Genomic Features and Clinical Characteristics of Adolescents and Young Adults With Cholangiocarcinoma

Feng, Hao; Tong, Huan; Yan, Jiayan; He, Min; Chen, Wei; Wang, Jian

doi:10.3389/fonc.2019.01439

Cited by 21 publications

(34 citation statements)

References 29 publications

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“…Feng et al. 13 showed that young patients with CCA had more frequent mutations in ASXL1, lysine N-methyltransferase 2C, and ERBB3 , but mutations in these genes were not common in the present study.…”

Section: Discussioncontrasting

confidence: 72%

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Mutation spectrum associated with metastasis of advanced cholangiocarcinoma

2022

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Background The mutations associated with metastasis in advanced-stage cholangiocarcinoma (CCA) have not been investigated. Objective To explore mutations in patients with advanced CCA and independent factors related to metastasis. Methods This retrospective study performed next-generation sequencing of tumor specimens from patients with advanced CCA treated between January 2017 and December 2019. Tumor mutational burden (TMB), microsatellite instability, and programmed cell death ligand (PD-L)1 positivity were determined. Factors independently associated with metastasis were explored via logistic regression. Results Ninety-one patients were included in this study. TP53 mutation frequencies were significantly higher in extrahepatic than intrahepatic CCA, while ARID1A mutations were significantly more frequent in intrahepatic CCA. Mutation frequencies in six selected genes did not differ according to patient age or sex. SMAD4 mutations were significantly less frequent in stage IV cancer; ARID1A and PBRM1 mutation frequencies were significantly higher in TMB >10 tumors. PBRM1 mutation frequencies were significantly higher in PD-L1-positive tumors, but lower in patients with metastasis. Multivariable analysis showed that a history of biliary surgery, SMAD4 mutations, and PBRM1 mutations were independently associated with CCA metastasis. Conclusions A history of biliary surgery and mutations in SMAD4 and PBRM1 are independent protective factors for metastasis in patients with advanced CCA.

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Section: Discussioncontrasting

confidence: 72%

“…Moreover, Feng et al. 13 showed that microsatellite instability (MSI) was only found in CCA in older patients, and identified mutations specific to CCAs in young adults. Nevertheless, no study to date has examined the mutations found in patients with advanced-stage CCA or those associated with metastasis.…”

Section: Introductionmentioning

confidence: 99%

Mutation spectrum associated with metastasis of advanced cholangiocarcinoma

2022

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“…[ 33 , 34 ] For instance, most patients with early-onset (age <50 years) disease present with a lower prevalence of microsatellite instability and an enhanced frequency of KMT2C and ASXL1 mutations in comparison with late-onset patients. [ 35 ] Although to date, there remains an insufficient explanation for this issue, we hope there will be more research following our results, and we will also perform research on this mechanism.…”

Section: Discussionmentioning

confidence: 79%

Analysis of metastasis and survival between extrahepatic and intrahepatic cholangiocarcinoma

et al. 2021

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To date, extrahepatic cholangiocarcinoma (ECCA) and intrahepatic cholangiocarcinoma (ICCA) have rarely been compared; therefore, we attempted to learn more about the rates of metastasis and survival in both ICCA and ECCA. Data of patients in the SEER database diagnosed with ICCA or ECCA were extracted to analyse the rate of metastasis and survival. Univariate and multivariate logistic regression analyses were performed to identify the risk factors for metastasis. Propensity score matching (PSM) was used to compare survival rates between ECCA and ICCA. Data from a total of 15,751 patients diagnosed with ICCA or ECCA were extracted to analyse the rate of metastasis. Metastasis was more common in ECCA than ICCA (42.62% vs. 31.46%, P < .05), while ICCA in the T1 stage had a lower rate of metastasis (25.35% vs. 30.61%, P < .05). Age, pathology grade, tumour size, lymph node metastasis and T stage were independent risk factors for metastasis in both ECCA and ICCA. There was an inverse correlation between age and metastasis in both ICCA and ECCA. Moreover, PSM demonstrated that patients with ECCA had a better prognosis than patients with ICCA. Patients with ICCA in the T1 stage had better survival than those with ECCA in the T1 stage. Our study was the first to compare the rates of metastasis and survival between ECCA and ICCA. We observed an inverse association between age and metastasis, that patients with ECCA had a better prognosis than patients with ICCA, and that patients with ECCA in the T1 stage had worse survival than patients with ICCA in the T1 stage.

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“…78 Finally, loss of function mutations in ASXL1 have been reported in 11% of CCA patients, causing a decreased PRC2 occupancy and dysregulation of PRC-mediated gene silencing. 79 Of note, although tumors with mutations in ARID1A, PBRM1, and SMARCA4 were primarily dependent on EZH2 HMT activity, EZH2 catalytic inhibitors may not fully suppress the oncogenic activity of EZH2. 71…”

Section: Mutations In Chromatin Remodeling Complexes and Histone Modi...mentioning

confidence: 99%

Involvement of Epigenomic Factors in Bile Duct Cancer

Rogalska-Taranta

Andersen

2022

Semin Liver Dis

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Cholangiocarcinoma (CCA) is the second most common type of primary liver cancer. Due to its often-silent manifestation, sporadic nature, and typically late clinical presentation, it remains difficult to diagnose and lacks effective nonsurgical therapeutic options. Extensive research aiming in understanding the mechanisms underlying this disease have provided strong evidence for the significance of epigenetics contributing to its onset, progression, and dissemination. This dysregulation in a myriad of signaling pathways, leading to malignancy, spans altered deoxyribonucleic acid and histone methylation, histone acetylation, and chromatin remodeling, as well as genetic modifications in essential genes controlling these epigenetic processes. An advantage to epigenetic modifications is that they, compared with mutations, are reversible and can partially be controlled by inhibiting the responsible enzymatic machinery. This opens novel possibilities for developing new treatment modalities with benefit for CCA patients.In this article, we have reviewed the current status of epigenome modifications described in CCA, including the role of posttranslational histone modifications and chromatin remodeling, as well as novel advances in treatment options.

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Genomic Features and Clinical Characteristics of Adolescents and Young Adults With Cholangiocarcinoma

Cited by 21 publications

References 29 publications

Mutation spectrum associated with metastasis of advanced cholangiocarcinoma

Mutation spectrum associated with metastasis of advanced cholangiocarcinoma

Analysis of metastasis and survival between extrahepatic and intrahepatic cholangiocarcinoma

Involvement of Epigenomic Factors in Bile Duct Cancer

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