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1.
Br J Haematol ; 2024 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-38735735

RESUMO

Inherited bone marrow failure syndromes (IBMFS) pose significant diagnostic challenges due to overlapping symptoms and variable expressivity, despite evolving genomic insights. The study aimed to elucidate the genomic landscape among 130 Korean patients with IBMFS. We conducted targeted next-generation sequencing (NGS) and clinical exome sequencing (CES) across the cohort, complemented by whole genome sequencing (WGS) and chromosomal microarray (CMA) in 12 and 47 cases, respectively, with negative initial results. Notably, 50% (n = 65) of our cohort achieved a genomic diagnosis. Among these, 35 patients exhibited mutations associated with classic IBMFSs (n = 33) and the recently defined IBMFS, aplastic anaemia, mental retardation and dwarfism syndrome (AmeDS, n = 2). Classic IBMFSs were predominantly detected via targeted NGS (85%, n = 28) and CES (88%, n = 29), whereas AMeDS was exclusively identified through CES. Both CMA and WGS aided in identifying copy number variations (n = 2) and mutations in previously unexplored regions (n = 2). Additionally, 30 patients were diagnosed with other congenital diseases, encompassing 13 distinct entities including inherited thrombocytopenia (n = 12), myeloid neoplasms with germline predisposition (n = 8), congenital immune disorders (n = 7) and miscellaneous genomic conditions (n = 3). CES was particularly effective in revealing these diverse diagnoses. Our findings underscore the significance of comprehensive genomic analysis in IBMFS, highlighting the need for ongoing exploration in this complex field.

2.
J Pediatr Hematol Oncol ; 44(3): e713-e718, 2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-35319510

RESUMO

PURPOSE: Extramedullary infiltration (EMI) is a rare condition defined by the accumulation of myeloid tumor cells beyond the bone marrow. The clinical significance is still controversial. This study was aimed to evaluate the incidence, characteristics, and prognostic significance of EMI on complete magnetic resonance imaging (MRI) investigation in newly diagnosed pediatric acute myeloid leukemia (AML) patients who are asymptomatic without clinical evidence to suspect EMI. MATERIALS AND METHODS: Retrospective clinical and radiologic review of 121 patients with MRI examination at the time of initial diagnosis of AML without any clinical evidence suggestive of EMI was performed. Patients were divided into 2 groups according to the presence or absence of EMI, and the relationship between EMI and established risk factors was analyzed. Initial white blood cell count, the occurrence of an event (including relapse, death, and primary refractory disease), survival status, and detailed information on cytogenetic/molecular status was performed by a thorough review of electronic medical records system. All patients underwent full imaging evaluation with the contrast-enhanced whole body and some regional MRI at the time of initial diagnosis. RESULTS: The median age at diagnosis was 10.77 years (range, 0.37 to 18.83 y). Based on the risk stratification system of AML, 36, 45, and 40 patients are classified as low-risk, intermediate-risk, and high-risk groups, respectively. MRI at the time of the initial diagnosis of AML revealed 35 of 121 patients (28.9%) with EMI. The most common site of EMI was a skull, followed by the lower extremity bone and meninges of the brain. The median age at diagnosis was significantly younger in patients with EMI (7.87 vs. 11.08 y, P=0.0212). Low incidence of FLT3/ITD mutation, low incidence of AML-ETO gene rearrangement, and the larger extent and more severe degree of bone marrow involvement was related with EMI. However, there was no significant prognostic difference in event-free survival and overall survival regardless of the presence of EMI in the overall patient population and each risk group. The location of EMI occurrence was also not related to prognosis. CONCLUSIONS: Even if EMI symptoms are not evident, surveillance MRI scans at the initial diagnosis of pediatric AML patients are very helpful in detecting a significant number of EMIs. Younger age, some molecular features, and more severe bone marrow involvement of AML patients were related with EMI. However, there was no significant prognostic difference between patients with or without EMI regardless of risk group. Further prospective investigation is necessary to validate the prognostic effect of EMI in a larger group of patients with different risk groups.


Assuntos
Leucemia Mieloide Aguda , Imageamento por Ressonância Magnética , Criança , Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Prognóstico , Estudos Retrospectivos , Fatores de Risco
3.
Br J Haematol ; 195(5): 748-756, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34590720

RESUMO

Juvenile myelomonocytic leukaemia (JMML), a rare clonal haematopoietic disorder of childhood, is characterised as a myelodysplastic/myeloproliferative neoplasm. Despite ground-breaking genetic discoveries, JMML remains difficult to diagnose given its diverse clinical features and disease course. A total of 24 patients with JMML were diagnosed and treated at a single institution, and their genetic profiles and association with clinical and laboratory characteristics were analysed. In all, 22 of the patients received allogeneic haematopoietic stem cell transplantation after myeloablative conditioning, mostly from a haploidentical family donor. RAS pathway mutations were identified in 88% of patients: PTPN11 [nine (38%)], NRAS [nine (38%)], KRAS [two (8%)], NF1 [five (21%)] and CBL [one (4%)]. Secondary mutations were found in 25% of patients: SETBP1, JAK3, ASXL1, GATA2, KIT, KDM6A, and BCOR. Six patients showed cytogenetic abnormalities, including three with monosomy 7. The estimated 5-year event-free survival (EFS) and overall survival (± standard error) of the entire cohort were 58·9 (10·9)% and 73·5 (10·8)% respectively. NRAS (+) patients had a higher 5-year EFS than NRAS (-) patients [72·9 (16·5)% vs. 52·5 (13·1)%, P = 0·127]. NRAS (+) patients had a better 5-year EFS than PTPN11 (+) patients [41·7 (17·3)%, P = 0·071]. Our study revealed the genetic characteristics of Korean JMML patients with RAS pathway and secondary mutations.


Assuntos
Leucemia Mielomonocítica Juvenil/genética , Mutação , Criança , Pré-Escolar , Feminino , GTP Fosfo-Hidrolases/genética , Humanos , Lactente , Leucemia Mielomonocítica Juvenil/epidemiologia , Leucemia Mielomonocítica Juvenil/terapia , Masculino , Proteínas de Membrana/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , República da Coreia/epidemiologia
4.
J Pediatr Hematol Oncol ; 43(1): e90-e94, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32427706

RESUMO

Obstructive lung disease (OLD) that develops after hematopoietic stem cell transplantation (HSCT) has a significant impact on morbidity and mortality. We investigated the role of pulmonary function tests (PFTs) in the prediction of prognosis of OLD in children who have undergone HSCT. We retrospectively reviewed 538 patients who underwent allogenic HSCT in the Department of Pediatrics, Seoul St. Mary's Hospital, South Korea, from April 2009 to July 2017. OLD was identified on PFTs or chest computed tomography scans obtained from 3 months after HSCT onwards. OLD developed after HSCT in 46 patients (28 male individuals, median age: 11.2 y). The group that developed OLD with an unfavorable prognosis (n=23) had a lower forced vital capacity (FVC) (% of predicted, 78.53±24.00 vs. 97.71±16.96, P=0.01), forced expiratory volume in 1 second (FEV1) (% of predicted, 52.54±31.77 vs. 84.44±18.59, P=0.00), FEV1/FVC (%, 59.28±18.68 vs. 79.94±9.77, P=0.00), and forced expiratory flow at 25% to 75% of forced vital capacity (FEF25-75) (% of predicted, 30.95±39.92 vs. 57.82±25.71, P=0.00) at diagnosis than the group that developed OLD with a favorable prognosis (n=23). The group that developed OLD with an unfavorable prognosis had significant reductions in FVC, FEV1, FEV1/FVC, and FEF25-75 at 2 years after diagnosis. Children who develop OLD with an unfavorable prognosis after HSCT already have poor lung function at the time of diagnosis. Additional treatment should be considered in patients who develop OLD after HSCT according to their PFTs at diagnosis.


Assuntos
Neoplasias Hematológicas/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Pneumopatias Obstrutivas/mortalidade , Pulmão/fisiopatologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Volume Expiratório Forçado , Neoplasias Hematológicas/patologia , Humanos , Pneumopatias Obstrutivas/diagnóstico , Pneumopatias Obstrutivas/etiologia , Masculino , Prognóstico , Testes de Função Respiratória , Estudos Retrospectivos , Taxa de Sobrevida , Capacidade Vital
6.
J Pediatr Hematol Oncol ; 42(4): 266-270, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31599854

RESUMO

OBJECTIVE: This study aimed to determine prognostic factors associated with mortality in pediatric oncology patients admitted to the intensive care unit (ICU) with pulmonary complications. MATERIALS AND METHODS: This retrospective cohort study included patients 21 years of age with underlying oncologic diseases admitted to the ICU of a Korean Tertiary Referral Hospital with pulmonary complications from April 2009 to March 2017. Patients admitted for perioperative management or nonpulmonary complications were excluded. Demographic, laboratory, and clinical parameters (eg, Glasgow Coma Scale [GCS], pediatric Sequential Organ Failure Assessment [pSOFA], and Pediatric Logistic Organ Dysfunction [PELOD] scores) were reviewed. RESULTS: Overall, 110 patients (62 male, 56.3%) with a median age of 13 years (interquartile range: 8 to 16 y) were studied. The median ICU stay was 8 days (interquartile range: 4.25 to 16 d). Forty-five (40.9%) patients required mechanical ventilation. The overall mortality rate was 59.1% (65/110 patients). A multivariate logistic regression identified a low GCS score, peripheral oxygen saturation/fraction of inspired oxygen ratio, and hematocrit and increased total bilirubin as significantly associated with increased mortality. The pSOFA and PELOD scores on days 1 and 3 postadmission predicted in-ICU mortality, with corresponding areas under the curve of 0.80/0.76 and 0.87/0.83, respectively. CONCLUSION: Several clinical scores and factors may predict mortality in pediatric oncology patients with pulmonary complications.


Assuntos
Mortalidade Hospitalar , Unidades de Terapia Intensiva , Tempo de Internação , Pneumopatias , Neoplasias , Adolescente , Criança , Intervalo Livre de Doença , Feminino , Humanos , Pneumopatias/etiologia , Pneumopatias/mortalidade , Pneumopatias/terapia , Masculino , Neoplasias/mortalidade , Neoplasias/terapia , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida
7.
J Pediatr Hematol Oncol ; 42(3): e132-e139, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31688618

RESUMO

BACKGROUND: Acute myeloid leukemia with the t(8;21)(q22;q22) rearrangement (RUNX1-RUNX1T1 (+) AML) is known to have a favorable prognosis. Our study aimed to determine the most important prognostic variables among an aggregate of clinical, genetic, and treatment response-based factors in pediatric RUNX1-RUNX1T1 (+) AML. MATERIALS AND METHODS: We analyzed the characteristics and outcome of 40 patients who were diagnosed with and treated for RUNX1-RUNX1T1 (+) AML from April 2008 to December 2016 at our institution. RESULTS: A<-2.2 log fusion transcript decrement after remission induction, myeloid sarcoma type extramedullary involvement (EMI) at diagnosis, higher initial white blood cell count, and presence of KIT mutation predicted lower event-free survival. Both lower fusion transcript decrement after remission induction and the presence of EMI at diagnosis proved to be significant adverse factors in the multivariate study. The 5-year event-free survival was 70.0±7.2% (28/40); 8 of the 12 relapsed patients survive disease-free, resulting in 5-year overall survival of 89.5±5.0% (36/40). CONCLUSIONS: Kinetics of response to remission induction chemotherapy, measured in terms of the PCR value for the fusion transcript, and the presence of myeloid sarcoma type EMI at diagnosis may predict the risk of relapse in pediatric RUNX1-RUNX1T1 (+) AML.


Assuntos
Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/patologia , Neoplasia Residual/genética , Neoplasia Residual/patologia , Adolescente , Criança , Pré-Escolar , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Feminino , Humanos , Quimioterapia de Indução/métodos , Lactente , Leucemia Mieloide Aguda/tratamento farmacológico , Masculino , Neoplasia Residual/mortalidade , Proteínas de Fusão Oncogênica/genética , Prognóstico , Intervalo Livre de Progressão , Proteína 1 Parceira de Translocação de RUNX1/genética , Indução de Remissão/métodos
8.
J Korean Med Sci ; 35(33): e279, 2020 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-32830468

RESUMO

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.


Assuntos
Anemia Hemolítica Congênita/epidemiologia , Adolescente , Anemia Hemolítica Congênita/diagnóstico , Anemia Hemolítica Congênita não Esferocítica/diagnóstico , Anemia Hemolítica Congênita não Esferocítica/epidemiologia , Criança , Pré-Escolar , Feminino , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Hemoglobinas/genética , Hospitais , Humanos , Lactente , Recém-Nascido , Masculino , Polimorfismo Genético , Piruvato Quinase/deficiência , Erros Inatos do Metabolismo dos Piruvatos/diagnóstico , Erros Inatos do Metabolismo dos Piruvatos/epidemiologia , República da Coreia/epidemiologia , Estudos Retrospectivos , Inquéritos e Questionários
9.
J Korean Med Sci ; 35(46): e393, 2020 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-33258329

RESUMO

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, high-risk, 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.


Assuntos
Antineoplásicos/uso terapêutico , Doença de Hodgkin/tratamento farmacológico , Adolescente , Antineoplásicos/efeitos adversos , Bleomicina/efeitos adversos , Bleomicina/uso terapêutico , Criança , Pré-Escolar , Doxorrubicina/efeitos adversos , Doxorrubicina/uso terapêutico , Doenças do Sistema Endócrino/etiologia , Feminino , Transplante de Células-Tronco Hematopoéticas , Doença de Hodgkin/mortalidade , Doença de Hodgkin/patologia , Humanos , Lactente , Recém-Nascido , Masculino , República da Coreia , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento , Vimblastina/efeitos adversos , Vimblastina/uso terapêutico , Adulto Jovem
10.
Pediatr Hematol Oncol ; 37(4): 275-287, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32131664

RESUMO

The European Society for Blood and Marrow Transplantation (EBMT) has recently announced new diagnostic criteria for pediatric hepatic veno-occlusive disease (HVOD) after hematopoietic stem cell transplantation (HSCT). We retrospectively inspected 97 ultrasound exams of 60 pediatric HSCT patients, and compared its diagnostic value using the Baltimore, Seattle and pediatric EBMT criteria. Nine of the ten patients who were diagnosed as HVOD only in the EBMT criteria had severe or very severe HVOD. In the Seattle and EBMT criteria, portal vein velocity, peak systolic velocity and resistance index of hepatic artery, gallbladder wall thickening and ascites were statistically significant. No ultrasound variable showed significant association in the Baltimore criteria. All patients with portal vein velocity below 10 cm/s were in higher EBMT grade. A scoring system was developed, to evaluate the overall relationship of the ultrasound findings with the diagnosis of HVOD, showing fair (0.768 and 0.733) AUC in the ROC curve of EBMT and Seattle criteria.


Assuntos
Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Hepatopatia Veno-Oclusiva , Adolescente , Criança , Pré-Escolar , Europa (Continente) , Feminino , Hepatopatia Veno-Oclusiva/diagnóstico , Hepatopatia Veno-Oclusiva/diagnóstico por imagem , Hepatopatia Veno-Oclusiva/etiologia , Hepatopatia Veno-Oclusiva/fisiopatologia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Sociedades Médicas , Ultrassonografia
12.
Pediatr Blood Cancer ; 63(11): 1966-73, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27463364

RESUMO

BACKGROUND: Recent studies indicate 70-80% event-free survival (EFS) for pediatric acute lymphoblastic leukemia (ALL). In this study, we report the outcome of 295 children and adolescents treated at our institution, with stratification into four risk groups, and omission of cranial irradiation in all patients. PROCEDURE: Patients were diagnosed from January 2005 to December 2011 and classified and treated as low, standard, high, and very high risk groups. A delayed intensification phase was given twice for high and very high risk groups. None of the patients received cranial irradiation for central nervous system (CNS) prophylaxis. RESULTS: The 10-year EFS and overall survival (OS) were 78.5 ± 2.5% and 81.9 ± 2.7%, respectively. EFS according to risk group was as follows: low risk 91.2 ± 3.7%, standard risk 98.1 ± 1.9%, high risk 81.5 ± 4.3%, very high risk 59.4 ± 5.3%. In a multivariate analysis, high hyperdiploidy and infant ALL were significant predictors of EFS. Cumulative incidence of any relapse, isolated CNS relapse, and any CNS relapse were 17.1 ± 2.3%, 1.5 ± 0.7%, and 2.3 ± 0.9%, respectively. Other events included infection-related deaths during remission induction chemotherapy (3), primary refractory disease (2), and treatment-related deaths in first complete remission (8). CONCLUSIONS: In this single-institution study of Korean pediatric ALL patients, risk group based intensification with omission of cranial irradiation resulted in EFS comparable to previous studies, excellent survival of low- and standard-risk patients, and a low rate of CNS relapse.


Assuntos
Neoplasias Encefálicas/prevenção & controle , Irradiação Craniana , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Adolescente , Neoplasias Encefálicas/secundário , Criança , Pré-Escolar , Dexametasona/uso terapêutico , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade
13.
J Infect Chemother ; 22(12): 822-825, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27496601

RESUMO

Abdominal pain may precede the characteristic varicella skin lesions in immunocompromised patients with visceral varicella. The absence of skin lesions may delay timely diagnosis and treatment of varicella for those patients. Furthermore, abdominal imaging findings to provide information to diagnose visceral varicella have rarely been reported. Varicella was diagnosed in a 5-year-old boy with acute lymphoblastic leukemia complaining of fever and abdominal pain followed by papulovesicular skin lesions. Later, the patient was found to have rapidly progressive acute hepatitis, and abdominal computed tomography showed multiple hypodense hepatic nodules. The patient was treated with intravenous acyclovir, intravenous immunoglobulin, and empirical antibiotic and antifungal therapy. However, his fever and abdominal pain persisted, and a laparoscopic liver biopsy was performed to differentiate other causes of the persisting symptoms. Eventually, the patient was diagnosed with visceral varicella based on histopathologic findings. In conclusion, visceral varicella should be considered in immunocompromised patients with abdominal pain and multiple hypodense hepatic nodules on abdominal imaging studies. However, bacteria, fungi, and tuberculosis can produce similar imaging findings; therefore, a biopsy may be necessary in patients not responding to antiviral therapy.


Assuntos
Dor Abdominal/diagnóstico , Varicela/diagnóstico , Hepatite/diagnóstico , Fígado/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Dor Abdominal/etiologia , Dor Abdominal/patologia , Doença Aguda , Varicela/etiologia , Varicela/patologia , Pré-Escolar , Progressão da Doença , Hepatite/etiologia , Hepatite/patologia , Humanos , Masculino
14.
Ann Pediatr Endocrinol Metab ; 28(2): 116-123, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35798300

RESUMO

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.

15.
Ann Pediatr Endocrinol Metab ; 28(1): 34-41, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35798303

RESUMO

PURPOSE: This study aimed to investigate the clinical factors associated with bone mineral density (BMD) among children and adolescents with osteoporosis secondary to treatment for underlying clinical conditions. METHODS: We retrospectively reviewed the medical records of patients aged 10-18 years and evaluated them for lumbar spine BMD (LSBMD) after treatment for underlying diseases, including hemato-oncologic, rheumatologic system, and inflammator y bowel diseases. LSBMD measured by dual-energy x-ray absorptiometry (DXA) performed from March 2019 to March 2021 was evaluated. We analyzed 117 patients who underwent initial DXA after treatment for underlying diseases. RESULTS: Subjects in this study had multiple underlying diseases: hemato-oncologic (78.6%), rheumatologic (11.1%), and inflammatory bowel diseases (10.3%). There was no significant association between the z-score and bone metabolic markers (P>0.05). However, higher cumulative glucocorticoid (GC) dose significantly reduced LSBMD z-score (P=0.029). Moreover, the association between cumulative dose of GC and initial z-score of LSBMD was significant in logarithmic regression analysis (P=0.003, R2=0.149). GC accumulation was a significant risk factor for vertebral fracture when the initial BMD was evaluated after treatment (P=0.043). Bone metabolic markers did not significantly influence the risk of vertebral fracture. CONCLUSION: Initial bone mass density of the lumbar spine evaluated after long-term GC use for underlying diseases is a predictor of further vertebral fractures.

16.
Cancers (Basel) ; 15(15)2023 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-37568679

RESUMO

We conducted a retrospective study on 51 pediatric patients with newly diagnosed chronic myeloid leukemia chronic phase or accelerated phase. The patients were classified into the IMA group (N = 33), treated with imatinib, and the DSA group (N = 18), treated with dasatinib, as front-line tyrosine kinase inhibitors (TKIs). At 12 months, the rates of complete cytogenetic response were similar between the IMA group (92.3%) and DSA group (100%) (p = 0.305). However, the rate of early molecular response was higher in the DSA group than in the IMA group (100.0% vs. 80.0%, p = 0.043). By 12 and 24 months, the DSA group showed faster and higher cumulative rates of both major (DSA group: 72.2% and 100%, respectively; IMA group: 41.2% and 68.7%, respectively; p = 0.002) and deep molecular responses (DSA group: 26.0% and 43.6%, respectively; IMA group: 13.8% and 17.5%, respectively; p = 0.004). Both TKIs were well tolerated. Although the height standard deviation scores decreased in both groups, the height decline was greater in the DSA group between one and two years from the start of TKI therapy. In this study, dasatinib achieved faster and higher molecular responses with an acceptable safety profile. Further follow-up is necessary to assess the long-term outcomes of TKI treatment in children.

17.
Front Oncol ; 13: 1122714, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37035148

RESUMO

Most children with chronic myeloid leukemia (CML) present with the chronic phase (CML-CP) at diagnosis, exhibiting an excellent treatment response to contemporary tyrosine kinase inhibitors (TKIs). However, despite TKI therapy, patients with CML-CP may progress to blastic crisis (BC). CML-BC rarely occurs in extramedullary sites, and isolated central nervous system (CNS) BC is an extremely rare condition. It may with present various neurologic symptoms that necessitates differential diagnosis from other causes such as TKI toxicity. Information on the diagnosis and treatment of this condition is lacking, as are well-established diagnostic criteria. Here, we report a case of isolated CNS lymphoblastic crisis in a child with CML-CP who was treated with dasatinib. The patient, an 8-year-old girl, was admitted owing to visual disturbance and severe headache. We highlight the importance of a CSF study for the differential diagnosis of CNS BC in patients with CML-CP who present with common neurologic symptoms during TKI therapy.

18.
Cancer Res Treat ; 55(1): 279-290, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35952715

RESUMO

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.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Nefroma Mesoblástico , Tumor Rabdoide , Sarcoma , Tumor de Wilms , Criança , Humanos , Masculino , Carcinoma de Células Renais/epidemiologia , Estudos Retrospectivos , Recidiva Local de Neoplasia , Neoplasias Renais/terapia , Neoplasias Renais/tratamento farmacológico , Nefroma Mesoblástico/congênito , Nefroma Mesoblástico/metabolismo , Nefroma Mesoblástico/patologia , Tumor Rabdoide/patologia , República da Coreia/epidemiologia
19.
Cancer Res Treat ; 54(4): 1230-1239, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34922415

RESUMO

PURPOSE: Approximately 30%-40% of pediatric acute myeloid leukemia (AML) patients relapse. In this study, we analyzed the outcome and prognostic factors of relapsed AML patients who had previously received first-line therapy at our institution. MATERIALS AND METHODS: The study group consisted of 50 patients who had been diagnosed with AML from April 2009 to December 2018, and then showed first relapse. Thirty-two of the patients (64%) had previously received allogeneic hematopoietic stem cell transplantation (HSCT) in first complete remission (CR). RESULTS: Forty-five of the patients (90%) received intensive chemotherapy upon diagnosis of relapse, and 76% (34/45) of these patients achieved a second CR. Estimated 5-year overall survival for these 45 patients was 44.9%±7.6%. Time from diagnosis to relapse, extramedullary involvement (EMI) at diagnosis, core binding factor AML, and complex karyotype were significant prognostic factors; in multivariate study, both time from diagnosis to relapse and EMI at diagnosis proved significant. There was no difference in 5-year disease-free survival between patients previously treated with chemotherapy only and those who received HSCT in first CR (52.4%±14.9% vs. 52.6%±11.5%). Of the 19 patients who achieved second CR after previous allogeneic HSCT in first CR and subsequent relapse, 11 were treated with chemotherapy only, and seven survive disease-free. CONCLUSION: Intensive therapy allowed for long-term survival in 40%-50% of patients, and 50% of patients who achieved second CR, regardless of prior treatment modalities in first CR. Intensive treatment may allow for salvage of a significant portion of patients with relapsed pediatric AML.


Assuntos
Leucemia Mieloide Aguda , Criança , Fatores de Ligação ao Core , Humanos , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/terapia , Prognóstico , Recidiva , República da Coreia/epidemiologia , Estudos Retrospectivos , Transplante Homólogo
20.
Transplant Cell Ther ; 28(2): 103.e1-103.e8, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34823062

RESUMO

The use of alternative donor peripheral blood stem cell transplantation (PBSCT) has increased in recent years. In this study, we analyzed the effect of stem cell source and HLA disparity on outcomes in pediatric patients with severe aplastic anemia (SAA). A total of 134 patients who underwent HSCT with nonmyeloablative conditioning between 2006 and 2020 were enrolled and classified into 3 groups: HLA-matched bone marrow transplantation (M-BMT; n = 24), HLA-matched PBSCT (M-PBSCT; n = 66), and HLA-mismatched PBSCT (MM-PBSCT; n = 44). Significantly higher stem cell doses were obtained for PBSCT than for BMT. A total of 13 patients experienced secondary graft failure (GF), with a cumulative incidence (CI) of 10.0%. HLA-mismatched PBSCT and a very severe degree of disease significantly decreased the incidence of secondary GF. The CI of grade II-IV acute graft-versus-host disease (GVHD) was significantly higher in PBSCT than in BMT, but the CI of grade III-IV acute GVHD and CI of chronic GVHD requiring systemic treatment did not increase in PBSCT. The estimated 5-year overall survival (OS), failure-free survival (FFS), and GVHD-free failure-free survival (GFFS) of the total cohort were 93.0%, 89.5%, and 77.5%, respectively. The most favorable FFS was observed in the MM-PBSCT group (97.6%; P = .03), whereas OS and GFFS were similar across the 3 groups. In multivariate analysis, HLA mismatch and short time from diagnosis to transplantation were associated with superior FFS. Unrelated donor PBSCT with low-intensity SAA conditioning showed favorable outcomes in terms of low rate of secondary GF, higher FFS, and manageable GVHD regardless of HLA compatibility. Our findings suggest the feasibility of PBSCT from unrelated donors, resulting in the possible expansion of the donor pool in transplantation for pediatric SAA. © 2021 American Society for Transplantation and Cellular Therapy. Published by Elsevier Inc.


Assuntos
Anemia Aplástica , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Transplante de Células-Tronco de Sangue Periférico , Anemia Aplástica/terapia , Criança , Doença Enxerto-Hospedeiro/prevenção & controle , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Transplante de Células-Tronco de Sangue Periférico/efeitos adversos , Doadores não Relacionados
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