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Current insights into inherited bone marrow failure syndromes
Chung, Nack-Gyun,Kim, Myungshin The Korean Pediatric Society 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.8
Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs have identified multiple genes associated with IBMFSs and their pathways: genes involved in ribosome biogenesis, such as those associated with Diamond-Blackfan anemia and Shwachman-Diamond syndrome; genes involved in telomere maintenance, such as dyskeratosis congenita genes; genes encoding neutrophil elastase or neutrophil adhesion and mobility associated with severe congenital neutropenia; and genes involved in DNA recombination repair, such as those associated with Fanconi anemia. Early and adequate genetic diagnosis is required for proper management and follow-up in clinical practice. Recent advances using new molecular technologies, including next generation sequencing (NGS), have helped identify new candidate genes associated with the development of bone marrow failure. Targeted NGS using panels of large numbers of genes is rapidly gaining potential for use as a cost-effective diagnostic tool for the identification of mutations in newly diagnosed patients. In this review, we have described recent insights into IBMFS and how they are advancing our understanding of the disease's pathophysiology; we have also discussed the possible implications they will have in clinical practice for Korean patients.
The treatment of pediatric chronic myelogenous leukemia in the imatinib era
Lee, Jae-Wook,Chung, Nack-Gyun The Korean Pediatric Society 2011 Clinical and Experimental Pediatrics (CEP) Vol.54 No.3
Childhood chronic myelogenous leukemia (CML) is a rare hematologic disease, with limited literature on the methods of treatment. Previously, allogeneic hematopoietic stem cell transplantation (HSCT) was considered the only curative treatment for this disease. Treatment with imatinib, a selective inhibitor of the BCR-ABL tyrosine kinase (TKI), has resulted in prolonged molecular response with limited drug toxicity. Imatinib is now implemented in the primary treatment regimen for children, but the paucity of evidence on its ability to result in permanent cure and the potential complications that may arise from long-term treatment with TKIs have prevented imatinib from superseding HSCT as the primary means of curative treatment in children. The results of allogeneic HSCT in children with CML are similar to those observed in adults; HSCT-related complications such as transplant-related mortality and graft-versus-host disease remain significant challenges. An overall consensus has been formed with regards to the need for HSCT in patients with imatinib resistance or those with advanced-phase disease. However, issues such as when to undertake HSCT in chronic-phase CML patients or how best to treat patients who have relapsed after HSCT are still controversial. The imatinib era calls for a reevaluation of the role of HSCT in the treatment of CML. Specific guidelines for the treatment of pediatric CML have not yet been formulated, underscoring the importance of prospective studies on issues such as duration of imatinib treatment, optimal timing of HSCT and the type of conditioning utilized, possible treatment pre-and post-HSCT, and the role of second-generation TKIs.
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
Lee, Eu Kyoung,Eem, Yeun-Joo,Chung, Nack-Gyun,Kim, Myung Shin,Jeong, Dae Chul The Korean Pediatric Society 2013 Clinical and Experimental Pediatrics (CEP) Vol.56 No.6
Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs$^*21$) as a hemizygous form.
Ja Un Moon,Joo Young Lee,Jae Wook Lee,Nack Gyun Chung,Bin Cho,In Goo Lee 대한소아신경학회 2021 대한소아신경학회지 Vol.29 No.3
Purpose: The aim of this study was to assess the incidence of seizures, clinical manifestations, and risk factors that could predict the occurrence of seizures after hematopoietic stem cell trans-plantation (HSCT) in children. Methods: The study group consisted of 543 patients (311 males and 232 females) registered at the Catholic University of Korea’s Seoul St. Mary’s Hospital who received HSCT before the age of 18 from January 2009 to January 2019. Their medical records and test results were retrospective-ly reviewed. Results: The incidence of seizure after HSCT was 6.6% and the average age of seizure patients was 8.33±5.5 years. The use of calcineurin inhibitors combined with methotrexate as prophylaxis for graft versus host disease (GVHD) was a statistically significant risk factor for seizures (P=0.006). Pediatric patients with grade 2–4 acute GVHD (P=0.003) also showed a higher incidence of seizures than those with grade 0–1 acute GVHD after HSCT. Conclusion: Our findings indicate that among pediatric patients who underwent HSCT, using calcineurin inhibitors with methotrexate as a conditioning regimen and a higher grade (≥2) of acute GVHD are risk factors of seizures.
Yoon, Jong-seo,Chun, Yoon Hong,Lee, Jae Wook,Chung, Nack Gyun,Cho, Bin Wolters Kluwer Health, Inc. All rights reserved. 2015 Journal of pediatric hematology/oncology Vol.37 No.8
Bronchiolitis obliterans syndrome (BOS) is a chronic graft-versus-host disease that occurs in the lungs after hematopoietic stem cell transplantation (HSCT). Serial screening pulmonary function test (PFT) is recommended after transplantation for early diagnosis of BOS. However, little is known about the value or the optimum methods of serial PFT in this context. One hundred and 10 consecutive patients of 6 to 17 years of age at the time of transplantation who underwent allogeneic HSCT were recruited for this study. Screening PFTs were performed 1 week before transplantation and 3, 6, 9, and 12 months after transplantation. When findings of obstructive lung disease were found on PFT, chest high-resolution computed tomography was performed. Of the 110 patients, 5 (4.5%) developed BOS. Of the 5 patients who developed BOS, 2 patients were diagnosed early by screening PFT. However, screening PFT did not allow for early diagnosis of BOS in the other 3 patients because BOS developed after 12 months of transplantation, which is beyond the PFT screening period. In conclusion, trimonthly PFTs performed through 12 months after transplantation in patients who underwent allogeneic HSCT helped in the early diagnosis of BOS; however, there are some limitations to this screening protocol. Future studies will aid in the development of a new screening protocol that can subsequently be evaluated.
Jeong Min Kim,Hyun Mi Kang,In Hyuk Yoo,Dong-Gun Lee,Nack-Gyun Chung,Bin Cho 대한소아소화기영양학회 2023 Pediatric gastroenterology, hepatology & nutrition Vol.26 No.4
Gastrointestinal (GI) bleeding is a rare adverse event of dasatinib, which is known to be caused by dasatinib-induced colitis, severe thrombocytopenia, and platelet dysfunction. We present two cases of pediatric patients who developed hematochezia during treatment with dasatinib after hematopoietic stem cell transplantation (HSCT). A colonic tissue biopsy was performed to differentiate the cause of GI bleeding. Both patients were diagnosed with proven cytomegalovirus (CMV) colitis, but only one was treated with ganciclovir. The patient who did not receive antiviral therapy experienced recurrent GI bleeding during dasatinib administration, leading to multiple treatment interruptions. During dasatinib therapy after HSCT, patients with GI bleeding and confirmed CMV colitis may benefit from antiviral therapy to reduce interruptions in dasatinib therapy.
Shin Chungwoo,Jang Min Jeong,Kim Seongkoo,Lee Jae Wook,Chung Nack-Gyun,Cho Bin,Jung Min Ho,Suh Byung-Kyu,Ahn Moon Bae 대한소아내분비학회 2023 Annals of Pediatirc Endocrinology & Metabolism Vol.28 No.2
Purpose: Survivors of childhood leukemia are at risk of growth impairment due to intensive chemotherapy and radiation treatments. This study investigated the auxological and biochemical characteristics of childhood leukemia survivors diagnosed with growth hormone deficiency (GHD) and the changes in these parameters after 1 year of growth hormone (GH) treatment. Methods: A total of 24 children diagnosed with GHD after leukemia treatment was analyzed. Clinical and biochemical data were collected retrospectively at leukemia diagnosis, GHD diagnosis, and 1 year after GH treatment. Standard deviation score (SDS) was calculated based on the age- and gender-adjusted population. Results: Of the 24 children included in this study, 19 received GH treatment. The median age at GHD diagnosis was 12.3 years, and the median delay in bone age was 1.46 years. Height SDS decreased from -0.69 at leukemia diagnosis to -2.58 at GHD diagnosis (P<0.001). The change in height SDS with and without GH for 1 year was 0.35 and -0.21, respectively (P=0.044). In regression analyses, higher height SDS at GHD diagnosis and a smaller decrease of the height SDS between leukemia and GHD diagnoses were positively correlated with height SDS after GH treatment. Conclusion: GH treatment could be beneficial and safe for improving height in childhood leukemia survivors with GHD. Height SDS at GHD diagnosis and reduction of height SDS between leukemia and GHD diagnosis could be potential factors in predicting the therapeutic effects. Close auxological monitoring is recommended for any childhood leukemia survivors who experience posttreatment height decline.