Background: Precision oncology is advancing, increasing the demand for comprehensive, non-invasive genomic profiling tools. Liquid biopsy using circulating tumor DNA (ctDNA) enables real-time molecular profiling, treatment monitoring, and early detection of resistance variants. We developed the PAN100 panel (Dxome), a hybridization capture panel targeting 101 genes, as a pan-cancer genotyping assay to detect clinically actionable variants across various cancer types. This study presents the first comprehensive validation of the PAN100 panel including both analytical and clinical performance across eight cancer types using reference materials and matched tissue samples. Methods: For analytical validation, we assessed accuracy, limit of detection (LoD), and precision using Seraseq ctDNA v2 Reference Materials (SeraCare, Milford, MA, USA). Clinical validation was performed using plasma samples from 27 patients with eight types of cancer and 17 matched tumor samples. Positive percent agreement (PPA) between ctDNA and tissue next-generation sequencing (NGS) results was assessed using TruSight Oncology 500 and TruSight Tumor 170 assays. The limit of blank (LoB) was evaluated in 34 healthy individuals. Results: The PAN100 panel demonstrated high precision and linearity (LoD, 0.3%; 95.0% confidence interval, 0.29–0.35) variant allele frequency. The PPA between ctDNA and tissue NGS was 73.1% for single-nucleotide variants, 80.0% for insertions/deletions, and 74.2% overall. The LoB was 0.00001%. Conclusions The PAN100 panel is a robust tool for detecting clinically significant variants with high concordance with tissue NGS. Its sensitivity for low-frequency variants enables real-time treatment adaptation, supporting precision oncology. Its comprehensive design is particularly valuable for challenging diagnoses and clonal evolution monitoring.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Purpose: With the revision of the Organ and Transplantation Act in 2018, the hand has become legal as an area of transplantable organs in Korea. In January 2021, the first hand allotransplantation since legalization was successfully performed, and we have performed a total of three successful hand transplantation since then. By comparing and incorporating our experiences, this study aimed to provide a comprehensive reconstructive solution for hand amputation in Korea. Materials and Methods: Recipients were selected through a structured preoperative evaluation, and hand transplantations were performed at the distal forearm level. Postoperatively, patients were treated with three-drug immunosuppressive regimen, and functional outcomes were monitored. Results: The hand transplantations were performed without intraoperative complications. All patients had partial skin necrosis and underwent additional surgical procedures in 2 months after transplantation. After additional operations, no further severe complications were observed. Also, patients developed acute rejection within 3 months of surgery, but all resolved within 2 weeks after steroid pulse therapy. Motor and sensory function improved dramatically, and patients were very satisfied with the appearance and function of their transplanted hands. Conclusion Hand transplantation is a viable reconstructive option, and patients have shown positive functional and psychological outcomes. Although this study has limitations, such as the small number of patients and short follow-up period, we should focus on continued recovery of hand function, and be careful not to develop side effects from immunosuppressive drugs. Through the present study, we will continue to strive for a bright future regarding hand transplantation in Korea.

Background: Altering wrist biomechanics, Kienbock’s disease leads to progressive carpal collapse that results in early arthritis and degenerative changes. By shifting the loading axis toward the radioscaphoid joint, scaphocapitate arthrodesis (SCA) has been reported as a salvage procedure effective in treating symptomatic patients with advanced Kienbock’s disease. In this study, we aimed to evaluate the clinical and radiological outcomes of arthroscopic SCA in symptomatic patients with advanced stages of Kienbock’s disease. Methods: Between March 2010 and February 2021, we included 15 patients with symptomatic stage IIIA (n=2) and stage IIIB (n=13) Kienbock’s disease who were followed up for a minimum of 24 months after arthroscopic SCA with or without lunate excision. The lunate was excised in 6 patients and retained in 9. Visual analog scale (VAS) pain score, grip strength, range of motion (ROM), active flexion-extension arc, and modified Mayo wrist score (MMWS) were measured preoperatively and at each follow-up examination after surgery. Operation-related complications and radiographic changes were also assessed. Results: There were 13 women and 2 men, with a mean age of 57.6 years (range, 21–74 years) at the time of undergoing arthroscopic SCA. Follow-up ranged from 24 to 116 months, with an average of 56.9 ± 32.3 months. Bony union was achieved in all patients. At preoperative examination, wrist ROM (67%) and grip strength (48%) significantly decreased, compared to the contralateral wrist. At the final follow-up, there were significant improvements in VAS, grip strength, and MMWS, whereas the active wrist ROM showed no significant change. Radioscaphoid angle recovered after surgery, while radiographic carpal collapse and ulnar translation of the carpus occurred. In subgroup analysis according to excision of the lunate, there were no significant differences in VAS, MMWS, grip strength, or total ROM. However, increased ulnar translation and decreased radial deviation were noted in the lunate excision group. Conclusions Arthroscopic SCA achieved significant improvements in pain and wrist function in patients with advanced Kienbock’s disease without any complications. Excision of the lunate when performing arthroscopic SCA seemed to induce progressive carpal ulnar translation, with no apparent clinical benefits over retaining it.

Background: Arthroscopic lunocapitate (LC) fusion can be an alternative surgical treatment for scapholunate advanced collapse (SLAC) or scaphoid nonunion advanced collapse (SNAC) of the wrist. We retrospectively reviewed patients who had arthroscopic LC fusion to estimate clinical and radiological outcomes. Methods: From January 2013 to February 2017, all patients with SLAC (stage II or III) or SNAC (stage II or III) wrists, who underwent arthroscopic LC fusion with scaphoidectomy and were followed up for a minimum of 2 years, were enrolled in this retrospective study. Clinical outcomes included visual analog scale (VAS) pain, grip strength, active range of wrist motion, Mayo wrist score (MWS), and the Disabilities of Arm, Shoulder and Hand (DASH) score. Radiologic outcomes included bony union, carpal height ratio, joint space height ratio, and loosening of screws. We also performed group analysis between patients with 1 and 2 headless compression screws to fix the LC interval. Results: Eleven patients were assessed for 32.6 ± 8.0 months. Union was achieved in 10 patients (union rate, 90.9%). There was improvmenet in mean VAS pain score (from 7.9 ± 1.0 to 1.6 ± 0.7, p = 0.003) and grip strength (from 67.5% ± 11.4% to 81.8% ± 8.0%, p= 0.003) postoperatively. The mean MWS and DASH score were 40.9 ± 13.8 and 38.3 ± 8.2, respectively, preoperatively and improved to 75.5 ± 8.2 and 11.3 ± 4.1, respectively, postoperatively (p < 0.001 for all). Radiolucent screw loosening occurred in 3 patients (27.3%), including 1 nonunion patient and 1 patient who underwent screw removal due to the screw migration encroaching the lunate fossa of radius. In group analysis, only the frequency of radiolucent loosening was higher in 1 screw (3 of 4) than 2 screw fixation (0 of 7) (p= 0.024). Conclusions Arthroscopic scaphoid excision and LC fusion for patients with advanced SLAC or SNAC of the wrist was effective and safe only in cases fixed with 2 headless compression screws. We recommend arthroscopic LC fusion using 2 screws rather than 1 to decrease radiolucent loosening, which might affect complications such as nonunion, delayed union, or screw migration.

The treatment of complicated anterior cerebral artery aneurysms remains challenging. Here, the authors describe a case of ruptured complicated A3 aneurysm, which was treated with trapping and in-situ bypass. A 47-year-old man presented to the emergency department with severe headache and vomiting. Computed tomography illustrated acute intracerebral hemorrhage in the right frontal lobe. Digital subtraction angiography (DSA) confirmed a ruptured fusiform A3 aneurysm with lobulation and a daughter sac. Trapping of the ruptured fusiform A3 aneurysm and distal end-toside A4 anastomosis was performed. DSA on postoperative day 7 showed mild vasospasm to the afferent artery. However, 2 months later, DSA demonstrated that the antegrade flow through the anastomosis site had recovered. Thus, surgeons should be aware of the possibility of postsurgical vasospasm of anastomosed arteries, especially in cases of ruptured aneurysms.

Background: This study described the surgical technique of a robot-assisted retroauricular anterior scalenectomy and assessed clinical outcomes and complications for patients with neurogenic thoracic outlet syndrome (nTOS). Methods: Between February 2014 and August 2016, 5 patients underwent robot-assisted retroauricular anterior scalenectomy using the da Vinci Xi system for nTOS. For clinical assessment, visual analog scale (VAS) symptom score, pinch and grip strength, and disabilities of arm, shoulder and hand (DASH) score were assessed to compare preoperative and postoperative outcomes. Postoperative complications were also reviewed. Results: The VAS symptom, pinch and grip strength, and DASH scores improved 1 year after the operation. All patients were satisfied with the surgical scars. Temporary postoperative complications, which spontaneously resolved within 3 months, were noticed in 2 patients: one with vocal cord palsy and the other with upper brachial plexus palsy. Conclusions The robot-assisted retroauricular anterior scalenectomy for patients with nTOS seems feasible and safe, providing satisfactory cosmetic results.