5 research outputs found

    Recommendations related to the analytical equivalence assessment of gene panel testing

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    Advances in cancer genome care over the past few years have included the development of gene panel testing for various biomarkers. This article summarizes issues and provides recommendations related to analytical performance evaluations for new oncology gene panels. The scope of these recommendations includes comprehensive genomic profiling assays related to gene panel testing that uses histological or serum specimens to detect gene mutations. As a research project of the Japan Agency for Medical Research and Development Research on Regulatory Science of Pharmaceuticals and Medical Devices, we convened the working group committee that consisted of more than 30 experts from academia, industry, and government. We have discussed the points that should be considered to allow maximal simplification of assessments using clinical specimens in evaluating accuracy and limit of detection in equivalence and analytical performance for three years. We provide recommendations specific to each type of gene mutation as well as to reference standards or specimens used for evaluations. In addition, in order to facilitate the discussion on the analytical performance of gene panel tests by multidisciplinary tumor boards of hospitals, the present recommendations also describe the items that companies are expected to provide information on in their packaging inserts and reports, and the items that are expected to be discussed by multidisciplinary tumor boards. Our working group document will be important for participants in multidisciplinary tumor boards including medical oncologists and genome scientists, and developers of gene panels not only in Japan but also in other countries

    Sex Differences in Muscle Activity During Drop-Jump Landing Motion

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    This study investigated the effect of hip joint muscles' activity on dynamic knee-joint valgus angle during one-leg drop-jump landing motion in male and female subjects. Twenty-four healthy university students (11 males and 13 females) participated in the study. Surface electromyography was used to measure muscle activity during a one-leg landing motion. A gender difference was observed: males showed greater activity in the gluteus medius muscle compared to the adductor magnus muscle, whereas females showed greater activity in the rectus femoris muscle. A correlation between lower limb muscle activity and knee-joint valgus angle was found in male subjects but not in female subjects, suggesting that factors other than muscle activity are necessary for controlling knee joint valgus in females. Therefore, factors other than muscle activity should be investigated in the future to prevent female anterior cruciate ligament injuries

    Cervical cytology and human papillomavirus among asymptomatic healthy volunteers in Vientiane, Lao PDR

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    Abstract Background Cervical cancer is the most common cancer in women living in Vientiane, Lao People’s Democratic Republic (PDR). This study examines cervical cytology using a liquid-based cytology (LBC) method and reports the presence of high-risk (HR) human papillomavirus (HPV). Methods We collected cervical samples from 1475 asymptomatic and healthy volunteers from six hospitals in Lao PDR. A total of 1422 volunteers (mean age 39.1 ± 6.4 years, range 30-54 years) were included in the final analysis. We performed HPV typing using the polymerase chain reaction technique to detect HR-HPV samples with abnormal cytology. Results The overall rates of abnormal cytology and HR-HPV–positive in the samples were 9.3% (132/1422) and 47.7% (63/132), respectively. The samples with abnormal cytology included 13 high-grade squamous intraepithelial lesions and one squamous cell carcinoma case. The results showed that the most common type of HPV was HPV16 (20.5%) followed by HPV58 (9.1%). Conclusions Healthy women in Vientiane, the capital of Lao PDR, have high rates of abnormal cervical cytology and are likely to be HR-HPV-positive. A system for detection and prevention of cervical cancer in these women should be developed in the near future

    Genetic Profiling of Malignant Melanoma Arising from an Ovarian Mature Cystic Teratoma: A Case Report

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    Ovarian mature cystic teratomas comprise tissues derived from all three germ layers. In rare cases, malignant tumors arise from ovarian mature cystic teratoma. A variety of tumors can arise from mature cystic teratoma, among which primary malignant melanoma (MM), for which no molecular analyses such as genomic sequencing have been reported to date, is exceedingly rare, thereby limiting possible therapeutic options using precision medicine. We used targeted gene sequencing to analyze the status of 160 cancer-related genes in a patient with MM arising from an ovarian mature cystic teratoma (MM-MCT). KRAS amplification and homozygous deletion in PTEN and RB1 were detected in tumor samples collected from the patient. No KRAS amplification has been previously reported in cutaneous MM, indicating that the carcinogenesis of MM-MCT differs from that of primary cutaneous melanomas. A better understanding of the underlying genetic mechanisms will help clarify the carcinogenesis of MM-MCT. In turn, this will enable treatment with novel targeting agents as well as the initial exploration of gene-based precision oncological therapies, which aim to improve treatment outcomes for patients with this disease
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