggesting that these may be the most critical pathways involved in the development and progression of ESCC. No actionable mutations in receptor tyrosine kinases were detected in our cohort. Instead, potential therapeutic target analysis identified CDKN2A and PIK3CA, with mutation detection rate of 20.7% and 13.8%, respectively, as candidates for targeted therapy. In addition, the median TMB of the cohort was 5.6 mutations/Mb, ranging from 0.8 to 42.9 mutations/Mb.
Conclusions
Our study reveals the comprehensive mutation profile of ESCC tumors, shedding light on potential molecular mechanisms associated with its development and possible therapeutic options for ESCC patients.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
5747 - The routine use of sentinel lymph node biopsy in high risk DCIS lesions is not justified
Presenter: Fanny Preat
Session: Poster Display session 2
Resources:
Abstract
1837 - Oncological impact of re-excision for positive margin status after breast conserving surgery in invasive breast cancer
Presenter: Kenjiro Jimbo
Session: Poster Display session 2
Resources:
Abstract
4347 - Pneumonitis and fibrosis after breast cancer radiation.
Presenter: Jarle Karlsen
Session: Poster Display session 2
Resources:
Abstract
2280 - Prognosis of mastectomy with reconstruction after neoadjuvant chemotherapy: a nationwide study in Korean Breast Cancer Society
Presenter: Sungmin Park
Session: Poster Display session 2
Resources:
Abstract
804 - A negative prognosis of radiotherapy-induced lower lymphocyte to monocyte ratio in patients with breast cancer
Presenter: Chang-ik Yoon
Session: Poster Display session 2
Resources:
Abstract
2701 - Patient data to monitor clinical patterns in early and advanced breast cancer in Europe
Presenter: Francesco Giusti
Session: Poster Display session 2
Resources:
Abstract
1437 - A critical appraisal of quality indicators of breast cancer treatment in Belgium
Presenter: Didier Verhoeven
Session: Poster Display session 2
Resources:
Abstract
1534 - Predictors of adherence among post-menopausal women receiving adjuvant endocrine therapy for breast cancer in Ontario, Canada
Presenter: Phillip Blanchette
Session: Poster Display session 2
Resources:
Abstract
4363 - Evaluation of endocrine therapy and patients preferences in early breast cancer: results of Elena study
Presenter: Emilia Montagna
Session: Poster Display session 2
Resources:
Abstract
2679 - Baseline Quality of life (QoL) and chemotherapy related toxicities (CRT) in localized breast cancer (BC) patients (pts): the French multicentric prospective CANTO cohort study
Presenter: Idlir Licaj
Session: Poster Display session 2
Resources:
Abstract