Abstract 4837
Background
Cholangiocarcinoma (CCA), which includes extrahepatic cholangiocarcinoma (exCCA) and intrahepatic cholangiocarcinoma (iCCA), is a primary malignancy which is often diagnosed as advanced stage and inoperable. The poor sensitivity of clinical diagnosis and lack of effective biomarkers to guide treatment are the main problems to be tackled. Identification of new and effective biomarkers is necessary to assist early diagnosis and prognosis of CCA.
Methods
Deep sequencing targeting 450 cancer genes was performed on FFPE and matching blood samples were collected from 63 CCA patients. Genomic alterations (GAs) including single nucleotide variations, short and long insertions and deletions, copy number variations, and gene rearrangements were analyzed. Tumor mutational burden (TMB) was measured by an algorithm developed in-house. The correlation analysis was performed by One-way ANOVA.
Results
A total of 63 (35 male and 28 female) Chinese CCA patients, including 40 intrahepatic CCA (iCCA) and 23 extrahepatic CCA (exCCA), were analyzed in this study. The most commonly altered genes included TP53 (41.27%, 26/63), KRAS (31.75%, 20/63), ARIK1A and IDH1 (15.87%, 10/63, for both), SMAD4 (14.29%, 9/63), FGFR2 and BAP1 (12.70%, 8/63, for both) and CDKN2A (11.11%, 7/63). The mutation of LRP2 specifically occurred with low frequency (7.5%, 3/40) in iCCA patients. There were 24 patients aged 50 to 70 years, 6 patients aged more than 70 years and 10 patients aged less than 50 years (younger group). Notably, the mutations of LRP2 were detected only in the younger group, and statistical analysis showed the significant correlation between LRP2 and younger iCCA patients (P = 0.02). Also, 2 of the 3 patients with LRP2 mutations harbored high TMB (TMB-H, more than 10 Muts/Mb). Statistical analysis showed a significant association of LRP2 and TMB-H.
Conclusions
The mutation of LRP2 is associated with younger Chinese iCCA patients. The correlation of LRP2 and TMB-H represents a better mutational burden and probably a better prognosis of younger iCCA patients with LRP2 mutations. Our results support that LRP2 may be a potential biomarker for the diagnosis and prognosis of younger Chinese iCCA 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
3349 - Interplay between miR-17-5p and MALAT-1 Shapes The Cytokine Storm in Triple Negative Breast Cancer (TNBC) Tumor Microenvironment
Presenter: Raghda Soliman
Session: Poster Display session 3
Resources:
Abstract
4014 - Clinical verification on the relationship between lipid metabolism and the immune microenvironment of breast cancer
Presenter: Wataru Goto
Session: Poster Display session 3
Resources:
Abstract
4158 - The clinical and transcriptional signatures of human CD204 reveal an applicable marker for tumor associated macrophage in breast cancer
Presenter: Yunjie He
Session: Poster Display session 3
Resources:
Abstract
5392 - Activated effector T cells co-expressing multiple inhibitory receptors (IRs) are enriched in the tumor immune microenvironment in high grade serous ovarian cancer (HGSOC)
Presenter: Alice Bergamini
Session: Poster Display session 3
Resources:
Abstract
2617 - Oncolytic reovirus as a new anti-tumor strategy in castration resistant prostate cancer
Presenter: Yunlim Kim
Session: Poster Display session 3
Resources:
Abstract
2995 - Dysregulation of helper T lymphocytes in esophageal squamous cell carcinoma (ESCC) patients is highly associated with aberrant production of miR-21
Presenter: Ali Memarian
Session: Poster Display session 3
Resources:
Abstract
3597 - Myeloid derived suppressor cells but not regulatory T cells are associated with adaptive immunity and clinical outcomes in anal squamous cell carcinoma
Presenter: Christophe Borg
Session: Poster Display session 3
Resources:
Abstract
3430 - Evaluation of immune responses among responders (R) and non-responders (non-R) in a humanized mouse model with colorectal cancer (CRC) xenografts treated with combination immunotherapy
Presenter: Juan Marín Jiménez
Session: Poster Display session 3
Resources:
Abstract
1995 - ¬¬Advanced melanoma patients with high CD16+ macrophages have better response and survival to anti-PD-1 based immunotherapy
Presenter: Hansol Lee
Session: Poster Display session 3
Resources:
Abstract
3988 - Basal NK activity and early Treg function inhibition predicts Nivolumab responsiveness in metastatic renal cancer patients (REVOLUTION) trial.
Presenter: Sara Santagata
Session: Poster Display session 3
Resources:
Abstract