In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

Purpose: Renal tumors account for approximately 7% of all childhood cancers. These include Wilms tumor (WT), clear cell sarcoma of the kidney (CCSK), malignant rhabdoid tumor of the kidney (MRTK), renal cell carcinoma (RCC), congenital mesoblastic nephroma (CMN) and other rare tumors. We investigated the epidemiology of pediatric renal tumors in Korea. Materials and Methods: From January 2001 to December 2015, data of pediatric patients (0–18 years) newly-diagnosed with renal tumors at 26 hospitals were retrospectively analyzed. Results: Among 439 patients (male, 240), the most common tumor was WT (n=342, 77.9%), followed by RCC (n=36, 8.2%), CCSK (n=24, 5.5%), MRTK (n=16, 3.6%), CMN (n=12, 2.7%), and others (n=9, 2.1%). Median age at diagnosis was 27.1 months (range 0-225.5) and median follow-up duration was 88.5 months (range 0-211.6). Overall, 32 patients died, of whom 17, 11, 1, and 3 died of relapse, progressive disease, second malignant neoplasm, and treatment-related mortality. Five-year overall survival and event free survival were 97.2% and 84.8% in WT, 90.6% and 82.1% in RCC, 81.1% and 63.6% in CCSK, 60.3% and 56.2% in MRTK, and 100% and 91.7% in CMN, respectively (p < 0.001). Conclusion The pediatric renal tumor types in Korea are similar to those previously reported in other countries. WT accounted for a large proportion and survival was excellent. Non-Wilms renal tumors included a variety of tumors and showed inferior outcome, especially MRTK. Further efforts are necessary to optimize the treatment and analyze the genetic characteristics of pediatric renal tumors in Korea.

Purpose: Acute promyelocytic leukemia (APL) is a rare disease in children and there are some different characteristics between children and adult. We aimed to evaluate incidence, clinical characteristics and treatment outcomes of pediatric APL in Korea. Materials and Methods: Seventy-nine pediatric APL patients diagnosed from January 2009 to December 2016 in 16 tertiary medical centers in Korea were reviewed retrospectively. Results: Of 801 acute myeloid leukemia children, 79 (9.9%) were diagnosed with APL. The median age at diagnosis was 10.6 years (range, 1.3 to 18.0). Male and female ratio was 1:0.93. Thirty patients (38.0%) had white blood cell (WBC) count greater than 10×109/L at diagnosis. All patients received induction therapy consisting of all-trans retinoic acid and chemotherapy. Five patients (6.6%) died during induction chemotherapy and 66 patients (86.8%) achieved complete remission (CR) after induction chemotherapy. The causes of death were three intracranial hemorrhage, one cerebral infarction, and one sepsis. Five patients (7.1%) suffered a relapse during or after maintenance chemotherapy. The estimated 4-year event-free survival and overall survival (OS) rates were 82.1%±4.4%, 89.7%±5.1%, respectively. The 4-year OS was significantly higher in patients with initial WBC < 10×109/L than in those with initial WBC ≥ 10×109/L (p=0.020). Conclusion This study showed that the CR rates and survival outcomes in Korean pediatric APL patients were relatively good. The initial WBC count was the most important prognostic factor and most causes of death were related to serious bleeding in the early stage of treatment.

Purpose: We report a case of Purtscher-like retinopathy after aortic valve replacement surgery.Case summary: A 52-year-old male with bacteremia suspicious of infectious endocarditis was referred to our department for ophthalmic examination. Inflammatory reaction was evident in both anterior chambers. Fundus examination revealed infiltrative lesions with a Roth spot, and the patient was diagnosed with chorioretinitis. After 3 days, aortic valve replacement surgery was performed in the cardiac surgery department using cardioplegic solutions. Ophthalmologic exams were repeated after the valve surgery. The Roth spot had disappeared and infiltrated, leaving a clear margin. An anterior chamber cell was not noted. However, there were newly developed peripapillary superficial cotton-wool spots and delayed hemorrhagic lesions. Based on the medical history and specific pathognomonic fundus findings, the patient was diagnosed with Purtscher-like retinopathy. Four months later, all characteristic funduscopic features of Purtscher-like retinopathy had disappeared, leaving a remaining retinal nerve fiber defect and central visual field defect without any ophthalmologic treatment. Conclusions Although rare, doctors should be aware of the possibility of Purtscher-like retinopathy after valve replacement surgery. Further studies are needed to understand the unknown pathophysiology of Purtscher-like retinopathy.

Purpose: We report a case of Purtscher-like retinopathy after aortic valve replacement surgery.Case summary: A 52-year-old male with bacteremia suspicious of infectious endocarditis was referred to our department for ophthalmic examination. Inflammatory reaction was evident in both anterior chambers. Fundus examination revealed infiltrative lesions with a Roth spot, and the patient was diagnosed with chorioretinitis. After 3 days, aortic valve replacement surgery was performed in the cardiac surgery department using cardioplegic solutions. Ophthalmologic exams were repeated after the valve surgery. The Roth spot had disappeared and infiltrated, leaving a clear margin. An anterior chamber cell was not noted. However, there were newly developed peripapillary superficial cotton-wool spots and delayed hemorrhagic lesions. Based on the medical history and specific pathognomonic fundus findings, the patient was diagnosed with Purtscher-like retinopathy. Four months later, all characteristic funduscopic features of Purtscher-like retinopathy had disappeared, leaving a remaining retinal nerve fiber defect and central visual field defect without any ophthalmologic treatment. Conclusions Although rare, doctors should be aware of the possibility of Purtscher-like retinopathy after valve replacement surgery. Further studies are needed to understand the unknown pathophysiology of Purtscher-like retinopathy.

Purpose: We report a case of post-pterygium excisional Pseudallescheria boydii (P. boydii) necrotizing scleritis successfully treated with multi-antifungal agents.Case summary: A 73-year-old female with a history of pterygium excision 6 years prior was referred to our institute because of worsening scleritis in the left eye during high-dose, 2-week steroid treatment. On the initial visit, an oval ulcer was observed in the temporal sclera adjacent to the limbus. All steroids were stopped and 1% voriconazole, 5% natamycin, 2.5% vancomycin, and 5% ceftazidime eyedrops were applied every hour and oral voriconazole 200 mg prescribed once a day, but the scleral necrosis continued to worsen. On day 10, the filamentous fungus P. boydii was isolated; 0.5% caspofungin eyedrops were added and the topical voriconazole concentration increased to 2%. Six weeks later, despite epithelization over the scleral necrosis, choroidal detachment developed. The antifungal treatment was continued and a dispersive, ophthalmic viscosurgical device inserted in the anterior chamber. At 14 weeks of treatment, the scleral necrosis was completely epithelialized and the choroidal detachment had disappeared. Conclusions When encountering a case of P. boydii-caused necrotizing scleritis developing after pterygium excision surgery, long-term intensive treatment with several antifungal agents must be considered.

Background/Aims: Adherence to tyrosine kinase inhibitors (TKIs) has become a critical aspect of care in chronic myeloid leukemia (CML). We aimed to examine the association of TKI adherence with overall survival (OS) outcomes in Korean patients diagnosed with CML and treated with TKIs using data from the National Health Information Database. Methods: This study included 2,870 CML patients diagnosed between 2005 and 2013. Drug adherence was evaluated according to the medication possession ratio (MPR) and classified as high adherence (i.e., MPR ≥ 0.95 [upper 50%]), moderate adherence (i.e., MPR ≥ 0.68 and < 0.95 [middle 25%]), and low adherence (i.e., MPR < 0.68 [lower 25%]). Results: The median MPR was 0.95 (range, 0 to 4.67). Male sex (p = 0.003), age < 70 years (p < 0.001), high income (≥ 30%, p < 0.001), and maintaining frontline TKI (< 0.001) were associated with better adherence. Adherence to dasatinib was the lowest (vs. imatinib or nilotinib, p < 0.001). Compared with high MPR patients, those with moderate MPR (hazard ratio [HR], 4.90; 95% confidence interval [CI], 3.87 to 6.19; p < 0.001) and low MPR (HR, 11.6; 95% CI, 9.35 to 14.42; p < 0.001) had poorer OS. Conclusions Adherence to TKI treatment is an important factor predicting survival outcomes in Korean CML patients. Male sex, age < 70 years, high income, and maintaining frontline TKI are associated with high adherence to TKI. Thus, those without these characteristics should be closely monitored for treatment adherence.

Background and Objectives: There have been no reports in Korea regarding cochlear implant surgeries using Cochlear Nucleus Profile Slim Modiolar electrode [CI532 (Cochlear Ltd.)], as it has been recently released in Korea. We aimed to investigate the short-term results of CI532 and compare them with previous devices with perimodiolar or straight electrodes arrays from the same manufacturer.Subjects and Method From August 2018 to July 2019, 52 patients (26 adults; 26 children) who underwent cochlear implantation of CI532 were included. The intraoperative impedance and evoked compound action potential (ECAP) threshold in each electrode were analyzed and compared with the devices with a perimodiolar electrode array [Contour Advance® (Cochlear Ltd.)] and a lateral wall electrode array [CI422 and CI522 (Cochlear Ltd.)]. Postoperative changes of hearing thresholds at each frequency (250, 500, and 1000 Hz) and aided word recognition scores (WRS) were also compared. Results: CI532 showed significantly lower intraoperative impedance in the basal regions compared to the lateral wall electrode array. The ECAP thresholds of CI532 in the apical electrodes were significantly lower than that in the other two groups. After implantation, CI532 showed a significant preservation of hearing thresholds at most frequencies and showed significantly higher preservation rates than the other electrodes. However, there was no difference between the three groups regarding the postoperative short-term aided WRS. Conclusion CI532 showed lower intraoperative impedances and ECAP thresholds, and better short-term hearing preservation outcomes compared to the other electrodes, suggesting that CI532 electrode might be a better option with less traumatic insertion. However, there was no significant difference in the aided WRS, and further studies with a longer follow-up are necessary to examine the difference of audiologic outcomes.