1.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
2.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
3.Harnessing Institutionally Developed Clinical Targeted Sequencing to Improve Patient Survival in Breast Cancer: A Seven-Year Experience
Jiwon KOH ; Jinyong KIM ; Go-Un WOO ; Hanbaek YI ; So Yean KWON ; Jeongmin SEO ; Jeong Mo BAE ; Jung Ho KIM ; Jae Kyung WON ; Han Suk RYU ; Yoon Kyung JEON ; Dae-Won LEE ; Miso KIM ; Tae-Yong KIM ; Kyung-Hun LEE ; Tae-You KIM ; Jee-Soo LEE ; Moon-Woo SEONG ; Sheehyun KIM ; Sungyoung LEE ; Hongseok YUN ; Myung Geun SONG ; Jaeyong CHOI ; Jong-Il KIM ; Seock-Ah IM
Cancer Research and Treatment 2025;57(2):443-456
Purpose:
Considering the high disease burden and unique features of Asian patients with breast cancer (BC), it is essential to have a comprehensive view of genetic characteristics in this population. An institutional targeted sequencing platform was developed through the Korea Research-Driven Hospitals project and was incorporated into clinical practice. This study explores the use of targeted next-generation sequencing (NGS) and its outcomes in patients with advanced/metastatic BC in the real world.
Materials and Methods:
We reviewed the results of NGS tests administered to BC patients using a customized sequencing platform—FiRST Cancer Panel (FCP)—over 7 years. We systematically described clinical translation of FCP for precise diagnostics, personalized therapeutic strategies, and unraveling disease pathogenesis.
Results:
NGS tests were conducted on 548 samples from 522 patients with BC. Ninety-seven point six percentage of tested samples harbored at least one pathogenic alteration. The common alterations included mutations in TP53 (56.2%), PIK3CA (31.2%), GATA3 (13.8%), BRCA2 (10.2%), and amplifications of CCND1 (10.8%), FGF19 (10.0%), and ERBB2 (9.5%). NGS analysis of ERBB2 amplification correlated well with human epidermal growth factor receptor 2 immunohistochemistry and in situ hybridization. RNA panel analyses found potentially actionable and prognostic fusion genes. FCP effectively screened for potentially germline pathogenic/likely pathogenic mutation. Ten point three percent of BC patients received matched therapy guided by NGS, resulting in a significant overall survival advantage (p=0.022), especially for metastatic BCs.
Conclusion
Clinical NGS provided multifaceted benefits, deepening our understanding of the disease, improving diagnostic precision, and paving the way for targeted therapies. The concrete advantages of FCP highlight the importance of multi-gene testing for BC, especially for metastatic conditions.
4.Prediction of Mid-term Platelet Transfusion in Stable Trauma Patients Using Rotational Thromboelastometry
Ha Jin LIM ; Hyunseok JANG ; Naa LEE ; Euisung JEONG ; Yunchul PARK ; Younggoun JO ; Jungchul KIM ; Young Eun LEE ; Hyun-Jung CHOI ; Seung-Jung KEE ; Jong Hee SHIN ; Myung Geun SHIN
Annals of Laboratory Medicine 2024;44(1):74-81
Background:
Rotational thromboelastometry (ROTEM; TEM International GmbH, Munich, Germany) is a global coagulation test that guides evidence-based platelet transfusion in trauma patients. We evaluated ROTEM parameters for predicting mid-term (five days) platelet transfusion in trauma patients.
Methods:
Maximum clot firmness and clot amplitudes after 5, 10, and 15 mins (A5, A10, and A15, respectively) of fibrin-specific ROTEM (FIBTEM) and extrinsically activated ROTEM (EXTEM) were retrospectively collected from 82 hospitalized, stable, non-bleeding trauma patients after successful initial resuscitation. Platelet-specific ROTEM (PLTEM) was calculated by subtracting FIBTEM from EXTEM. Platelet transfusions were reviewed for five days after ROTEM.
Results:
The areas under the curve for FIBTEM, EXTEM, and PLTEM predicting platelet concentrate transfusion of > 12 U at mid-term were 0.915–0.923, 0.878–0.896, and 0.551–0.735, respectively. FIBTEM and EXTEM parameters were comparable to those of fibrinogen, fibrin/fibrinogen degradation products, D-dimer, and antithrombin III. Strong correlations (r > 0.7) were noted between platelet count and EXTEM (A5, A10, and A15) or PLTEM (A5), platelet function (per platelet count) and EXTEM (A10 and A15), and fibrinogen levels and all FIBTEM parameters.
Conclusions
FIBTEM and EXTEM can reliably predict mid-term platelet transfusion in trauma patients. FIBTEM, EXTEM, and PLTEM parameters correlate with conventional coagulation tests (platelets and fibrinogen).
5.Extrathyroidal Extension in Papillary Thyroid Cancer Could be Predicted Through Preoperative Sonography
Go Eun YANG ; Sung Whi CHO ; Yoon Jong RYU ; Kyoung Yul LEE ; Hwan Soo KIM ; Taek Geun OHK ; Hoonsung CHOI
International Journal of Thyroidology 2024;17(2):266-271
Background and Objectives:
Surgical decision-making for papillary thyroid cancer (PTC) relies on accurate preoperative staging, where ultrasonography plays a crucial role in predicting outcomes. We aimed to analyze the predictive effects of preoperative sonographic findings on pathological characteristics.
Materials and Methods:
Retrospective study was performed using ultrasonographic images and clinico-pathologic data of papillary thyroid cancer patients who underwent total thyroidectomy or lobectomy between March 2016 and May 2020. Finally, 152 patients and 169 tumors were analyzed.
Results:
Mean age of patients was 54.2±14.2 years and the proportion of female was 75.7%. Tumor size was 13.6±10.3 mm and the proportions of extrathyroidal extension (ETE) and lymph node (LN) involvement were 52.2% and 23.0%, respectively. Preoperative sonographic findings, including ETE, tumor margin, echogenicity, and K-TIRDAS, were significantly associated with pathological ETE.Other pathological characteristics, including LN involvement, lymphovascular invasion, and resection margin positivity, were more observed in patients with more aggressive findings on preoperative sonography; however, we could not find statistical significances.
Conclusion
This study showed that preoperative sonographic characteristics, such as sonographic ETE, tumor margin, echogenicity, and K-TIRADS, can provide valuable insights into predicting pathological ETE in PTC patients.
6.Extrathyroidal Extension in Papillary Thyroid Cancer Could be Predicted Through Preoperative Sonography
Go Eun YANG ; Sung Whi CHO ; Yoon Jong RYU ; Kyoung Yul LEE ; Hwan Soo KIM ; Taek Geun OHK ; Hoonsung CHOI
International Journal of Thyroidology 2024;17(2):266-271
Background and Objectives:
Surgical decision-making for papillary thyroid cancer (PTC) relies on accurate preoperative staging, where ultrasonography plays a crucial role in predicting outcomes. We aimed to analyze the predictive effects of preoperative sonographic findings on pathological characteristics.
Materials and Methods:
Retrospective study was performed using ultrasonographic images and clinico-pathologic data of papillary thyroid cancer patients who underwent total thyroidectomy or lobectomy between March 2016 and May 2020. Finally, 152 patients and 169 tumors were analyzed.
Results:
Mean age of patients was 54.2±14.2 years and the proportion of female was 75.7%. Tumor size was 13.6±10.3 mm and the proportions of extrathyroidal extension (ETE) and lymph node (LN) involvement were 52.2% and 23.0%, respectively. Preoperative sonographic findings, including ETE, tumor margin, echogenicity, and K-TIRDAS, were significantly associated with pathological ETE.Other pathological characteristics, including LN involvement, lymphovascular invasion, and resection margin positivity, were more observed in patients with more aggressive findings on preoperative sonography; however, we could not find statistical significances.
Conclusion
This study showed that preoperative sonographic characteristics, such as sonographic ETE, tumor margin, echogenicity, and K-TIRADS, can provide valuable insights into predicting pathological ETE in PTC patients.
7.Extrathyroidal Extension in Papillary Thyroid Cancer Could be Predicted Through Preoperative Sonography
Go Eun YANG ; Sung Whi CHO ; Yoon Jong RYU ; Kyoung Yul LEE ; Hwan Soo KIM ; Taek Geun OHK ; Hoonsung CHOI
International Journal of Thyroidology 2024;17(2):266-271
Background and Objectives:
Surgical decision-making for papillary thyroid cancer (PTC) relies on accurate preoperative staging, where ultrasonography plays a crucial role in predicting outcomes. We aimed to analyze the predictive effects of preoperative sonographic findings on pathological characteristics.
Materials and Methods:
Retrospective study was performed using ultrasonographic images and clinico-pathologic data of papillary thyroid cancer patients who underwent total thyroidectomy or lobectomy between March 2016 and May 2020. Finally, 152 patients and 169 tumors were analyzed.
Results:
Mean age of patients was 54.2±14.2 years and the proportion of female was 75.7%. Tumor size was 13.6±10.3 mm and the proportions of extrathyroidal extension (ETE) and lymph node (LN) involvement were 52.2% and 23.0%, respectively. Preoperative sonographic findings, including ETE, tumor margin, echogenicity, and K-TIRDAS, were significantly associated with pathological ETE.Other pathological characteristics, including LN involvement, lymphovascular invasion, and resection margin positivity, were more observed in patients with more aggressive findings on preoperative sonography; however, we could not find statistical significances.
Conclusion
This study showed that preoperative sonographic characteristics, such as sonographic ETE, tumor margin, echogenicity, and K-TIRADS, can provide valuable insights into predicting pathological ETE in PTC patients.
8.Clinical Practice Guideline for Percutaneous Endoscopic Gastrostomy
Chung Hyun TAE ; Ju Yup LEE ; Moon Kyung JOO ; Chan Hyuk PARK ; Eun Jeong GONG ; Cheol Min SHIN ; Hyun LIM ; Hyuk Soon CHOI ; Miyoung CHOI ; Sang Hoon KIM ; Chul-Hyun LIM ; Jeong-Sik BYEON ; Ki-Nam SHIM ; Geun Am SONG ; Moon Sung LEE ; Jong-Jae PARK ; Oh Young LEE ;
Gut and Liver 2024;18(1):10-26
With an aging population, the number of patients with difficulty swallowing due to medical conditions is gradually increasing. In such cases, enteral nutrition is administered through a temporary nasogastric tube. Long-term use of a nasogastric tube leads to various complications and a decreased quality of life. Percutaneous endoscopic gastrostomy (PEG) is the percutaneous placement of a tube into the stomach, aided endoscopically, which may be an alternative to a nasogastric tube when enteral nutritional is required for 4 weeks or more. This paper is the first Korean clinical guideline for PEG. It was developed jointly by the Korean College of Helicobacter and Upper Gastrointestinal Research and led by the Korean Society of Gastrointestinal Endoscopy. These guidelines aimed to provide physicians, including endoscopists, with the indications, use of prophylactic antibiotics, timing of enteric nutrition, tube placement methods, complications, replacement, and tubes removal for PEG based on the currently available clinical evidence.
9.Suppression of Glioblastoma Stem Cell Potency and Tumor Growth via LRRK2 Inhibition
Saewhan PARK ; Kyung-Hee KIM ; Yun-Hee BAE ; Young Taek OH ; Hyemi SHIN ; Hyung Joon KWON ; Chan Il KIM ; Sung Soo KIM ; Hwan-Geun CHOI ; Jong Bae PARK ; Byoung Dae LEE
International Journal of Stem Cells 2024;17(3):319-329
Leucine-rich repeat kinase 2 (LRRK2), a large GTP-regulated serine/threonine kinase, is well-known for its mutations causing late-onset Parkinson’s disease. However, the role of LRRK2 in glioblastoma (GBM) carcinogenesis has not yet been fully elucidated. Here, we discovered that LRRK2 was overexpressed in 40% of GBM patients, according to tissue microarray analysis, and high LRRK2 expression correlated with poor prognosis in GBM patients. LRRK2 and stemness factors were highly expressed in various patient-derived GBM stem cells, which are responsible for GBM initiation. Canonical serum-induced differentiation decreased the expression of both LRRK2 and stemness factors.Given that LRRK2 is a key regulator of glioma stem cell (GSC) stemness, we developed DNK72, a novel LRRK2 kinase inhibitor that penetrates the blood-brain barrier. DNK72 binds to the phosphorylation sites of active LRRK2 and dramatically reduced cell proliferation and stemness factors expression in in vitro studies. Orthotopic patient-derived xenograft mouse models demonstrated that LRRK2 inhibition with DNK72 effectively reduced tumor growth and increased survival time. We propose that LRRK2 plays a significant role in regulating the stemness of GSCs and that suppression of LRRK2 kinase activity leads to reduced GBM malignancy and proliferation. In the near future, targeting LRRK2 in patients with high LRRK2-expressing GBM could offer a superior therapeutic strategy and potentially replace current clinical treatment methods.
10.Evaluation of the Appropriateness of Platelet Transfusions at Two Tertiary Hospitals
Yu Been OH ; Ha Jin LIM ; Yong Jun KWON ; Yong Jun CHOI ; Joo-Heon PARK ; Hyun-Jung CHOI ; Hyun-Woo CHOI ; Seung-Jung KEE ; Eun-Hee NAH ; Myung-Geun SHIN ; Jong Hee SHIN
Korean Journal of Blood Transfusion 2024;35(1):33-43
Background:
Appropriate platelet transfusion is essential for patient blood management and allocating limited healthcare resources. Therefore, this study evaluated the appropriateness of platelet transfusion in two tertiary hospitals.
Methods:
At Chonnam National University Hospital (Hospital A) and Chonnam National University Hwasun Hospital (Hospital B), 1,470 platelet transfusions (299 and 1,171 cases at Hospitals A and B, respectively) during a single month were reviewed retrospectively using the Korean Transfusion Guidelines (5th edition).
Results:
The most common indications were therapeutic transfusion to ensure hemostasis (54.8%) at Hospital A and to prevent spontaneous bleeding in patients with hematologic/oncologic diseases (65.8%) at Hospital B. Overall, 87.3% and 76.3% of transfusions were appropriate at Hospitals A and B, respectively. According to the different transfusion indications, the therapeutic transfusions were appropriate in more than 80% of cases in both hospitals.The appropriateness of prophylactic transfusions against spontaneous bleeding was 80.7% and 69.3%, respectively, and those before surgery or invasive procedures were 72.0% and 66.2%, respectively. Of the 38 and 278 inappropriate transfusions in Hospitals A and B, respectively (as determined by pre-transfusion platelet counts), most cases had platelet counts between 50 and 100×109 /L in Hospital A (23 cases) and between 20 and 50×109 /L in Hospital B (198 cases).
Conclusion
The two hospitals differed in terms of transfusion indications, appropriateness, and cases of inappropriateness. The indications and appropriateness of platelet transfusion should be reviewed in real practice on a hospital-by-hospital basis to improve transfusion management.

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