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.

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.

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.

Purpose: The purpose of this study was to evaluate the clinical characteristics and treatment outcomes of alveolar soft part sarcoma (ASPS) of the extremities and trunk and investigate the prognostic factors. Materials and Methods: Forty patients presenting with ASPS in the extremities or trunk between 2001 and 2021 were reviewed retrospectively. We evaluated the clinical manifestations at presentation, local recurrence, and metastasis after treatment. The survival rates and prognostic factors affecting survival were analyzed. Only patients who were followed up for more than one year were included in the study. The mean follow-up time was 58 months (range, 12–120). Results: The average age of the patients was 26 years (range, 12–54) and the primary tumor developed mainly in the thigh (23 patients, 57.5%). The average size of the tumor was 8.7 cm and metastasis at presentation was seen in 28 (70%) patients. The overall survival rates at five-years and 10-years were 53.7% and 34.5%, respectively. Metastasis at presentation was related to poor survival (p=0.001). Conclusion ASPS in the extremities or trunk present with a high rate of metastasis and patients with metastasis showed poorer survival.In the future, further efforts to develop novel therapies like target therapy or immunotherapy for the treatment of metastatic patients are warranted.

Purpose: Giant cell tumor (GCT) of the proximal femur is relatively rare, with only a few case series reported thus far. This study aimed to evaluate the clinical outcomes of GCT of the proximal femur treated with intralesional curettage and expand the understanding of their characteristics and treatment considerations. Materials and Methods: Fifteen cases treated with curettage for GCT of the proximal femur between 2007 and 2020 were reviewed. The median follow-up was 46 months (25–150 months). There were 10 males and 5 females with a median age of 26 years (17–71 years). After curettage, the bone defect was filled with either an allograft (7 cases) or bone cement (8 cases). Results: The postoperative complications were local recurrences in three cases (20.0%), including malignant transformation in one case and a femur neck fracture in one case (6.7%) following curettage and strut allograft. Among the 15 cases, 13 (86.7%) retained their native joint at the last follow-up. No patients developed degenerative changes or osteonecrosis. Conclusion The results of proximal femoral GCT with curettage were acceptable despite local recurrences in three cases (20.0%), and femur neck fracture in one case. An appropriate surgical approach and reconstruction according to the extent of the lesion are necessary for successful treatment.

Background: Mechanical failures of tumor endoprosthesis in the distal femur usually require revision surgery. We investigated if the proximal femur host bone can be salvaged by onlay and overlapping allograft in revision surgeries due to aseptic loosening and stem fractures. Methods: We retrospectively reviewed 18 patients (7 men and 11 women) with osteosarcoma around the knee. The entire cohort was classified into three subgroups (no bone graft: 6, onlay allograft: 7, and overlapping allograft: 5) according to our treatment strategy. Results: The median interval from the initial surgery to the revision was 94.5 months (range, 21–219 months), and the median follow-up period from the revision surgery was 88.0 months (range, 24–179 months). At the last follow-up, 9 of the 18 patients maintained their endoprostheses, and the 5-year prosthesis survival rate was 57.9%. Limb survival was 100%. Five-year prosthesis survival rate was 66.7% in the no bone graft group, 85.7% in the onlay allograft group while 30.0% in the overlapping allograft group. In the no bone graft group and onlay allograft group, 66.7% (4/6) and 57.1% (4/7) maintained their revision prostheses while no prostheses survived in the overlapping allograft group. Recurrent stem loosening was observed in 14.2% (1/7) and 60.0% (3/5) of the onlay allograft and overlapping allograft groups, respectively, despite allograft bone union. The complication rate was 66.7% (12/18) in the entire cohort. The most common type of complication was infection (n = 6), followed by aseptic loosening (n = 4) and mechanical failure (n = 2). Conclusions This study indicates that onlay allograft can be used as a supportive method in revising failed endoprosthesis if the extent of host bone destruction is extensive. However, applying overlapping allograft to secure bone stock showed a high rate of mechanical failures and infection in the long term. Future studies with a larger cohort are necessary to assess the prognostic factors for the higher complication rate in overlapping allograft and the need for overlapping allograft. Surveillance with consideration of the risk of anteromedial osteolysis in allograft and efforts for prevention of periprosthetic infection are essential.

Purpose: This study examined the prevalence of osteoarthritis of the knee after curettage and polymethylmethacrylate (PMMA) application for giant cell tumor of the bone (GCTB) and factors affecting the development of osteoarthritis of the knee. Materials and Methods: Fifty-five patients with GCTB of the distal femur who were treated with curettage and PMMA filling between June 2001 and June 2016 were reviewed retrospectively. The development of osteoarthritis of the knee, as Kellgren–Lawrence grade 3 or 4, was determined by radiography of the latest follow-up data. This study evaluated the influence of the factors on the development of osteoarthritic changes. Only patients followed up for more than five years were included and the median follow-up was 77 months (range, 60–237 months). Results: Osteoarthritis of the knee was observed in 10 patients (18%) of whom three showed preoperative arthritic changes and did not progress. Seven (13%) patients experienced progression of the arthritic changes after surgery at a median of five years (range, 4–12 years). On the other hand, none of them received total knee arthroplasty. Among seven patients who showed progression of arthritis, four patients presented with a pathologic fracture initially and showed arthritic changes at a median of 4.5 years after surgery. The other three patients showed arthritic changes after ten years or more. Pathologic fractures (p=0.0001) and subchondral bone involvement (p=0.011) were significant risk factors for the development of osteoarthritis. Conclusion The incidence of development of osteoarthritis of the knee after curettage and PMMA application at distal femoral GCTB was 13%, but none of these patients received further surgery, such as total knee arthroplasty. The pathologic fracture and subchondral bone involvement are risk factors for arthritic changes in the midterm follow-up.

Background and Objectives: Therapies have been reported to treat the glottal gap previously. However, these voice therapies showed the limits because many techniques focused only on one among breathing, resonance and phonation. In addition patients often have difficulties visiting hospital frequently. ‘Gliding and humming’ is vocal training technique that readjusts total vocal patterns such as breathing, resonance and phonation. This technique can be easily applied during short term sessions. The purpose of this study is to evaluate the efficiency of voice therapy with ‘gliding and humming’ for patients with glottic gap during short-term treatment sessions.Materials and Method Twenty-three patients with glottal gap were selected. Of all patients, 14 patients had sulcus vocalis and 12 patients had muscle tension dysphonia (MTD). Voice therapies were performed 1.9 sessions in average. GRBAS, jitter, shimmer, noise to harmonic ratio, semitone range, closed quotient_vowel and maximum phonation time were compared before and after the therapies. In addition, changes of glottal gap and MTD severity were evaluated. Results: Statistically significant improvement was observed. MTD improvement was observed only among the patients with glottal gap improvement. Also sulcus vocalis group showed the statistically significant improvement. Conclusion ‘Gliding and humming’ was effective to the patients with glottic gap and sulcus vocalis. Also, among patients who have both glottic gap and MTD, the data suggests that voice therapy for glottic gap also makes improvement in MTD.

Background and Objectives: Therapies have been reported to treat the glottal gap previously. However, these voice therapies showed the limits because many techniques focused only on one among breathing, resonance and phonation. In addition patients often have difficulties visiting hospital frequently. ‘Gliding and humming’ is vocal training technique that readjusts total vocal patterns such as breathing, resonance and phonation. This technique can be easily applied during short term sessions. The purpose of this study is to evaluate the efficiency of voice therapy with ‘gliding and humming’ for patients with glottic gap during short-term treatment sessions.Materials and Method Twenty-three patients with glottal gap were selected. Of all patients, 14 patients had sulcus vocalis and 12 patients had muscle tension dysphonia (MTD). Voice therapies were performed 1.9 sessions in average. GRBAS, jitter, shimmer, noise to harmonic ratio, semitone range, closed quotient_vowel and maximum phonation time were compared before and after the therapies. In addition, changes of glottal gap and MTD severity were evaluated. Results: Statistically significant improvement was observed. MTD improvement was observed only among the patients with glottal gap improvement. Also sulcus vocalis group showed the statistically significant improvement. Conclusion ‘Gliding and humming’ was effective to the patients with glottic gap and sulcus vocalis. Also, among patients who have both glottic gap and MTD, the data suggests that voice therapy for glottic gap also makes improvement in MTD.

BACKGROUND/OBJECTIVES: Premenstrual syndrome (PMS) is a disorder characterized by repeated emotional, behavioral, and physical symptoms before menstruation, and the exact cause and mechanism are uncertain. Hyperprolactinemia interferes with the normal production of estrogen and progesterone, leading to PMS symptoms. Thus, we judged that the inhibition of prolactin hypersecretion could mitigate PMS symptoms.MATERIALS/METHODS: Hordeum vulgare L. extract (HVE), Chrysanthemum zawadskii var. latilobum extract (CZE), and Lomens-P0 the mixture of these extracts were tested in subsequent experiments. The effect of extracts on prolactin secretion at the in vitro level was measured in GH3 cells. Nitric oxide and pro-inflammatory mediator expression were measured in RAW 264.7 cells to confirm the anti-inflammatory effect. Also, the hyperprolactinemic Institute for Cancer Research (ICR) mice model was used to measure extract effects on prolactin and hormone secretion and uterine inflammation. RESULTS: Anti-inflammatory effects of and prolactin secretion suppress by HVE and CZE were confirmed through in vitro experiments (P < 0.05). Treatment with Lomens-P0 inhibited prolactin secretion (P < 0.05) and restored normal sex hormone secretion in the hyperprolactinemia mice model. In addition, extracts significantly inhibited the expression of pro-inflammatory biomarkers, including interleukin-1β, and -6, tumor necrosis factor-α, inducible nitric oxide synthase, and cyclooxygenase-2 (P < 0.01). We used high-performance liquid chromatography analyses to identify tricin and chlorogenic acid as the respective components of HVE and CZE that inhibit prolactin secretion. The Lomens-P0, which includes tricin and chlorogenic acid, is expected to be effective in improving PMS symptoms in the human body. CONCLUSIONS The Lomens-P0 suppressed the prolactin secretion in hyperprolactinemia mice, normalized the sex hormone imbalance, and significantly suppressed the expression of inflammatory markers in uterine tissue. This study suggests that Lomens-P0 may have the potential to prevent or remedy materials to PMS symptoms.