scholarly journals P8‐57: Current status of cancer genome profiling tests for thoracic malignancies

Respirology ◽  
2021 ◽  
Vol 26 (S3) ◽  
pp. 309-309
Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 252
Author(s):  
Shunsuke Kato

The prognosis of patients with solid tumours has remarkably improved with the development of molecular-targeted drugs and immune checkpoint inhibitors. However, the improvements in the prognosis of pancreatic cancer and biliary tract cancer is delayed compared to other carcinomas, and the 5-year survival rates of distal-stage disease are approximately 10 and 20%, respectively. However, a comprehensive analysis of tumour cells using The Cancer Genome Atlas (TCGA) project has led to the identification of various driver mutations. Evidently, few mutations exist across organs, and basket trials targeting driver mutations regardless of the primary organ are being actively conducted. Such basket trials not only focus on the gate keeper-type oncogene mutations, such as HER2 and BRAF, but also focus on the caretaker-type tumour suppressor genes, such as BRCA1/2, mismatch repair-related genes, which cause hereditary cancer syndrome. As oncogene panel testing is a vital approach in routine practice, clinicians should devise a strategy for improved understanding of the cancer genome. Here, the gene mutation profiles of pancreatic cancer and biliary tract cancer have been outlined and the current status of tumour-agnostic therapy in these cancers has been reported.


2021 ◽  
Vol 32 ◽  
pp. S322
Author(s):  
Nobuhiro Shibata ◽  
Shogen Boku ◽  
Yoshimi Shinomiya ◽  
Hironaga Satake

Author(s):  
Serena Nik-Zainal ◽  
Yasin Memari ◽  
Helen R. Davies

Database ◽  
2020 ◽  
Vol 2020 ◽  
Author(s):  
Paula Carrio-Cordo ◽  
Elise Acheson ◽  
Qingyao Huang ◽  
Michael Baudis

Abstract Cancers arise from the accumulation of somatic genome mutations, which can be influenced by inherited genomic variants and external factors such as environmental or lifestyle-related exposure. Due to the heterogeneity of cancers, precise information about the genomic composition of germline and malignant tissues has to be correlated with morphological, clinical and extrinsic features to advance medical knowledge and treatment options. With global differences in cancer frequencies and disease types, geographic data is of importance to understand the interplay between genetic ancestry and environmental influence in cancer incidence, progression and treatment outcome. In this study, we analyzed the current landscape of oncogenomic screening publications for geographic information content and quality, to address underrepresented study populations and thereby to fill prominent gaps in our understanding of interactions between somatic variations, population genetics and environmental factors in oncogenesis. We conclude that while the use of proxy-derived geographic annotations can be useful for coarse-grained associations, the study of geo-correlated factors in cancer causation and progression will benefit from standardized geographic provenance annotations. Additionally, publication-derived geographic provenance data allowed us to highlight stark inequality in the geographies of cancer genome profiling, with a near lack of sizable studies from Africa and other large regions.


Haigan ◽  
2021 ◽  
Vol 61 (7) ◽  
pp. 939-945
Author(s):  
Ryoko Inaba Higashiyama ◽  
Tatsuya Yoshida ◽  
Masayuki Shirasawa ◽  
Sayaka Arakawa ◽  
Yuki Shinno ◽  
...  

2021 ◽  
Vol 32 ◽  
pp. S326
Author(s):  
Shusei Tominaga ◽  
Kiyotsugu Iede ◽  
Takesi Chihara ◽  
Amane Yamauchi

Life ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 796
Author(s):  
Yumi Yoshii ◽  
Shunsuke Okazaki ◽  
Masayuki Takeda

Next-generation sequencing-based comprehensive genome profiling (CGP) testing, OncoGuide NCC Oncopanel System, and FoundationOne CDx Cancer Genomic Profile have been covered by the Japanese national health insurance system since June 2019. Because CGP was initially developed to enroll patients into an early-phase clinical trial for solid tumors, its approved indications have been limited to patients who have completed the standard chemotherapy treatment. Approximately 14,000 cases have been registered with the Center for Cancer Genomics and Advanced Therapeutics as of March 2021. Measuring the drug access rate is not enough due to patients’ deteriorating condition during CGP analysis and due to the limited number of ongoing clinical trials available, although tumor-agnostic therapies, such as the use of pembrolizumab in high microsatellite-instable solid tumors and in conditions with a high tumor mutational burden (≥10 mut/Mb) as well as the use of entrectinib and larotrectinib in NTRK fusion-positive tumors have been approved in Japan. Moreover, since this analysis is performed using DNA derived from tumor tissue, it is difficult to perform CGP in cases in which an insufficient amount of tissue exists. Thus, noninvasive blood-based assays have been developed, and CGP panels using circulating tumor DNA from blood were approved in March 2021. However, cost, timing, and the number of tests allowed by the health system have not yet been determined. Therefore, in this review, we outline the current status and issues of CGP testing using tumor tissues as well as the expectations and limitations of liquid biopsy for use in Japanese clinical practice.


Author(s):  
Mahdieh Tajik ◽  
Mohammad Mohsen Akhlaqi ◽  
Somayeh Gholami

Abstract A phantom is a highly specialized device, which mimic human body, or a part of it. There are three categories of phantoms: physical phantoms, physiological phantoms, and computational phantoms. The phantoms have been utilized in medical imaging and radiotherapy for numerous applications. In radiotherapy, the phantoms may be used for various applications such as quality assurance (QA), dosimetry, end-to-end testing, etc. In thoracic radiotherapy, unique QA problems including tumor motion, thorax deformation, and heterogeneities in the beam path have complicated the delivery of dose to both tumor and organ at risks (OARs). Also, respiratory motion is a major challenge in radiotherapy of thoracic malignancies, which can be resulted in the discrepancies between the planned and delivered doses to cancerous tissue. Hence, the overall treatment procedure needs to be verified. Anthropomorphic thorax phantoms, which are made of human tissue-mimicking materials, can be utilized to obtain the ground truth to validate these processes. Accordingly, research into new anthropomorphic thorax phantoms has accelerated. Therefore, the review is intended to summarize the current status of the commercially available and in-house-built anthropomorphic physical/physiological thorax phantoms in radiotherapy. The main focus is on anthropomorphic, deformable thorax motion phantoms. This review also discusses the applications of three-dimensional (3D) printing technology for the fabrication of thorax phantoms.


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