PURPOSE:This study aimed to culturally adapt the Korean version of the Walsh Family Resilience Questionnaire (WFRQ-K) for families of children with chronic illness and evaluate its reliability and validity. DESIGN AND METHODS:This two-phase methodological study followed the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines. Phase 1 involved translation and cultural adaptation according to World Health Organization guidelines. Phase 2 evaluated the psychometric properties of the WFRQ-K in 323 parents of children with childhood cancer, spina bifida, or Down syndrome. Reliability was assessed using internal consistency, test-retest reliability, and theta-dependent reliability. Structural validity was examined using confirmatory factor analysis. Convergent validity was evaluated through correlations with the Connor-Davidson Resilience Scale-Korean version, and discriminant validity using heterotrait-monotrait ratios across the three family resilience domains. RESULTS:The WFRQ-K demonstrated strong internal consistency and acceptable test-retest reliability. Theta-dependent reliability remained high from low to moderately high levels of family resilience but declined at very high levels. Confirmatory factor analysis supported the proposed three-factor structure with satisfactory model fit. Positive correlations with individual resilience supported convergent validity, while the three domains remained empirically distinct, supporting discriminant validity. CONCLUSIONS:The WFRQ-K is a culturally appropriate, reliable, and valid measure of family resilience among Korean families of children with chronic illness. Additional item development may improve precision at very high resilience levels. PRACTICE IMPLICATIONS:The WFRQ-K can help pediatric nurses identify family resilience strengths and needs and inform family-centered support.

Purpose:Resilience is an important psychosocial resource for adolescents and young adults (AYAs) with cancer; however, family-related factors influencing resilience among Korean AYAs remain understudied. This study examined the associations between family environment variables (family strength, parent-adolescent communication, and family support) and resilience among Korean AYAs with childhood cancer. Materials and Methods:In this cross-sectional study, 141 Korean AYAs (ages 11-26 years) completed self-report questionnaires between June 2019 and January 2021. Guided by the Resilience in Illness Model, parent-AYA communication, family strengths, and family support were assessed. Data were analyzed using descriptive statistics, correlations, and hierarchical regression models. Results:Resilience was positively correlated with all family-related variables. After adjusting for demographic and clinical characteristics, family strengths (β=0.290, p=0.044) and family support (β=0.447, p<0.001) significantly predicted resilience, explaining 34.7% of the variance. Moderation analysis using Hayes' PROCESS macro showed that that the association between family strength and resilience was stronger among AYAs receiving active treatment (b=1.2416, p<0.001). In addition, the association between family support and resilience was stronger influence among male AYAs and those under treatment (b=0.530, p<0.001). Conclusion:Family strength and perceived family support are important correlates of resilience among Korean AYAs with childhood cancer, particularly among male AYAs and those undergoing active cancer treatment. These findings highlight the importance of understanding family dynamics and implementing family-centered approaches to support resilience among AYAs throughout the cancer treatment trajectory.

Background: Emicizumab has demonstrated efficacy in clinical trials for hemophilia A prophylaxis, but comprehensive real-world data from Asian populations are limited. This multicenter study evaluated the effectiveness and safety of emicizumab in Korean patients with severe hemophilia A.,Methods: This retrospective cohort study included 121 patients (median age 17.8 years; 60 adults, 61 pediatric; 24 with inhibitors, 97 without inhibitors) who received emicizumab prophylaxis at 13 hospitals in Korea. Patients were enrolled according to Korean National Health Insurance reimbursement criteria, which included inhibitor patients and non-inhibitor patients with frequent bleeding, hemophilic arthropathy, severe or life-threatening bleeding history, or pediatric synovitis. Primary outcome was the calculated annualized bleeding rate (ABR). Secondary outcomes included target joint resolution at 52 weeks and bleeding episodes categorized as spontaneous, traumatic, or procedure-related.,Results: The median calculated ABR was 0 (IQR 01.0), with 62.8% of patients experiencing zero bleeding episodes during 24 weeks; 97.7% of patients with pre-treatment bleeding demonstrated bleeding reduction. Of 81 total bleeding episodes, 62 required treatment; 27 were spontaneous, 27 traumatic, and 8 procedure-related. Target joint resolution was achieved in 87.3% of evaluable patients (62/71), with 93.7% of individual target joints (133/142) meeting resolution criteria. All 33 treated joint bleeding episodes occurred exclusively in target joints or joints with established hemophilic arthropathy. No thrombotic events or ≥ grade 3 adverse events were reported.,Conclusion: Emicizumab prophylaxis achieved effective bleeding prevention and high target joint resolution rates in Korean patients with severe hemophilia A, validating real-world effectiveness when administered according to evidence-based criteria.

BACKGROUND:Pediatric non-Hodgkin lymphoma (NHL) is the third most common childhood malignancy, but reliable prognostication remains challenging. This study aimed to evaluate the prognostic value of baseline 18 F-FDG PET/CT parameters reflecting disease spread, the largest interlesion distance (Dmax), and total metabolic tumor volume (TMTV), in pediatric patients with NHL. PATIENTS AND METHODS:We retrospectively enrolled 98 pediatric patients with NHL (74 males, 24 females; median age, 10.4 y; range, 0.3-17.9 y) who underwent FDG PET/CT for staging between January 2008 and November 2024. TMTVs were defined using a 41% maximum standardized uptake value threshold. Distances between all lesion pairs were calculated to determine Dmax. Prognostic significance of FDG PET/CT parameters and clinical factors for survival outcomes was evaluated using univariate analysis. RESULTS:Based on surrogate TMTV (sTMTV) and sDmax, patients were stratified into no (n = 61), 1-risk (n = 17), and 2-risk factor groups (n = 20). In the univariate analysis, advanced stage (≥IV), bone marrow involvement, elevated serum lactate dehydrogenase (LDH) level (>500 IU/L), sTMTV, sDmax, and the PET-based risk group were significant prognostic factors for event-free survival ( P < 0.05). For overall survival, significant factors included LDH level, sTMTV, sDmax, and the PET-based risk group ( P < 0.05). The PET-based risk stratification was also reflected in survival outcomes. CONCLUSIONS:sTMTV and sDmax derived from FDG PET/CT are significant prognostic biomarkers in pediatric NHL. Their combination enables effective stratification of pediatric patients with NHL into distinct risk groups and may inform future risk-adapted management strategies, potentially improving survival in this population.

The integrated stress response (ISR) is an crucial adaptive mechanism that enables the cells to survive microenvironment stress, such as nutrient deficiency. General control non-derepressible 2 (GCN2) and its relevant pathway is essential and pivotal for ISR activation, in which the cells undergo amino acid deficiency. GCN2 phosphorylates Eukaryotic Translation Initiation Factor α (eIF2α) and enhances Activating Transcription Factor 4 (ATF4) expression to regulate the genes involved in physiological responses including cellular adaptation and survival. The roles of GCN2 in cancer survival have been studied and suggested as a target of cancer treatment. Rhabdomyosarcoma is one of the most common cancer types in childhood and adolescence, however, there was little progress in the treatment development over the past two decades. This study evaluated the efficacy KAS-1155, a novel GCN2 inhibitor in two representative rhabdomyosarcoma cell lines. Two rhabdomyosarcoma cell lines (RD, RH-30) were treated with KAS-1155 which is a GCN2 inhibitor produced and provided by Korea Research Institute of Chemical Technology (KRICT). RD was cultured in DMEM, transferred to glutamine-free media for 8 hours, and treated with KAS-1155. The RH30 was initially grown in RPMI media, and the cell line was sub-cultured twice in the glutamine-free media to establish a resistant cell population. This glutamine-starvation-resistant RH30 cell line was treated with KAS-1155 in the same conditions as RD. Cellular viability was assessed using Cell Counting Kit-8(CCK-8) assays. GCN2 pathway activation, including phosphorylated GCN2 (p-GCN2), eIF2α, and ATF4 expression, was analyzed by western blotting. In the glutamin-free media, p-GCN2 was detected after 8 hours in RD cells and, persisted up to 40 hours. In RH30, the p-GCN2 was detectable at 8 hours, and peaked at 40 hours ,and then maintained elevated until 72 hours. Following the 14 hours and 49 hours of glutamine-free media exposure for RD and RH30 respectively, p-GCN2, p-eIF2α and ATF were suppressed successfully with the treatment of KAS-1155 at the concentration of 0.1μM and 1μM for each cell line. Viability assays demonstrated IC50 values of 1.06 μM for RD cells and 1.87 μM for RH30 cells, indicating moderate growth suppression by KAS-1155. GCN2 pathway activation represented the adaptive response in rhabdomyosarcoma cell lines under glutamine-free, amino acid starvation condition. The KAS-1155 inhibited RD and RH30 proliferation suppression at moderate concentrations. This suggests the GCN2 inhibitor may have a role in the treatment of rhabdomyosarcoma, especially in the resistant cell types. Further preclinical investigation is needed to clarify its therapeutic potential and proper use of the GCN2 inhibitor in the rhabdomyosarcoma cell lines. Da Yeon Kang, Hae Won Lee, Jong Woo Yoon, Jung-Nyoung Heo, Youngki Choi, Seung Min Hahn, Won Ki Ahn, Jung Woo Han. Preclinical efficacy of GCN2 inhibition by KAS-1155 in targeting the integrated stress response in rhabdomyosarcoma [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 6447.

Jeongyun Bae, M.D., Won Kee Ahn, M.D., Jaehyeok Jang, M.D., Hanmil Jang, M.D., Hyein Kang, M.D., John Hoon Rim, M.D., Ph.D., Seung Min Hahn, M.D., Jung Woo Han, M.D., Chuhl Joo Lyu, M.D., Ph.D., and Jong-Baeck Lim, M.D., Ph.D.. Ann Lab Med 2024;44:97-9. https://doi.org/10.3343/alm.2024.44.1.97

Peripheral blood stem cell transplantation (PBSCT) is an important therapeutic measure for both hematologic and non-hematologic diseases. For PBSCT to be successful, sufficient CD34+ cells need to be mobilized and harvested. Although risk factors associated with poor mobilization in patients with hematologic diseases have been reported, studies of patients with non-hematologic diseases and those receiving plerixafor are rare. To identify factors associated with poor mobilization, data from autologous PBSC harvest (PBSCH) in 491 patients were retrospectively collected and analyzed. A multivariate analysis revealed that in patients with a hematologic disease, an age older than 60 years (odds ratio [OR] 1.655, 95% confidence interval [CI] 1.049–2.611, p = 0.008), the use of myelotoxic agents (OR 4.384, 95% CI 2.681–7.168, p < 0.001), and a low platelet count (OR 2.106, 95% CI 1.205–3.682, p = 0.009) were associated with poor mobilization. In patients with non-hematologic diseases, a history of radiation on the pelvis/spine was the sole associated factor (OR 12.200, 95% CI 1.934–76.956, p = 0.008). Among the group of patients who received plerixafor, poor mobilization was observed in 19 patients (19/134, 14.2%) and a difference in the mobilization regimen was noted among the good mobilization group. These results show that the risk factors for poor mobilization in patients with non-hematologic diseases and those receiving plerixafor differ from those in patients with hematologic diseases; as such, non-hematologic patients require special consideration to enable successful PBSCH.

Background Hemophilia is a rare bleeding disorder that requires thorough investigation to understand its epidemiology, natural history, and the medical environment in which patients receive care. A patient registry is pivotal for such investigations. We established the first comprehensive hemophilia registry in Korea and reported preliminary baseline characteristics in 2022, with a total of 625 registered patients. We have now completed the first stage of the registry and present the final results of this initial phase. Methods We developed the registry platform using iCReaT (Internet-based Clinical Research and Trial Management System) operated by the National Institute of Health in Korea. The registry is designed as a combined retrospective and prospective study for bleeding disorders. In the first stage, we collected retrospective data to provide an overview of the clinical status and epidemiology of bleeding disorders in Korea. Seven major institutions for hemophilia care in Korea participated in the establishment of the registry, which is open for participation from other centers across Korea. Data collection was conducted under the approval of the Institutional Review Board at each participating institution. Results As of July 2024, a total of 2922 patients were registered, capturing a nearly complete picture of hemophilia in Korea. The current age of this cohort is 38.2 ± 18.9 years (mean) and 36.4 years (median) [IQR, 24.2; 51.6]. Geographic distribution includes Seoul (646, 22.1%), Gyunggi (735, 25.2%), Gwangju (146, 5.0%), Chonnam (124, 4.2%), Incheon (170, 5.8%), Ulsan (50, 1.7%), among others. Hemophilia types were distributed as follows: hemophilia A (2120, 72.6%), hemophilia B (536, 18.3%), factor 7 deficiency (60, 2.1%), hemophilia C (41, 1.4%), factor 1 deficiency (7, 0.2%), and others. Severe hemophilia was observed in 66.0% (1399) of hemophilia A cases and 48.3% (259) of hemophilia B cases. Prophylaxis was performed in 74.0% (1568) of hemophilia A and 68.5% (367) of hemophilia B patients. A total of 1242 orthopedic procedures were performed in 1108 patients, with the most frequent sites of operation being the right knee (241) and right ankle (196) in hemophilia A, and the right knee (32) and right ankle (27) in hemophilia B. Joint replacement surgery was conducted 334 times in hemophilia A and 42 times in hemophilia B. Chronic viral infections included hepatitis C (393, 18.5% in hemophilia A; 68, 12.7% in hemophilia B) and HIV (7, 0.3% in hemophilia A; 18, 3.4% in hemophilia B). Conclusion We have completed the first phase of registration for the hemophilia registry in Korea. In this comprehensive analysis, 2922 patients were registered, representing a 4.5-fold increase since 2022. We described the baseline characteristics of the hemophilia registry and are now proceeding to the second phase, which will involve prospective observation. This registry data significantly enhances our understanding of hemophilia in Korea and serves as a cornerstone for future clinical studies aimed at improving the survival and quality of life of patients with hemophilia.

PURPOSE:The Korean Society of Pediatric Neuro-Oncology (KSPNO) conducted treatment strategies for children with medulloblastoma (MB) by using alkylating agents for maintenance chemotherapy or tandem high-dose chemotherapy (HDC) with autologous stem cell rescue (ASCR) according to the risk stratification. The purpose of the study was to assess treatment outcomes and complications based on risk-adapted treatment and HDC.MATERIALS AND METHODS:Fifty-nine patients diagnosed with MB were enrolled in this study. Patients in the standard-risk (SR) group received radiotherapy (RT) after surgery and chemotherapy using the KSPNO M051 regimen. Patients in the high-risk (HR) group received two and four chemotherapy cycles according to the KSPNO S081 protocol before and after reduced RT for age following surgery and two cycles of tandem HDC with ASCR consolidation treatment.RESULTS:In the SR group, 24 patients showed 5-year event-free survival (EFS) and overall survival (OS) estimates of 86.7% (95% confidence interval [CI], 73.6 to 100) and 95.8% (95% CI, 88.2 to 100), respectively. In the HR group, more infectious complications and mortality occurred during the second HDC than during the first. In the HR group, the 5-year EFS and OS estimates were 65.5% (95% CI, 51.4 to 83.4) and 72.3% (95% CI, 58.4 to 89.6), respectively.CONCLUSION:High intensity of alkylating agents for SR resulted in similar outcomes but with a high incidence of hematologic toxicity. Tandem HDC with ASCR for HR induced favorable EFS and OS estimates compared to those reported previously. However, infectious complications and treatment-related mortalities suggest that a reduced chemotherapy dose is necessary, especially for the second HDC.

Abstract Background Assessment of measurable residual disease (MRD) is an essential prognostic tool for B-lymphoblastic leukaemia (B-ALL). In this study, we evaluated the utility of next-generation sequencing (NGS)–based MRD assessment in real-world clinical practice. Method The study included 93 paediatric patients with B-ALL treated at our institution between January 2017 and June 2022. Clonality for IGH or IGK rearrangements was identified in most bone marrow samples (91/93, 97.8%) obtained at diagnosis. Results In 421 monitoring samples, concordance was 74.8% between NGS and multiparameter flow cytometry and 70.7% between NGS and reverse transcription-PCR. Elevated quantities of clones of IGH alone (P < 0.001; hazard ratio [HR], 22.2; 95% confidence interval [CI], 7.1–69.1), IGK alone (P = 0.011; HR, 5.8; 95% CI, 1.5–22.5), and IGH or IGK (P < 0.001; HR, 7.2; 95% CI, 2.6–20.0) were associated with an increased risk of relapse. Detection of new clone(s) in NGS was also associated with inferior relapse-free survival (P < 0.001; HR, 18.1; 95% CI, 3.0–108.6). Multivariable analysis confirmed age at diagnosis, BCR::ABL1-like mutation, TCF3::PBX1 mutation, and increased quantity of IGH or IGK clones during monitoring as unfavourable factors. Conclusion In conclusion, this study highlights the usefulness of NGS-based MRD as a routine assessment tool for prognostication of paediatric patients with B-ALL.

Purpose The advances in the treatment of retinoblastoma have enabled salvaging the globe in advanced stages with intra-arterial chemotherapy (IAC). We developed a strategy of alternate application of systemic intravenous chemotherapy (IVC) and IAC (referred to as alternate systemic IVC and IAC; ASIAC) to reduce central nervous metastases during IAC and examined its efficacy and safety in eye globe salvage in this study.Materials and Methods Between January 2010 and February 2021, 43 eyes of 40 patients received ASIAC treatment for retinoblastoma at the Yonsei Cancer Center, Yonsei University Health System. Their medical records were reviewed retrospectively to evaluate the eye salvage rate (ESR), defined from diagnosis to enucleation. High-risk retinoblastoma was defined as group D or E by the International Classification of Retinoblastoma.Results The study enrolled 38 and five cases of high-risk and low-risk retinoblastoma, respectively. In total, 178 IAC and 410 IVC courses were administered, with a median of 4 (interquartile range [IQR], 3.0 to 5.0) IAC and 9 (IQR, 6.0 to 11) IVC courses per eye, respectively. The 5-year ESR was 60.4%±8.7% for the whole cohort, 100% for low-risk retinoblastoma, and 53.6%±9.8% for high-risk retinoblastoma. Among those diagnosed since 2015, the 5-year ESR for high-risk retinoblastoma was 63.5%±14.0%. Fifteen eyes underwent enucleation; no viable tumor was found in three enucleated eyes. There were no deaths in this cohort.Conclusion Primary IAC-IVC (i.e., ASIAC) for patients with retinoblastoma was tolerable and effective in salvaging the eye and maintaining survival.

Pediatric Blood & CancerVolume 70, Issue 9 e30491 LETTER TO THE EDITOR Sustained deep partial response with axitinib and pembrolizumab in a patient with alveolar soft-part sarcoma: A case report and review of the literature Won Kee Ahn, Won Kee Ahn orcid.org/0000-0003-3668-7396 Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South Korea Department of Pediatric Hemato-Oncology, Yonsei Cancer Center, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorSeung Min Hahn, Seung Min Hahn Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South Korea Department of Pediatric Hemato-Oncology, Yonsei Cancer Center, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorHong In Yoon, Hong In Yoon orcid.org/0000-0002-2106-6856 Department of Radiation Oncology, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorSeung Hyun Kim, Seung Hyun Kim orcid.org/0000-0002-3878-1944 Department of Orthopedic Surgery, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorSang Kyum Kim, Sang Kyum Kim orcid.org/0000-0003-0768-9923 Department of Pathology, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorChuhl Joo Lyu, Chuhl Joo Lyu orcid.org/0000-0001-7124-7818 Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South Korea Department of Pediatric Hemato-Oncology, Yonsei Cancer Center, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorJung Woo Han, Corresponding Author Jung Woo Han [email protected] orcid.org/0000-0001-8936-1205 Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South Korea Department of Pediatric Hemato-Oncology, Yonsei Cancer Center, Yonsei University Health System, Seoul, South Korea Correspondence Jung Woo Han, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, 50 Yonsei-Ro, Seodaemun-Gu, Seoul 03722, Korea. Email: [email protected]Search for more papers by this author Won Kee Ahn, Won Kee Ahn orcid.org/0000-0003-3668-7396 Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South Korea Department of Pediatric Hemato-Oncology, Yonsei Cancer Center, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorSeung Min Hahn, Seung Min Hahn Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South Korea Department of Pediatric Hemato-Oncology, Yonsei Cancer Center, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorHong In Yoon, Hong In Yoon orcid.org/0000-0002-2106-6856 Department of Radiation Oncology, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorSeung Hyun Kim, Seung Hyun Kim orcid.org/0000-0002-3878-1944 Department of Orthopedic Surgery, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorSang Kyum Kim, Sang Kyum Kim orcid.org/0000-0003-0768-9923 Department of Pathology, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorChuhl Joo Lyu, Chuhl Joo Lyu orcid.org/0000-0001-7124-7818 Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South Korea Department of Pediatric Hemato-Oncology, Yonsei Cancer Center, Yonsei University Health System, Seoul, South KoreaSearch for more papers by this authorJung Woo Han, Corresponding Author Jung Woo Han [email protected] orcid.org/0000-0001-8936-1205 Division of Pediatric Hematology and Oncology, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul, South Korea Department of Pediatric Hemato-Oncology, Yonsei Cancer Center, Yonsei University Health System, Seoul, South Korea Correspondence Jung Woo Han, Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, 50 Yonsei-Ro, Seodaemun-Gu, Seoul 03722, Korea. Email: [email protected]Search for more papers by this author First published: 19 June 2023 https://doi.org/10.1002/pbc.30491 These authors contributed equally. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Paoluzzi L, Maki RG. Diagnosis, prognosis, and treatment of alveolar soft-part sarcoma: a review. JAMA Oncol. 2019; 5(2): 254-260. 2Orbach D, Brennan B, Casanova M, et al. 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Juvenile myelomonocytic leukemia (JMML) is a life-threatening myeloproliferative neoplasm. The chemotherapeutic effect on survival remains unclear, and feasible standardized response criteria are yet to be established. We aimed to evaluate the chemotherapeutic response and its effect on survival in patients with JMML. A retrospective registry was reviewed for children diagnosed with JMML between 2000 and 2019. Response was assessed according to the criteria proposed by the International JMML Symposium in 2007 (criteria I) and the updated version in 2013 with its modifications (criteria II). A total of 73 patients were included in this study. Complete response (CR) rates were 46.6% and 28.8% using the criteria I and criteria II, respectively. A platelet count ≥ 40 × 109/L at diagnosis was associated with higher CR rates using the criteria II. Patients with criteria I-based CR had a better overall survival (OS) than those without CR (81.1% vs. 49.1% at 5 years). Patients with criteria II-based CR showed better OS (85.7% vs. 55.5% at 5 years) and event-free survival (EFS) (71.1% vs. 44.7% at 5 years) than those without CR. Additionally, a trend toward better EFS was observed in patients with criteria II-based CR than in those with criteria I-based CR but without criteria II-based CR (71.1% vs. 53.8% at 5 years). Chemotherapeutic response is associated with better survival outcomes. Along with splenomegaly, the addition of platelet count recovery, existence of extramedullary leukemic infiltration, and more stringent leukocyte counts to the response criteria allows for a more sensitive prediction of survival outcomes.

Background Hereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of circulating red blood cells (RBCs). The destruction of RBCs may be due to membranopathies, enzymopathies, or hemoglobinopathies. Because these are genetic disorders, incorporation of next-generation sequencing (NGS) has facilitated the diagnostic process of HHA. Method Genetic data from 29 patients with suspected hereditary anemia in a tertiary hospital were retrospectively reviewed to evaluate the efficacy of NGS on hereditary anemia diagnosis. Targeted NGS was performed with custom probes for 497 genes associated with hematologic disorders. After genomic DNA was extracted from peripheral blood, prepared libraries were hybridized with capture probes and sequenced using NextSeq 550Dx (Illumina, San Diego, CA, USA). Result Among the 29 patients, ANK1 variants were detected in five, four of which were pathogenic or likely pathogenic variants. SPTB variants were detected in six patients, five of which were classified as pathogenic or likely pathogenic variants. We detected g6pd pathogenic and spta1 likely pathogenic variants in two patients and one patient, respectively. Whole-gene deletions in both HBA1 and HBA2 were detected in two patients, while only HBA2 deletion was detected in one patient. One likely pathogenic variant in PLKR was detected in one patient, and one likely pathogenic variant in ALAS2 was detected in another. Conclusion Here, NGS played a critical role in definitive diagnosis in 18 out of 29 patients (62.07%) with suspected HHA. Thus, its incorporation into the diagnostic workflow is crucial.

Background : : Hemophilia requires a lifetime care for bleeding control and complications. Although patients diagnosed with hemophilia receive factor replacement, they also experience a variety of medical problems as they age. Elective surgery can be performed through appropriate factor replacement during and after surgery. However, for patients with inhibitors, this remains a problem to be overcome. Methods : : Patients treated for congenital bleeding disorders between 2008 and 2021 were enrolled in this study. The patients were classified according to the type, severity, and presence of inhibitors. The patients underwent planned coagulation factor replacement depending on the type of surgery. Results : : A total of 232 patients treated for congenital bleeding disorders were enrolled. Among them hemophilia A was most prevalent, followed by hemophilia B. In total, 78 of the patients underwent surgery, including 31 major and 55 minor surgeries. Orthopedic surgery was the most common surgery, and patients with inhibitors had significantly more postoperative hospitalization days. Nine patients were incidentally diagnosed. Twelve patients with hemophilia with inhibitors underwent surgery, and 6 of them experienced post-operative complications. Conclusion : : Proper surgical planning and monitoring with a multidisciplinary team will be required for appropriate perioperative management of patients with hemophilia, especially in patients with inhibitor and elderly hemophilia patients.

Purpose Although relatively new in Asian countries, fertility preservation (FP) discussions are crucial for adolescent and young adult (AYA) cancer patients. This study highlights patients' and their caregivers' perceptions of communications quality during FP discussions in Korea. Methods Participants were AYA patients and their caregivers (each: n = 34). The study examined the clinical pathways for FP and used surveys to collect details on discussion characteristics and satisfaction levels during FP discussions at the Yonsei Cancer Center, Seoul, Korea. Quality and degree of satisfaction with FP discussions were measured on a scale ranging from 1 to 7. Results Two caregivers did not complete the survey. All respondents reported high overall satisfaction; however, several factors were related to low satisfaction with information quality. Caregivers who received both verbal communication and nonverbal communication tools (e.g., pamphlets, Internet resources) were more satisfied with the information quality than those who only received verbal communication. Regarding provider type, both respondent groups reported high overall satisfaction with physicians, rather than other types of care providers. Regarding the number of discussion sessions, respondents reported an improved understanding of FP and better communication and information quality if they participated in more than one discussion session. Conclusion The FP process for AYA cancer patients can be improved by adjusting the type of provider, number of discussion sessions, and types of information. This will form the cornerstone of effective FP communication in Korea.

Background: Hemophilia is the rare bleeding disorders. To investigate the epidemiology, natural history and medical environment of hemophilia, the patient registry is the pivotal research design. Many developed countries have their own registry data and published valuable clinical data on the bleeding disorders. For now, there was no nationwide bleeding disorder registry except for the data from the registration program of Korea Hemophilia Foundation (KHF). We developed the first registry for the bleeding disorders in Korea with the funding from the Korean Society of Pediatric Hemato-Oncology (KSPHO) and KHF. We reported the initial interim results on the registry at International Conference of Korean Society of Hematology (ICKSH) in Apr 2022. Here we report the follow-up results on the hemophilia from the registry Method: We developed the registry platform using iCReaT(Internet based Clinical Research and Trial management system) operated by National Institute of Health in Korea. The registry was designed as the combined retrospective and prospective study for bleeding disorders. At the first stage we first collected data in retrospective fashion to overview the clinical status and epidemiology of bleedingdisorders in Korea. The data was collected under the approval of Institutional Review Board at each participating institution. Results: As of July 2022, total 625 patients were registered and this is about 1 of thirds of the population of hemophilia in Korea. The current age of this cohort was mean 29.7 ± 19.9, median 26.5 [IQR, 12.7;44.1] years old. Geographic distribution was Seoul (142, 22.7%), Gyunggi (133, 21.3%), Gwangju (101, 16.1%), Chonnam (96, 15.4%), Inchon 53 (8.4%), Ulsan 18 (2.9%) and others. The types of hemophilia were hemophilia A (409, 65.4%), hemophilia B (164, 26.4%), factor 7 deficiency 17 (2.7%), hemophilia C (15, 2.4%), and others. For the severity of hemophilia, 56.7% and 47.0% of hemophilia A and B were severe hemophilia, respectively. In 431 patients, only 50 patients (8%) had genetic variant information. For proportion of prophylaxis, 68.7% of hemophilia A and 51.8% of hemophilia B received prophylaxis. Total 109 patients underwent joint operation for arthropathy. For viral infection, the patients had hepatitis C in 127, hepatitis B in 59 patients and HIV in 4 patients. Conclusion: In this interim analysis of registry, 625 patients were registered. We described the baseline characteristics of hemophilia registry. This registry data will contribute the better understating on the detailed features of hemophilia in Korea and be cornerstone for further clinical studies to improve survival and quality of life of hemophilia.