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: It is well known that the majority of the extranodal marginal zone lymphomas of mucosa-associated lymphoid tissues (MALT lymphomas) are associated with microbiota, e.g., gastric MALT lymphoma with Helicobacter pylori. In general, they are very sensitive to low-dose radiotherapy and chemotherapeutic agents. The microbiota profile is not clearly elucidated in bronchus-associated lymphoid tissue (BALT) lymphoma, a rare type of MALT lymphoma in the lung. Thus, this study aimed to clarify the intratumor microbiome in BALT lymphoma using the third-generation next-generation sequencing (NGS) method. Materials and Methods: DNAs were extracted from 12 formalin-fixed paraffin-embedded (FFPE) tumor tissues obtained from BALT lymphoma patients diagnosed between 1990 and 2016. 16S rRNA gene was amplified by polymerase chain reaction. Amplicons were sequenced using a Nanopore platform. Next-generation sequencing analysis was performed to assess microbial profiles. For comparison, FFPE specimens from nine non-cancerous lung tissues were also analyzed. Results: Specific bacterial families including Burkholderiaceae, Bacillaceae, and Microbacteriaceae were associated with BALT lymphoma by a linear discriminant analysis effect size approach. Although the number of specimens was limited, BALT lymphomas exhibited significantly higher microbial abundance and diversity with distinct microbial composition patterns and correlation networks than non-cancerous lung tissues. Conclusion This study provides the first insight into intratumor microbiome in BALT lymphoma using the third-generation NGS method. A distinct microbial composition suggests the presence of a unique tumor microenvironment of BALT lymphoma.

Ectopic thyroid is thyroid tissue found in places other than the anterolateral aspect of the second to fourth tracheal ring. Mediastinal ectopic thyroid is rare and only few cases have been reported. The authors experienced a case of 41-year-old female patient with an anterior neck mass. The patient had mild chest discomfort when breathing with no other symptoms. Imaging studies suggested tumor of thymic tissue origin and surgical excision was done. The mass was successfully removed and histopathologically determined to be thyroid tissue. We hereby report with a review of literature a case of ectopic thyroid found in the mediastinum, which was successfully removed by transcervical incision.

Objective: To evaluate the clinical efficacy of ultrafast dynamic contrast-enhanced (DCE)-MRI using a compressed sensing (CS) technique for differentiating benign and malignant soft-tissue tumors (STTs) and to evaluate the factors related to the grading of malignant STTs. Materials and Methods: A total of 165 patients (96 male; mean age, 61 years), comprising 111 with malignant STTs and 54 with benign STTs according to the 2020 WHO classification, underwent DCE-MRI with CS between June 2018 and June 2023. The clinical, qualitative, and quantitative parameters associated with conventional MRI were also obtained. During post-processing of the early arterial phase of DCE-MRI, the time-to-enhance (TTE), time-to-peak (TTP), initial area under the curve at 60 s (iAUC60), and maximum slope were calculated. Furthermore, the delayed arterial phase parameters of DCEMRI, including Ktrans , Kep, Ve, and iAUC values and time-concentration curve (TCC) types, were determined. Clinical and MRI parameters were statistically analyzed to differentiate between benign and malignant tumors and their correlation with tumor grading. Results: According to logistic regression analysis, the TTE value (P < 0.001) of the early arterial phase and Ve (P = 0.039) and iAUC (P = 0.006) values of the delayed arterial phase, as well as age, location, peritumoral edema, and contrast heterogeneity on conventional MRI, were significant (P = 0.001–0.015) in differentiating benign and malignant tumors. Among all the quantitative parameters, the TTE value had the highest accuracy, with an area under the receiver operating characteristic curve of 0.902. The grading of malignant tumors was significantly correlated with peritumoral edema; CE heterogeneity; visual diffusion restriction; minimum and mean ADC; TTP, Kep, and Ve values; and the TCC graph (all P < 0.05). Conclusion Among the quantitative parameters obtained using ultrafast DCE-MRI, early arterial phase TTE was the most accurate for distinguishing between benign and malignant tumors.

This report presents radiologic changes after clinical improvement in a patient with acute interstitial nephritis (AIN). A 45-year-old female patient was referred for decreased renal function. Eight months prior, she had undergone hysterectomy and received chemotherapy. At the start of chemotherapy, her baseline creatinine level was 0.55 mg/dL, which rose to 1.46 mg/dL. Multiple imaging modalities performed when decreased renal function was observed revealed bilateral renal enlargement with increased cortical attenuation on computed tomography (CT), cortical hyperechogenicity on ultrasonography, and diffusion restriction in the renal cortices on magnetic resonance imaging. A renal biopsy was performed, and AIN was diagnosed. Follow-up laboratory tests showed that kidney function had improved to normal levels, and CT at that time showed a reduction in the size of both kidneys. Radiologic changes can serve as clues for the diagnosis of AIN. This is the first report to confirm radiological changes after the clinical improvement of AIN, thereby providing novel information about the course of AIN.

Ectopic thyroid is thyroid tissue found in places other than the anterolateral aspect of the second to fourth tracheal ring. Mediastinal ectopic thyroid is rare and only few cases have been reported. The authors experienced a case of 41-year-old female patient with an anterior neck mass. The patient had mild chest discomfort when breathing with no other symptoms. Imaging studies suggested tumor of thymic tissue origin and surgical excision was done. The mass was successfully removed and histopathologically determined to be thyroid tissue. We hereby report with a review of literature a case of ectopic thyroid found in the mediastinum, which was successfully removed by transcervical incision.

Objective: To evaluate the clinical efficacy of ultrafast dynamic contrast-enhanced (DCE)-MRI using a compressed sensing (CS) technique for differentiating benign and malignant soft-tissue tumors (STTs) and to evaluate the factors related to the grading of malignant STTs. Materials and Methods: A total of 165 patients (96 male; mean age, 61 years), comprising 111 with malignant STTs and 54 with benign STTs according to the 2020 WHO classification, underwent DCE-MRI with CS between June 2018 and June 2023. The clinical, qualitative, and quantitative parameters associated with conventional MRI were also obtained. During post-processing of the early arterial phase of DCE-MRI, the time-to-enhance (TTE), time-to-peak (TTP), initial area under the curve at 60 s (iAUC60), and maximum slope were calculated. Furthermore, the delayed arterial phase parameters of DCEMRI, including Ktrans , Kep, Ve, and iAUC values and time-concentration curve (TCC) types, were determined. Clinical and MRI parameters were statistically analyzed to differentiate between benign and malignant tumors and their correlation with tumor grading. Results: According to logistic regression analysis, the TTE value (P < 0.001) of the early arterial phase and Ve (P = 0.039) and iAUC (P = 0.006) values of the delayed arterial phase, as well as age, location, peritumoral edema, and contrast heterogeneity on conventional MRI, were significant (P = 0.001–0.015) in differentiating benign and malignant tumors. Among all the quantitative parameters, the TTE value had the highest accuracy, with an area under the receiver operating characteristic curve of 0.902. The grading of malignant tumors was significantly correlated with peritumoral edema; CE heterogeneity; visual diffusion restriction; minimum and mean ADC; TTP, Kep, and Ve values; and the TCC graph (all P < 0.05). Conclusion Among the quantitative parameters obtained using ultrafast DCE-MRI, early arterial phase TTE was the most accurate for distinguishing between benign and malignant tumors.

This report presents radiologic changes after clinical improvement in a patient with acute interstitial nephritis (AIN). A 45-year-old female patient was referred for decreased renal function. Eight months prior, she had undergone hysterectomy and received chemotherapy. At the start of chemotherapy, her baseline creatinine level was 0.55 mg/dL, which rose to 1.46 mg/dL. Multiple imaging modalities performed when decreased renal function was observed revealed bilateral renal enlargement with increased cortical attenuation on computed tomography (CT), cortical hyperechogenicity on ultrasonography, and diffusion restriction in the renal cortices on magnetic resonance imaging. A renal biopsy was performed, and AIN was diagnosed. Follow-up laboratory tests showed that kidney function had improved to normal levels, and CT at that time showed a reduction in the size of both kidneys. Radiologic changes can serve as clues for the diagnosis of AIN. This is the first report to confirm radiological changes after the clinical improvement of AIN, thereby providing novel information about the course of AIN.