Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: This study aims to evaluate the treatment approaches and locoregional patterns for adenoid cystic carcinoma (ACC) in the breast, which is an uncommon malignant tumor with limited clinical data. Materials and Methods: A total of 93 patients diagnosed with primary ACC in the breast between 1992 and 2022 were collected from multi-institutions. All patients underwent surgical resection, including breast-conserving surgery (BCS) or total mastectomy (TM). Recurrence patterns and locoregional recurrence-free survival (LRFS) were assessed. Results: Seventy-five patients (80.7%) underwent BCS, and 71 of them (94.7%) received post-operative radiation therapy (PORT). Eighteen patients (19.3%) underwent TM, with five of them (27.8%) also receiving PORT. With a median follow-up of 50 months, the LRFS rate was 84.2% at 5 years. Local recurrence (LR) was observed in five patients (5.4%) and four cases (80%) of the LR occurred in the tumor bed. Three of LR (3/75, 4.0%) had a history of BCS and PORT, meanwhile, two of LR (2/18, 11.1%) had a history of mastectomy. Regional recurrence occurred in two patients (2.2%), and both cases had a history of PORT with (n=1) and without (n=1) irradiation of the regional lymph nodes. Partial breast irradiation (p=0.35), BCS (p=0.96) and PORT in BCS group (p=0.33) had no significant association with LRFS. Conclusion BCS followed by PORT was the predominant treatment approach for ACC of the breast and LR mostly occurred in the tumor bed. The findings of this study suggest that partial breast irradiation might be considered for PORT in primary breast ACC.

Objective: This study investigated potential relationships between the kinetics of nucleolar precursor bodies (NPBs) in the pronucleus and developmental morphokinetics and euploidy in human preimplantation genetic testing for aneuploidy (PGT-A) cycles. Methods: The morphokinetic analysis of 200 blastocysts obtained from 53 PGT-A cycles was performed retrospectively in a time-lapse incubator. At the time of pronuclear breakdown (PNBD), we categorized the blastocysts into two groups based on the kinetic degree of clustering NPBs at the interface of the two pronuclei: clustered NPBs (CL) and non-clustered NPBs (NCL). We then compared morphokinetic parameters, abnormal behavioral events, and the rate of aneuploidy between the two groups. Results: Pronuclear fading and the first cleavage occurred earlier in the NCL group than in the CL group. However, the initiation of blastocyst formation and blastocyst expansion was delayed in the NCL group relative to the CL group. No differences were found in the rate of abnormal cleavage events, such as multinucleation at the 2-cell stage, direct cleavage from one to three cells, and from two to five cells between the CL and NCL groups. However, the fragmentation rate at the 8-cell stage was higher in the NCL group than in the CL group (10.3% vs. 1.9%, p<0.05). Additionally, the euploid rate in the CL group was significantly higher than in the NCL group (37.9% vs. 12.4%, p<0.05). Conclusion These results demonstrate the effectiveness of combining NPB clustering at PNBD with morphokinetics as a parameter for selecting embryos with higher developmental potential in in vitro fertilization.

Background/Aims: Hepatocellular carcinoma (HCC) exhibits significant sex disparities in incidence, yet its molecular mechanisms remain unclear. We explored the role of telomerase reverse transcriptase (TERT) genetic alterations and hepatitis B virus (HBV) integration, both known major contributors to HCC, in sex-specific risk for HBV-related HCC. Methods: We examined 310 HBV-related HCC tissues to investigate sex-specific TERT promoter (TERT-pro) mutations and HBV integration profiles, stratified by sex and age, and validated with single-cell RNA sequencing (scRNA-seq) data. Results: Tumors predominantly exhibited TERT-pro mutations (26.0% vs. 0%) and HBV-TERT integration (37.0% vs. 3.0%) compared to non-tumorous tissues. While TERT-pro mutations increased with age in both sexes, younger males (≤60 years) showed marked predominance compared to younger females. Males had significantly more HBV integrations at younger ages, while females initially had fewer integrations that gradually increased with age. Younger males' integrations showed significantly greater enrichment in the TERT locus compared to younger females, alongside a preference for promoters, PreS/S regions, and CpG islands. Overall, TERT genetic alterations were significantly sex-differential in younger individuals (75.3% in males vs. 23.1% in females) but not in older individuals (76.9% vs. 83.3%, respectively). These alterations were associated with increased TERT expression. The skewed TERT abnormalities in younger males were further corroborated by independent scRNA-seq data. Conclusions Our findings highlight the critical role of TERT alterations and HBV integration patterns in the male predominance of HCC incidence among younger HBV carriers, offering insights for future exploration to optimize sex-specific patient care and HCC surveillance strategies.

Methods: The UBE approach targeted the ventral part of the superior articular process in the transforaminal UBE setup, specifically for upper lumbar disc herniation, with an approach angle of approximately 30º on the axial plane. Intraoperative navigation was employed to improve puncture accuracy for this relatively unfamiliar surgical technique. Navigation-assisted transforaminal UBE lumbar discectomy was performed on four patients presenting with back or leg discomfort due to disc herniation at the L1–L2 or L2–L3 levels. Results: All patients experienced symptom relief and were discharged on postoperative day 2. Conclusions Transforaminal UBE lumbar discectomy is a viable therapeutic option for upper lumbar paracentral disc herniation, which is typically associated with poor prognosis. Integrating navigation integration into this novel approach enhances precision and safety.

Objective: The upper lumbar region has distinctive anatomical characteristics that contribute to the challenges of performing discectomy. We introduce far-lateral transforaminal unilateral biportal endoscopic (UBE) lumbar discectomy for central or paracentral disc herniations in the upper lumbar region. Methods: We conducted retrospective review of the patients who underwent a far-lateral transforaminal UBE lumbar discectomy at our institution from January 2018 to September 2024. The electronic medical records, operative records, and radiologic images of the patients were reviewed. Results: A total of 27 patients underwent far-lateral transforaminal UBE lumbar discectomy for central or paracentral disc herniations in the upper lumbar region. The patient had a mean age of 54.0 ± 13.7 years. Operation was performed at the L1–2 level in 3 patients (11.1%), L2–3 in 9 patients (33.3%), and L3–4 in 15 patients (55.6%). The patients were followed-up for a mean of 27.7 ± 19.3 months. The Oswestry Disability Index was significantly decreased from 36.3 ± 6.8 preoperatively to 3.7 ± 3.3 at last follow-up (p < 0.001). The visual analogue scale (VAS) back was significantly decreased from 7.8 ± 0.9 preoperatively to 3.1 ± 0.6 postoperative day 2 (p < 0.001). The VAS leg was significantly decreased from 8.1 ± 0.8 preoperatively to 2.3 ± 0.7 postoperative day 2 (p < 0.001). Conclusion The far-lateral transforaminal UBE lumbar discectomy would be a viable surgical option for upper lumbar disc herniations.

This guideline outlines the use of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography for the diagnosis and management of neuroendocrine tumors, brain tumors, and other tumorous conditions. It provides detailed recommendations on patient preparation, imaging procedures, and result interpretation. Based on inter-national standards and adapted to local clinical practices, the guideline emphasizes safety, quality control, and the effec-tive application of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography for various tumors such as insulinomas, pheochromocytomas, and medullary thyroid carcinoma. It also addresses the use of premedication with carbidopa, fasting protocols, and optimal imaging techniques. The aim is to assist nuclear medicine professionals in delivering precise diagnoses, improving patient outcomes, and accommodating evolving medical knowl-edge and technology. This comprehensive document serves as a practical resource to enhance the accuracy, quality, and safety of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography in oncology.

Objective: The upper lumbar region has distinctive anatomical characteristics that contribute to the challenges of performing discectomy. We introduce far-lateral transforaminal unilateral biportal endoscopic (UBE) lumbar discectomy for central or paracentral disc herniations in the upper lumbar region. Methods: We conducted retrospective review of the patients who underwent a far-lateral transforaminal UBE lumbar discectomy at our institution from January 2018 to September 2024. The electronic medical records, operative records, and radiologic images of the patients were reviewed. Results: A total of 27 patients underwent far-lateral transforaminal UBE lumbar discectomy for central or paracentral disc herniations in the upper lumbar region. The patient had a mean age of 54.0 ± 13.7 years. Operation was performed at the L1–2 level in 3 patients (11.1%), L2–3 in 9 patients (33.3%), and L3–4 in 15 patients (55.6%). The patients were followed-up for a mean of 27.7 ± 19.3 months. The Oswestry Disability Index was significantly decreased from 36.3 ± 6.8 preoperatively to 3.7 ± 3.3 at last follow-up (p < 0.001). The visual analogue scale (VAS) back was significantly decreased from 7.8 ± 0.9 preoperatively to 3.1 ± 0.6 postoperative day 2 (p < 0.001). The VAS leg was significantly decreased from 8.1 ± 0.8 preoperatively to 2.3 ± 0.7 postoperative day 2 (p < 0.001). Conclusion The far-lateral transforaminal UBE lumbar discectomy would be a viable surgical option for upper lumbar disc herniations.

This guideline outlines the use of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography for the diagnosis and management of neuroendocrine tumors, brain tumors, and other tumorous conditions. It provides detailed recommendations on patient preparation, imaging procedures, and result interpretation. Based on inter-national standards and adapted to local clinical practices, the guideline emphasizes safety, quality control, and the effec-tive application of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography for various tumors such as insulinomas, pheochromocytomas, and medullary thyroid carcinoma. It also addresses the use of premedication with carbidopa, fasting protocols, and optimal imaging techniques. The aim is to assist nuclear medicine professionals in delivering precise diagnoses, improving patient outcomes, and accommodating evolving medical knowl-edge and technology. This comprehensive document serves as a practical resource to enhance the accuracy, quality, and safety of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography in oncology.

Objective: The upper lumbar region has distinctive anatomical characteristics that contribute to the challenges of performing discectomy. We introduce far-lateral transforaminal unilateral biportal endoscopic (UBE) lumbar discectomy for central or paracentral disc herniations in the upper lumbar region. Methods: We conducted retrospective review of the patients who underwent a far-lateral transforaminal UBE lumbar discectomy at our institution from January 2018 to September 2024. The electronic medical records, operative records, and radiologic images of the patients were reviewed. Results: A total of 27 patients underwent far-lateral transforaminal UBE lumbar discectomy for central or paracentral disc herniations in the upper lumbar region. The patient had a mean age of 54.0 ± 13.7 years. Operation was performed at the L1–2 level in 3 patients (11.1%), L2–3 in 9 patients (33.3%), and L3–4 in 15 patients (55.6%). The patients were followed-up for a mean of 27.7 ± 19.3 months. The Oswestry Disability Index was significantly decreased from 36.3 ± 6.8 preoperatively to 3.7 ± 3.3 at last follow-up (p < 0.001). The visual analogue scale (VAS) back was significantly decreased from 7.8 ± 0.9 preoperatively to 3.1 ± 0.6 postoperative day 2 (p < 0.001). The VAS leg was significantly decreased from 8.1 ± 0.8 preoperatively to 2.3 ± 0.7 postoperative day 2 (p < 0.001). Conclusion The far-lateral transforaminal UBE lumbar discectomy would be a viable surgical option for upper lumbar disc herniations.