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1.
Yonsei Medical Journal ; : 1064-1067, 2020.
Article in English | WPRIM | ID: wpr-833330

ABSTRACT

Hemoglobin M (HbM) is a group of abnormal hemoglobin variants that form methemoglobin, which leads to cyanosis and hemolytic anemia. HbM-Milwaukee-2 is a rare variant caused by the point mutation CAC>TAC on codon 93 of the hemoglobin subunit beta (HBB) gene, resulting in the replacement of histidine by tyrosine. We here report the first Korean family with HbM-Milwaukee-2, whose diagnosis was confirmed by gene sequencing. A high index of suspicion for this rare Hb variant is necessary in a patient presenting with cyanosis since childhood, along with methemoglobinemia and a family history of cyanosis.

2.
Article in English | WPRIM | ID: wpr-831569

ABSTRACT

Background@#Hodgkin's lymphoma (HL) constitutes 10%–20% of all malignant lymphomas and has a high cure rate (5-year survival, around 90%). Recently, interest has increased concerning preventing secondary complications (secondary cancer, endocrine disorders) in long-term survivors. We aimed to study the epidemiologic features and therapeutic outcomes of HL in children, adolescents, and young adults in Korea. @*Methods@#We performed a multicenter, retrospective study of 224 patients aged < 25 years diagnosed with HL at 22 participating institutes in Korea from January 2007 to August 2016. @*Results@#A higher percentage of males was diagnosed at a younger age. Nodular sclerosis histopathological HL subtype was most common, followed by mixed cellularity subtype.Eighty-one (36.2%), 101 (45.1%), and 42 (18.8%) patients were classified into low, intermediate, and high-risk groups, respectively. Doxorubicin, bleomycin, vinblastine, dacarbazine was the most common protocol (n = 102, 45.5%). Event-free survival rate was 86.0% ± 2.4%, while five-year overall survival (OS) rate was 96.1% ± 1.4%: 98.7% ± 1.3%, 97.7% ± 1.6%, and 86.5% ± 5.6% in the low, intermediate, and high-risk groups, respectively (P = 0.021). Five-year OS was worse in patients with B-symptoms, stage IV disease, highrisk, splenic involvement, extra-nodal lymphoma, and elevated lactate dehydrogenase level.In multivariate analysis, B-symptoms and extra-nodal involvement were prognostic factors for poor OS. Late complications of endocrine disorders and secondary malignancy were observed in 17 and 6 patients, respectively. @*Conclusion@#This is the first study on the epidemiology and treatment outcomes of HL in children, adolescents, and young adults in Korea. Future prospective studies are indicated to develop therapies that minimize treatment toxicity while maximizing cure rates in children, adolescents, and young adults with HL.

3.
Article | WPRIM | ID: wpr-831549

ABSTRACT

Background@#Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean Society of Hematology established and updated the standard operating procedure for making an accurate diagnosis of HHA since 2007. The aim of this study was to investigate a nationwide epidemiology of Korean HHA. @*Methods@#We collected the data of a newly diagnosed pediatric HHA cohort (2007–2016) and compared this cohort's characteristics with those of a previously surveyed pediatric HHA cohort (1997–2006) in Korea. Each participant's information was retrospectively collected by a questionnaire survey. @*Results@#A total of 369 children with HHA from 38 hospitals distributed in 16 of 17 districts of Korea were investigated. RBC membranopathies, hemoglobinopathies, RBC enzymopathies, and unknown etiologies accounted for 263 (71.3%), 59 (16.0%), 23 (6.2%), and 24 (6.5%) of the cases, respectively. Compared to the cohort from the previous decade, the proportions of hemoglobinopathies and RBC enzymopathies significantly increased (P < 0.001 and P = 0.008, respectively). Twenty-three of the 59 hemoglobinopathy patients had immigrant mothers, mostly from South-East Asia. @*Conclusion@#In Korea, thalassemia traits have increased over the past 10 years, reflecting both increased awareness of this disease and increased international marriages. The enhanced recognition of RBC enzymopathies is due to advances in diagnostic technique; however, 6.5% of HHA patients still do not have a clear diagnosis. It is necessary to improve accessibility of diagnosing HHA.

4.
Article | WPRIM | ID: wpr-831199

ABSTRACT

Disturbances in water and salt balances are relatively common in children afterbrain tumor surgery. However, the coexistence of different diseases of water andsodium homeostasis is challenging to diagnose and treat. The coexistence ofcombined central diabetes insipidus (CDI) and cerebral salt wasting syndrome(CSWS) is rare and may impede accurate diagnosis. Herein, we report the case ofan 18-year-old girl who underwent surgery for a germinoma and who presentedprolonged coexistence of CDI and CSWS. The patient was diagnosed with panhypopituitarismwith CDI at presentation and was treated with hydrocortisone, levothyroxine,and desmopressin. Postoperatively, she developed polyuria of morethan 3L/day, with a maximum daily urine output of 7.2 L/day. Her serum sodiumlevel decreased from 148 to 131 mEq/L. Polyuria was treated with desmopressin atincremental doses, and hyponatremia was managed with fluid replacement. At 2months after surgery, she presented with hyponatremia-induced seizure. Polyuriaand hyponatremia combined with natriuresis indicated CSWS. Treatment with fludrocortisonewere initiated; then, her electrolyte level gradually normalized. CSWSis self-limiting and generally resolves within 2 weeks. However, the patient in thisstudy still required treatment with vasopressin and fludrocortisone at 16-monthsafter surgery.Hyponatremia in a patient with CDI may be erroneously interpretedas inadequateCDI control or syndrome of inappropriate antidiuretic hormonesecretion, leading to inappropriate treatment. The identification of the potentialcombination of CDI and CSWS is important for early diagnosis and treatment.

5.
Article | WPRIM | ID: wpr-831028

ABSTRACT

From 2004 to 2020, we studied three pediatric patients (age: 9-13 years, all male) and one adult patient (age: 29 years, female) with tectal plate glioma with obstructing hydrocephalus on MRI. One patient had neurofibromatosis type 1. All patients complained about headaches and vomiting, and one patient had diplopia. Endoscopic third ventriculostomy (ETV) was underwent in all patients and a biopsy was obtained from two patients. Pathologic diagnoses were a pilocytic astrocytoma and a lowgrade glioma. After ETV with or without biopsy, neurological symptoms were improved in all patients.Three patients did the clinical and radiological follow-up without adjuvant treatment. One patient underwent gamma knife radiosurgery. In two pediatric patients and the adult patient, there was no clinical and radiological progression after 6.2, 6.9, and 8.0 years, respectively. One pediatric patient whose lesion had focal enhancement had radiologic progression without any neurologic symptoms after 5.1 years. Without adjuvant treatment for this lesion, there was no clinical deterioration neither further radiological progression for 6.2 years after radiological aggravation. Tectal plate gliomas showed indolent clinical courses, even after radiologic tumor progression. After the treatment of obstructing hydrocephalus, clinical and radiologic follow-up can be recommended for indolent tectal plate gliomas.

6.
Article in English | WPRIM | ID: wpr-810958

ABSTRACT

BACKGROUND: This study aimed to assess the outcome of stem cell transplantation (SCT), including overall survival (OS), failure-free survival (FFS) and graft-versus-host disease (GvHD)-free/failure-free survival (GFFS), and to analyze prognostic factors in children with aplastic anemia (AA).METHODS: From 1991 to 2018, 43 allogeneic SCT recipients were enrolled in the study to investigate the demographic characteristics, survival outcomes and prognostic factors.RESULTS: With the median follow-up of 7.1 years, the estimated 10-year OS, FFS, GFFS were 86.0%, 60.5%, and 51.2%, respectively. Matched related donors (MRD, n = 28) showed better 10-year OS than unrelated donors (n = 15) (96.4% vs. 66.7%; P = 0.006). Engraftment failure was seen in 13 patients (30.2%). Donor-type aplasia was seen in 13.8% (4/29) after fludarabine (Flu)-based conditioning (Flu-group), while in 42.6% (6/14) after cyclophosphamide (Cy)-based regimen (Cy-group) (P = 0.035). Six patients died. The 10-year OS in Cy-group was 92.9% (n = 14, all MRD), while that of Flu-group was 82.1% (n = 29; P = 0.367). But Flu-group tended to have better FFS and GFFS than Cy-group, although Flu-group had less MRDs (41.4% vs. 100%; P = 0.019), and higher proportion of previous immunosuppressive treatment (IST; 62% vs. 21.4%, P = 0.012). In MRD transplants, OS was similar between Flu-group (100%, n = 14) and Cy-group (92.9%, n = 14), while FFS (100.0% vs. 42.9%; P = 0.001) and GFFS (85.7% vs. 35.7%; P = 0.006) were significantly better in Flu-group. Stem cell sources, irradiation in the conditioning, and method of GvHD prophylaxis did not significantly influence the outcome.CONCLUSION: This study reviewed SCT outcomes for pediatric AA with changes of transplant strategies over the last 25 years. The FFS and GFFS were higher in Flu-group than in Cy-group, especially in matched related transplantation. Graft failure including donor-type aplasia remains troublesome even with Flu-based conditioning. Further refinement of transplant strategies to ensure better quality-of-life should be pursued.


Subject(s)
Anemia, Aplastic , Child , Cyclophosphamide , Follow-Up Studies , Graft vs Host Disease , Humans , Methods , Stem Cell Transplantation , Stem Cells , Tissue Donors , Transplants , Unrelated Donors
7.
Article in English | WPRIM | ID: wpr-719418

ABSTRACT

PURPOSE: Dexrazoxane has been used as an effective cardioprotector against anthracycline cardiotoxicity. This study intended to analyze cardioprotective efficacy and secondary malignancy development, and elucidate risk factors for secondary malignancies in dexrazoxane-treated pediatric patients. MATERIALS AND METHODS: Data was collected from 15 hospitals in Korea. Patients who received any anthracyclines, and completed treatment without stem cell transplantation were included. For efficacy evaluation, the incidence of cardiac events and cardiac event-free survival rates were compared. Data about risk factors of secondary malignancies were collected. RESULTS: Data of total 1,453 cases were analyzed; dexrazoxane with every anthracyclines group (D group, 1,035 patients) and no dexrazoxane group (non-D group, 418 patients). Incidence of the reported cardiac events was not statistically different between two groups; however, the cardiac event-free survival rate of patients with more than 400 mg/m2 of anthracyclines was significantly higher in D group (91.2% vs. 80.1%, p=0.04). The 6-year cumulative incidence of secondary malignancy was not different between both groups after considering follow-up duration difference (non-D, 0.52%±0.37%; D, 0.60%±0.28%; p=0.55). The most influential risk factor for secondary malignancy was the duration of anthracycline administration according to multivariate analysis. CONCLUSION: Dexrazoxane had an efficacy in lowering cardiac event-free survival rates in patients with higher cumulative anthracyclines. As a result of multivariate analysis for assessing risk factors of secondary malignancy, the occurrence of secondary malignancy was not related to dexrazoxane administration.


Subject(s)
Anthracyclines , Cardiotoxicity , Dexrazoxane , Disease-Free Survival , Follow-Up Studies , Humans , Incidence , Korea , Multivariate Analysis , Neoplasms, Second Primary , Risk Factors , Stem Cell Transplantation
8.
Blood Research ; : 63-73, 2019.
Article in English | WPRIM | ID: wpr-739432

ABSTRACT

BACKGROUND: Acute leukemia (AL), not clearly assigned to myeloid, B-lymphoid, or T-lymphoid lineage, is classified as either biphenotypic acute leukemia (BAL) based on the European Group for Immunological Classification of Leukemias (EGIL) or acute leukemia of ambiguous lineage (ALAL) encompassing acute undifferentiated leukemia (AUL) and mixed-phenotype acute leukemia (MPAL) based on the World Health Organization (WHO) criteria. METHODS: Medical records of children newly diagnosed with BAL or ALAL, based on the EGIL or the 2008/2016 WHO criteria, respectively, admitted at Chonnam National University Hospital in 2001–2017 were retrospectively reviewed. RESULTS: Twelve (3.2%) of 377 AL patients satisfied the BAL or ALAL definitions based on the EGIL or the WHO criteria, respectively. Among 12 patients including 11 with BAL and another with undefined case based on the EGIL criteria, 7 (1.9%) had ALAL based on more stringent 2016 WHO criteria (AUL, 2; MPAL, 5). One patient had MPAL with t(9;22)(q34;q11.2), BCR-ABL+, and two had MLL gene abnormality. ALL-directed regimen was associated with better complete remission rate compared with AML-directed regimen (100.0% vs. 16.7%; P=0.015). The 5-year overall survival (OS) and event-free survival (EFS) were 51.1±15.8% and 51.9±15.7%, respectively. AUL was associated with poor OS and EFS compared with MPAL (0.0% vs. 75.0±21.7%; P=0.008). CONCLUSION: Due to the rarity of the cases, future multicenter, prospective studies incorporating large number of cases are urgently warranted to identify the clinical, biologic, and molecular markers for the prediction of prognosis and determine the best tailored therapy for each patient.


Subject(s)
Child , Classification , Disease-Free Survival , Humans , Immunophenotyping , Leukemia , Leukemia, Biphenotypic, Acute , Medical Records , Prognosis , Prospective Studies , Retrospective Studies , World Health Organization
9.
Article in English | WPRIM | ID: wpr-763512

ABSTRACT

Hepatic osteodystrophy is frequent complication in patients with chronic liver disease, particularly with chronic cholestasis. We report a male infant with congenital hepatoblastoma, who had osteodystrophy complicated by multiple bone fractures despite adequate supplementation of fat-soluble vitamins including vitamin D. He was born by Caesarean section because of a 7 cm–sized abdominal mass detected by prenatal ultrasonography. The pathologic diagnosis was hepatoblastoma, PRETEXT staging III or IV. Whole body bone scan at the time of diagnosis showed no abnormal uptake. Oral vitamin D3 of 2,000 IU/day was administered with other fat-soluble vitamins. Serum direct bilirubin level gradually increased up to 28.9 mg/dL at postnatal 6 days and was above 5 mg/dL until 110 days of age. Bony changes consistent with rickets became apparent in left proximal humerus since 48 days of age, and multiple bone fractures developed thereafter. With resolving cholestasis by chemotherapy, his bony lesions improved gradually after add-on treatment of bisphosphonate and parenteral administration of vitamin D with calcium. High level of suspicion and prevention of osteodystrophy is needed in patients with hepatoblastoma, especially when cholestasis persists.


Subject(s)
Bilirubin , Calcium , Cesarean Section , Cholecalciferol , Cholestasis , Diagnosis , Drug Therapy , Female , Fractures, Bone , Hepatoblastoma , Humans , Humerus , Infant , Liver Diseases , Male , Pregnancy , Rickets , Ultrasonography, Prenatal , Vitamin D , Vitamins
10.
Blood Research ; : 198-203, 2019.
Article in English | WPRIM | ID: wpr-763077

ABSTRACT

BACKGROUND: The efficacy and safety of extended half-life, full-length, pegylated recombinant factor VIII rurioctocog alfa pegol [BAX 855, ADYNOVATE (USA)/ADYNOVI (Europe); Baxalta US Inc., a Takeda company, Lexington, MA, USA] was investigated in previously treated Korean patients with severe hemophilia A (HA). METHODS: A post hoc data analysis from the international, multicenter, phase 2/3 PROLONG-ATE study of rurioctocog alfa pegol in patients with severe HA (NCT01736475) determined annualized bleeding rates (ABRs) and rates of adverse events (AEs) in Korean patients treated in this study. RESULTS: All 10 enrolled Korean patients receiving rurioctocog alfa pegol (9 prophylaxis, 1 on-demand) completed the study [median (range) age, 28.0 (12–50) yr; weight, 64.8 (45–90) kg; 8 patients had ≥1 target joint at screening]. Median (range) ABR was 1.9 (0.0–14.5) for patients on prophylaxis and 62.2 for the patient receiving on-demand treatment. The hemostatic efficacy of rurioctocog alfa pegol was rated “excellent” or “good” and only single infusions were required per bleeding episode. ABRs improved in most patients compared with prestudy values. No dose adjustments were required for prophylaxis, and the dosing frequency was reduced in 8 patients, compared with their previous prophylaxis regimen. No serious AEs were reported; all 9 nonserious AEs (in 3 patients) were mild in severity and unrelated to the study treatment. CONCLUSION: This post hoc analysis of a small group of Korean patients with severe HA indicated that rurioctocog alfa pegol was effective, and no serious AEs were observed. For most patients, the dosing frequency was also reduced compared with their previous regimen.


Subject(s)
Factor VIII , Half-Life , Hemophilia A , Hemorrhage , Humans , Joints , Statistics as Topic
11.
Blood Research ; : 25-34, 2018.
Article in English | WPRIM | ID: wpr-713632

ABSTRACT

BACKGROUND: The prognosis of pediatric acute myeloid leukemia (AML) has recently improved. This study aimed to describe the epidemiology, changes in treatment strategies, and improvement of outcomes in Gwangju-Chonnam children with AML over 2 decades. METHODS: Medical records of 116 children with newly diagnosed AML were retrospectively reviewed for demographic characteristics, prognostic groups including cytogenetic risks, treatment protocols, and survival rates over the periods between 1996 and 2005 (Period I, N=53), and 2006 and 2015 (Period II, N=38). RESULTS: The annual incidence of AML has decreased with reduced pediatric population. The 5-year Kaplan-Meier (K-M) estimated overall survival (OS) and event-free survival (EFS) rates in 110 AML patients were 53.2±5.1% and 43.8±5.1%, respectively. The 5-year OS rate significantly improved during period II (70.3±7.0%) as compared to that during period I (40.0±6.8%) (P =0.001). The 5-year OS was not significantly different among cytogenetic risk groups (P =0.11). Fifty-eight patients underwent hematopoietic stem cell transplantation (HSCT). The K-M 5-year estimated survival for transplanted patients was 53.7±7.0%, while that for chemotherapy-only patients was 30.1±9.1% (P =0.014). Among the prognostic factors, treatment modality was the only independent factor. The chemotherapy-only group had a relative risk of 2.06 for death compared with the transplantation group (P=0.015). CONCLUSION: The survival of Korean children with AML has improved to a level comparable with that of developed countries over 2 decades, owing to a change in induction strategy, better supportive care with economic growth, refinement of HSCT techniques including a better selection of patients based on prognostic groups, and stem cell donor selection.


Subject(s)
Child , Clinical Protocols , Cytogenetics , Developed Countries , Disease-Free Survival , Donor Selection , Economic Development , Epidemiology , Hematopoietic Stem Cell Transplantation , Humans , Incidence , Leukemia, Myeloid, Acute , Medical Records , Prognosis , Retrospective Studies , Stem Cells , Survival Rate , Treatment Outcome
12.
Article in English | WPRIM | ID: wpr-788690

ABSTRACT

Surgery and radiotherapy are mainstays of treatment for ependymomas (EPNs). Recent molecular subgrouping could be superior to histopathological grading for predicting the prognosis of patients with EPNs. Gross total resection is an effective treatment approach regardless of its locations or pathologic grades. Adjuvant therapeutic strategies could be decided based on molecular subgrouping with risk-stratification. Information of histologic-molecular biology is now providing clues to therapeutic insights.


Subject(s)
Biology , Ependymoma , Global Health , Humans , Molecular Medicine , Prognosis , Radiotherapy , World Health Organization
13.
Article in English | WPRIM | ID: wpr-765260

ABSTRACT

Surgery and radiotherapy are mainstays of treatment for ependymomas (EPNs). Recent molecular subgrouping could be superior to histopathological grading for predicting the prognosis of patients with EPNs. Gross total resection is an effective treatment approach regardless of its locations or pathologic grades. Adjuvant therapeutic strategies could be decided based on molecular subgrouping with risk-stratification. Information of histologic-molecular biology is now providing clues to therapeutic insights.


Subject(s)
Biology , Ependymoma , Global Health , Humans , Molecular Medicine , Prognosis , Radiotherapy , World Health Organization
14.
Article in English | WPRIM | ID: wpr-717647

ABSTRACT

BACKGROUND: Few studies of high dose dexamethasone (HD-DXM) therapy in children with immune thrombocytopenic purpura (ITP) have been reported. The purpose of this study is to investigate efficacy and safety of repeated HD-DXM therapy as second-line treatment of ITP in childhood. METHODS: We retrospectively analyzed the medical records of patients < 18 years of age with primary ITP who received more than 2 cycles of HD-DXM therapy from May 2004 to January 2018. HD-DXM was given orally in 4-day pulses every 28 days as a 20–40 mg/1.73 m² daily dose. RESULTS: A total of 26 patients (male, 19; female, 7) were enrolled and their median age was 6 years (range, 1–15). All patients had received previous treatment for ITP. A median 6 cycles (range, 2–19) of HD-DXM was given. On the beginning of HD-DXM therapy, three patients satisfied the criteria for newly diagnosed ITP, 16 for persistent ITP and 7 for chronic ITP. Relapse-free survival (RFS) of responders (n=9) after the last HD-DXM cycle was estimated to be 38.1±17.2%, lasting for a median 9.1 months (range, 5.6–46.2). According to response after the 2nd cycle, RFS of responders (n=13) was significantly higher than non-responders (23.1±11.7% vs. 7.7%±7.4%, P=0.001). The most common adverse event was irritability (30.8%), followed by fatigue (19.2%). CONCLUSION: HD-DXM therapy in children was relatively tolerated and response after therapy was acceptable. More courses of HD-DXM may be feasible in responders after two cycles of HD-DXM.


Subject(s)
Child , Dexamethasone , Fatigue , Female , Humans , Medical Records , Purpura, Thrombocytopenic, Idiopathic , Retrospective Studies
15.
Article in Korean | WPRIM | ID: wpr-788614

ABSTRACT

BACKGROUND: von Willebrand disease (VWD) is the most common inherited bleeding disorder with a prevalence of up to 1%. However in Korea, only 126 VWD patients were registered in Korea Hemophilia Foundation (KHF). The aim of this study was to determine the status of VWD patients in Korea. We analyzed VWD patients by age, gender, blood group, family history and bleeding history.METHODS: One hundred twenty-six VWD patients registered in the KHF by December 2016, and 74 patients diagnosed at six university hospitals were enrolled in this study. We evaluated the medical records from the KHF and the questionnaires from six university hospitals retrospectively.RESULTS: Seventeen patients misdiagnosed and ten patients duplicated were excluded. One hundred nine patients registered in the KHF and 64 patients diagnosed at six university hospitals met the criteria for VWD. The blood type O accounts for 72 (51.8%). VWF mutation was detected in 30 patients (17.3%). Median age at diagnosis was 10.5 yr. The bleeding score of adults was higher than that of children (P < 0.001). The most common bleeding symptom was epistaxis (48.5%). The distribution of VWD types was: 67% of type 1, 30.1% of type 2, and 2.9% of type 3.CONCLUSION: Even though only six hospitals responded to the survey, 64 patients not registered in the KHF were diagnosed with VWD. Our results suggest the prevalence of Korean VWD might be higher than previously reported. A nationwide registration system is warranted in order to accurately identify the national prevalence of VWD.


Subject(s)
Adult , Child , Diagnosis , Epistaxis , Hemophilia A , Hemorrhage , Hospitals, University , Humans , Korea , Medical Records , Prevalence , Retrospective Studies , von Willebrand Diseases
16.
Article in Korean | WPRIM | ID: wpr-23112

ABSTRACT

BACKGROUND: von Willebrand disease (VWD) is the most common inherited bleeding disorder with a prevalence of up to 1%. However in Korea, only 126 VWD patients were registered in Korea Hemophilia Foundation (KHF). The aim of this study was to determine the status of VWD patients in Korea. We analyzed VWD patients by age, gender, blood group, family history and bleeding history. METHODS: One hundred twenty-six VWD patients registered in the KHF by December 2016, and 74 patients diagnosed at six university hospitals were enrolled in this study. We evaluated the medical records from the KHF and the questionnaires from six university hospitals retrospectively. RESULTS: Seventeen patients misdiagnosed and ten patients duplicated were excluded. One hundred nine patients registered in the KHF and 64 patients diagnosed at six university hospitals met the criteria for VWD. The blood type O accounts for 72 (51.8%). VWF mutation was detected in 30 patients (17.3%). Median age at diagnosis was 10.5 yr. The bleeding score of adults was higher than that of children (P < 0.001). The most common bleeding symptom was epistaxis (48.5%). The distribution of VWD types was: 67% of type 1, 30.1% of type 2, and 2.9% of type 3. CONCLUSION: Even though only six hospitals responded to the survey, 64 patients not registered in the KHF were diagnosed with VWD. Our results suggest the prevalence of Korean VWD might be higher than previously reported. A nationwide registration system is warranted in order to accurately identify the national prevalence of VWD.


Subject(s)
Adult , Child , Diagnosis , Epistaxis , Hemophilia A , Hemorrhage , Hospitals, University , Humans , Korea , Medical Records , Prevalence , Retrospective Studies , von Willebrand Diseases
17.
Article in Korean | WPRIM | ID: wpr-788586

ABSTRACT

BACKGROUND: Acute promyelocytic leukemia (APL) is rare in children, accounting for 5-7% of all acute myeloid leukemia (AML) cases. This study aimed to review clinical and laboratory characteristics of pediatric APL patients, and to analyze the therapeutic outcomes.METHODS: Twenty pediatric patients with APL, diagnosed from January 1998 to April 2016, were retrospectively reviewed. Clinical and laboratory findings were collected, and morphologic, immunophenotypic, cytogenetic and molecular characteristics were evaluated. Therapeutic outcomes and prognostic factors of patients were analyzed.RESULTS: The number of pediatric APL patients was 20, which was 18.5% of all the cases of AML. The 5-year overall survival (OS) and event-free survival (EFS) were 88.5±7.6% and 83.0±9.0%, respectively. As compared to typical APL patients, patients with microgranular variants (M3v) (n=4, 20%) showed a tendency for a younger age, low white blood cell counts, and a shorter prothrombin time (P=0.045), but their 5-year OS and EFS were not significantly different. Better survival was observed in ATRA plus chemotherapy group both for 5-year OS (100% vs. 60.0±21.9%, P=0.018), and for 5-year EFS (60.0±21.9% vs. 91.7±8.0%, P=0.080) than ATRA only group. Stem cell transplantations were given to 3 patients and they are alive without disease for 8.3-16.5 years of follow-up. One death after relapse, another death in remission and development of secondary leukemia were encountered during the study period.CONCLUSION: This study analyzed clinical characteristics of pediatric APL and demonstrated very good outcome with the combination of ATRA and chemotherapy.


Subject(s)
Adolescent , Child , Cytogenetics , Disease-Free Survival , Drug Therapy , Follow-Up Studies , Humans , Leukemia , Leukemia, Myeloid, Acute , Leukemia, Promyelocytic, Acute , Leukocyte Count , Prothrombin Time , Recurrence , Retrospective Studies , Stem Cell Transplantation
18.
Article in Korean | WPRIM | ID: wpr-788583

ABSTRACT

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) has been established as an important curative method in genetic rare diseases in children. However, adverse effects have been obstacles for successful outcomes. This study aims to review the transplant outcomes of genetic rare diseases over the last 2 decades, to analyze the prognostic factors that may affect outcome, and to suggest future perspective of HSCT in these diseases.METHODS: Seventeen patients younger than 18 years who were transplanted at Department of Pediatrics, Chonnam National University Hospital and Chonnam National University Hwasun Hospital from 1996 to 2015 were retrospectively reviewed. Outcomes were analyzed by donor source, intensity of conditioning [myeloablative conditioning (MAC) vs. reduced-intensity conditioning (RIC)], and disease type.RESULTS: The 5-year Kaplan-Meier overall survival (OS), and event-free survival (EFS) was 64.7±14.3% and 52.9±12.9%, respectively. Among subgroups, the 5-year OS was 61.5±15.8% after RIC as compared to 28.6±17.1% after MAC (P=0.27). The 5-year EFS was 60.0±25.0% after matched sibling donor transplants, 62.5±20.4% after mismatched related/unrelated bone marrow/peripheral blood stem cell transplants, and 28.6±17.1% after unrelated umbilical cord blood transplants, respectively. The 5-year OS according to disease type was as follows: 60.0±21.9% for Fanconi anemia, 50.0±25.0% for familial hemophagocytic lymphohisticytosis. All patients with primary immunodeficiency survived, but none with adrenoleukodystrophy.CONCLUSION: Although definitive conclusions cannot be drawn due to the limited number of cases, RIC may be preferred in select, genetic rare diseases. Better strategies are required to improve outcomes after cord blood transplantation. Moreover, special attention should be given to minimize late complications in children.


Subject(s)
Adrenoleukodystrophy , Child , Disease-Free Survival , Fanconi Anemia , Fetal Blood , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Humans , Methods , Pediatrics , Rare Diseases , Retrospective Studies , Siblings , Stem Cells , Tissue Donors
19.
Article in Korean | WPRIM | ID: wpr-788582

ABSTRACT

BACKGROUND: The aim of this study was to compare the outcomes of children with acute myeloid leukemia (AML) who received stem cell transplantation from different donor groups.METHODS: This study included 37 pediatric AML patients who received allogeneic stem cell transplantation from March 1996 to December 2012 at Chonnam National University Hospital and Chonnam National University Hwasun Hospital. The overall survival (OS), event-free survival (EFS), cumulative incidence (CI) of graft versus host disease (GvHD), relapse and transplant-related mortality (TRM) were compared between different donor groups.RESULTS: Transplant donor groups included matched sibling donor (MSD, n=15), unrelated donor (URD=13), unrelated umbilical cord blood (UCB, n=7), or haploidentical donor (HD, n=2). Twenty-six patients survived with a median follow-up of 7.3 years. The 7-year EFS rates were 80.0±10.3% in MSD, 69.2±12.8% in URD and 57.1±18.7% in UCB, and 0% in HD, respectively (P=0.019). The CI of relapse at 5 years was 20.0%, 15.4%, 33.3%, 50%, respectively (P=0.721). The CI of TRM at 2 years was 0%, 15.4%, 16.7%, 50.0%, respectively in each donor group (P=0.017). The CI of grade II-IV acute and extensive chronic GvHD were higher in UCB (P=0.003, P=0.020, respectively). There were no significant differences in OS, EFS, and CI of TRM and relapse between allele-mismatched URD and UCB.CONCLUSION: Despite the limitation of small number of patients, the comparable outcome of pediatric AML patients transplanted from alternative donor with those transplanted from MSD are encouraging. Especially, if a matched donor is not available, allele-mismatched URD or UCB transplant may offer the advantage of prompt availability for patients who urgently require transplantation.


Subject(s)
Child , Disease-Free Survival , Fetal Blood , Follow-Up Studies , Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Humans , Incidence , Leukemia, Myeloid, Acute , Mortality , Recurrence , Siblings , Stem Cell Transplantation , Tissue Donors , Unrelated Donors
20.
Article in Korean | WPRIM | ID: wpr-788571

ABSTRACT

Central nervous system germ cell tumor is a rare but important tumor in childhood brain tumors. It requires a multidisciplinary approach to increase survival and promote quality of life, and all three treatment modalities including surgery, radiotherapy and chemotherapy has its own distinct role for germ cell tumor. For germinoma, radiotherapy alone can cure the disease but, the effort to limit the long term toxicity and the proper combination of chemotherapy and radiotherapy are under investigation. Craniospinal irradiation is reserved only for the disseminated germinoma or nongerminomatous germ cell tumor (NGGCT). For germinoma, craniospinal irradiation of 20 to 24 Gy is sufficient to control microscopic disease in the spinal axis. Chemotherapy and radiotherapy composed of 30 to 40 Gy of local field radiotherapy and 20 to 24 Gy of whole ventricular irradiation are required for localized germinoma, but the proper combination of two modalities has yet to be defined. For NGGCT, both the chemotherapy and radiotherapy should be performed, and survival rate is substantially increasing with modern treatment protocols. The omission of craniospinal irradiation is being tried for the localized NGGCT in international cooperative group trials. Surgery has its role for the resection of residual disease after the treatment, and the extent of resection in NGGCT has the prognostic implication. Bifocal germ cell tumors and basal ganglia germ cell tumor have distinctive clinical course and mandate special attention. To advance clinical and biological perspectives in central nervous germ cell tumor, the cooperation and communication of the multidisciplinary specialists are essential.


Subject(s)
Axis, Cervical Vertebra , Basal Ganglia , Brain Neoplasms , Central Nervous System , Clinical Protocols , Craniospinal Irradiation , Drug Therapy , Germ Cells , Germinoma , Neoplasms, Germ Cell and Embryonal , Quality of Life , Radiotherapy , Specialization , Survival Rate
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