RESUMEN
BACKGROUND: Pleraxifor for peripheral blood stem cell (PBSC) mobilization in children with malignancies is often given following failure of standard mobilization (SM) rather than as a primary mobilizing agent. STUDY DESIGN AND METHODS: In this retrospective multicenter study, we report the safety of plerixafor-based PBSC mobilization in children with malignancies and compare outcomes between patients who received plerixafor upfront with SM (Group A) with those who received plerixafor following failure of SM (Group B). In the latter pleraxifor was given either following a low peripheral blood (PB) CD34 (<20 cells/cu.mm) (Group B1) or as a second collection process due to an unsuccessful yield (CD34 + < 2 × 106 /kg) (Group B2) following failed SM and first apheresis attempts. RESULTS: The study cohort (n = 47) with a median age of 8 (range 0.6-21) year, comprised 19 (40%) Group A and 28 (60%) Group B patients (B1 = 12 and B2 = 16). Pleraxifor mobilization was successful in 87.2% of patients, similar between Groups A and B (84.2% vs 89.2%) and resulted in a median 4-fold increase in PB CD34. Median number of apheresis attempts was 2 in Groups A and B1 but 4 in Group B2. In Group B2, median total CD34+ yield post-plerixafor was 9-fold higher than after SM (P = .0013). Mild to moderate transient adverse events affected 8.5% of patients. Among patients who proceeded to autologous transplant (n = 39), all but one engrafted. CONCLUSION: Plerixafor-based PBSC collection was safe and effective in our cohort and supports consideration as a primary mobilizing agent in children with malignancies.
Asunto(s)
Bencilaminas/uso terapéutico , Ciclamas/uso terapéutico , Movilización de Célula Madre Hematopoyética/métodos , Neoplasias/tratamiento farmacológico , Neoplasias/terapia , Células Madre de Sangre Periférica/efectos de los fármacos , Adolescente , Antígenos CD34/sangre , Eliminación de Componentes Sanguíneos , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Lactante , Linfoma/tratamiento farmacológico , Linfoma/terapia , Masculino , Meduloblastoma/tratamiento farmacológico , Meduloblastoma/radioterapia , Meduloblastoma/terapia , Neuroblastoma/tratamiento farmacológico , Neuroblastoma/radioterapia , Neuroblastoma/terapia , Células Madre de Sangre Periférica/metabolismo , Estudios Retrospectivos , Sarcoma/tratamiento farmacológico , Sarcoma/terapia , Adulto JovenRESUMEN
Acute pancreatitis is a rare presentation in Burkitt lymphoma (BL) and may lead to delayed medical or unnecessary surgical treatment. Three cases of BL presenting as acute pancreatitis in the authors' institutions were described. Similar cases reported in the medical literature were collected and described along with the authors' cases. There were 12 cases described in the medical literature and hence a total of 15 cases of BL presenting as acute pancreatitis. Fourteen cases were the first diagnosis, and the other presented at lymphoma relapse. Twelve cases occurred in children under 15 years. Twelve patients had extrapancreatic disease. Three children were treated with surgery before diagnosis. Two patients died. Six of the remaining had adequate follow-up and were surviving in remission 8 months to 16 years after diagnosis. Lymphoma should be included in the differential diagnosis of acute pancreatitis in children. Acute pancreatitis in combination with malignant infiltration on imaging is highly suggestive of BL, especially in the jaundiced child.
Asunto(s)
Linfoma de Burkitt/diagnóstico , Pancreatitis/diagnóstico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Linfoma de Burkitt/tratamiento farmacológico , Niño , Preescolar , Diagnóstico Diferencial , Humanos , Masculino , Pancreatitis/tratamiento farmacológico , PronósticoRESUMEN
In our institution, hepatic veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) has been treated with N-acetylcysteine (NAC) since 2008-a loading dose of 150 mg/kg, followed by 12 doses of 70 mg/kg 6 hourly. Nine children were diagnosed with hepatic VOD/SOS. Hepatic VOD/SOS occurred in seven children after stem cell transplantation and two were receiving chemotherapy for Wilms tumor. Their clinical severity was classified as moderate in two and severe in seven by the European Society for Blood and Marrow Transplantation criteria. All children recovered and were discharged from 4 to 16 days after diagnosis. No side effects were observed. Intravenous NAC is an effective treatment for hepatic VOD/SOS.
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Acetilcisteína/uso terapéutico , Depuradores de Radicales Libres/uso terapéutico , Enfermedad Veno-Oclusiva Hepática/tratamiento farmacológico , Antineoplásicos/efectos adversos , Niño , Preescolar , Femenino , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Enfermedad Veno-Oclusiva Hepática/etiología , Humanos , Masculino , Estudios RetrospectivosRESUMEN
An acquired, transient bleeding disorder that predominantly affects children in Southeast Asia has been reported for the last 4 decades. The condition has been named idiopathic purpura with gray platelets (IPGP) or acquired platelet dysfunction with eosinophilia. In a retrospective review from a private pediatric clinic over an 8-year period, 10 consecutive children were diagnosed as IPGP with a mean age of 8.4 (3.7 to 16.2) years. Eosinophilia (>0.5×10/L) was absent in 1, while gray platelets were consistently found in all cases with a mean proportion of 64.5% (40% to 80%). Platelet aggregation tests were performed in 9 patients with abnormal responses consistent with platelet storage pool defect. All children recovered completely and spontaneously from 1 to 4 months after diagnosis without specific therapy. In an otherwise well child who presents abruptly with easy bruising and a platelet count >100×10/L, IPGP can be readily recognized as an acquired form of gray platelet syndrome. Eosinophilia is common but not mandatory for diagnosis.
Asunto(s)
Plaquetas/metabolismo , Síndrome de Plaquetas Grises/sangre , Agregación Plaquetaria , Púrpura/sangre , Adolescente , Plaquetas/patología , Niño , Preescolar , Eosinofilia/sangre , Eosinofilia/patología , Femenino , Síndrome de Plaquetas Grises/patología , Humanos , Masculino , Pruebas de Función Placentaria , Recuento de Plaquetas , Púrpura/patología , Remisión Espontánea , Estudios RetrospectivosRESUMEN
Macropolycytes are tetraploid neutrophils produced during accelerated myelopoiesis. They have been reported in adults with pernicious anemia, sepsis, and after cytotoxic chemotherapy. Two pediatric cases are reported, one after granulocyte colony-stimulating factor treatment and the other following Kawasaki disease, respectively.
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Enfermedades de la Médula Ósea/patología , Insuficiencia Pancreática Exocrina/patología , Lipomatosis/patología , Síndrome Mucocutáneo Linfonodular/patología , Neutrófilos/patología , Adolescente , Enfermedades de la Médula Ósea/sangre , Enfermedades de la Médula Ósea/tratamiento farmacológico , Niño , Insuficiencia Pancreática Exocrina/sangre , Insuficiencia Pancreática Exocrina/tratamiento farmacológico , Humanos , Lipomatosis/sangre , Lipomatosis/tratamiento farmacológico , Masculino , Síndrome Mucocutáneo Linfonodular/sangre , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Neutrófilos/metabolismo , Síndrome de Shwachman-DiamondAsunto(s)
Infecciones por Citomegalovirus/complicaciones , Citomegalovirus/aislamiento & purificación , Infecciones por Virus de Epstein-Barr/complicaciones , Herpesvirus Humano 4/aislamiento & purificación , Mononucleosis Infecciosa/complicaciones , Linfohistiocitosis Hemofagocítica/patología , Niño , Infecciones por Citomegalovirus/virología , Infecciones por Virus de Epstein-Barr/virología , Femenino , Humanos , Lactante , Mononucleosis Infecciosa/virología , Linfohistiocitosis Hemofagocítica/etiología , PronósticoRESUMEN
We retrospectively analysed the outcomes of 127 children with acquired severe aplastic anaemia (SAA) who had received haematopoietic stem cell transplantation (HSCT) between 2000 and 2011 in one of the 10 Asia Pacific institutions. Fifty-three were matched sibling donor (MSD) and 74 were alternative donor (AD), including 22 matched unrelated donor, 32 mismatched unrelated donor and 20 mismatched related donor. With a median follow up 45.5 months (13-139) and when compared to the MSD group, AD recipients had more grade II-IV acute graft-versus-host disease (aGVHD; 14.3% vs. 32.8%, P = 0.029), but similar grade III-IV aGVHD (10.2% vs. 12.5%, P = 0.774), graft failure (GF) (15.1% vs. 15.5%, P = 0.658) and 5-year overall survival (90.6% vs. 83.7%, P = 0.251). As a source of stem cell, peripheral blood stem cells (PBSC) resulted in less GF (18% vs. 9.1% P = 0.013), similar grade II-IV aGVHD (28.1% vs. 17.4%, P = 0.258), chronic GVHD (25.8% vs. 29.3%, P = 0.822) and similar outcomes (89.7% vs. 82.4%, P =0.665) when compared to bone marrow (BM). In univariate analysis, GF (P < 0.001) and grade II-IV aGVHD (P = 0.009) were predictors of poor survival. In multivariate analysis, only GF was associated with poor survival (P = 0.012). The outcome of AD and PBSC HSCT were comparable to that of MSD and BM HSCT in the Asia Pacific region.
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Anemia Aplásica/terapia , Trasplante de Células Madre Hematopoyéticas/métodos , Adolescente , Niño , Preescolar , Femenino , Rechazo de Injerto , Enfermedad Injerto contra Huésped/prevención & control , Histocompatibilidad , Prueba de Histocompatibilidad , Humanos , Lactante , Masculino , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Análisis de Supervivencia , Acondicionamiento Pretrasplante/métodos , Resultado del TratamientoRESUMEN
Introduction: Immune thrombocytopenia (ITP) is the most common cause of acquired bleeding in childhood, but little is known about the clinical course and outcomes in infants with ITP. Methods: This is a retrospective study of all infants (1-12 months of age) and toddlers (13-47 months of age) diagnosed with ITP from a single centre during a 13-year period. The following data were compared between the two patients groups: demographics, severity of bleeding, platelet counts, duration of illness, development of chronic ITP, treatment and association with recent vaccination. Results: Twenty-two infants and 30 toddlers were diagnosed and followed up for ITP during the study period. Infants with ITP generally had minor or mild bleeding (19, 86.4%) and seldom required treatment (7, 31.8%), and their thrombocytopenia resolved at a mean of 1.90 months after diagnosis. Besides age, the sex ratio, severity of bleeding, platelet counts and proportion that required treatment were comparable between infants and toddlers. Fewer infants developed chronic ITP (1/22 vs. 9/30, P = 0.032), but more infants had a history of vaccination in the preceding 6 weeks prior to diagnosis of ITP (13/22 vs. 1/30, P < 0.001). Conclusion: ITP in infants is almost always a self-limiting and transient illness, and the majority of cases do not require treatment.
RESUMEN
Introduction: In Europe and North America, the majority of children with high-risk neuroblastoma survive the disease. Elsewhere, the treatment outcomes are poor. Methods: A retrospective review of children treated for high-risk neuroblastoma in a single institution in Singapore from 2007 to 2019 was carried out. Treatment consisted of intensive chemotherapy, surgery aimed at gross total resection of residual disease after chemotherapy, consolidation with high-dose therapy followed by autologous stem cell rescue, and radiotherapy to the primary and metastatic sites followed by maintenance treatment with either cis-retinoic acid or anti-disialoganglioside monoclonal antibody therapy. Survival data were examined on certain clinical and laboratory factors. Results: There were 57 children (32 male) treated for high-risk neuroblastoma. Their mean age was 3.9 (range 0.7-14.9) years. The median follow-up time was 5.5 (range 1.8-13.0) years for the surviving patients. There were 31 survivors, with 27 patients surviving in first remission, and the five-year overall survival and event-free survival rates were 52.5% and 47.4%, respectively. On log-rank testing, only the group of 17 patients who were exclusively treated at our centre had a survival advantage. Their five-year overall survival rate compared to patients whose initial chemotherapy was done elsewhere was 81.6% versus 41.1% (P = 0.011), and that of event-free survival was 69.7% versus 36.1% (P = 0.032). Published treatment results were obtained from four countries in Southeast Asia with five-year overall survival rates from 13.5% to 28.2%. Conclusion: Intensified medical and surgical treatment for high-risk neuroblastoma proved to be effective, with superior survival rates compared to previous data from Southeast Asia.
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Trasplante de Células Madre Hematopoyéticas , Neuroblastoma , Niño , Humanos , Masculino , Lactante , Preescolar , Adolescente , Supervivencia sin Enfermedad , Neuroblastoma/tratamiento farmacológico , Neuroblastoma/patología , Trasplante de Células Madre Hematopoyéticas/métodos , Resultado del Tratamiento , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Asia Sudoriental/epidemiología , Terapia CombinadaRESUMEN
BACKGROUND: In 2000, the Hong Kong Pediatric Hematology Oncology Study Group started a new relapsed acute lymphoblastic leukemia (ALL) treatment protocol based on modified ALL-REZ BFM 96 protocol aiming at improving the treatment outcome in Chinese children. PROCEDURE: All patients in Hong Kong with first relapse of childhood ALL were included. Patients were stratified into four risk groups (S1, S2, S3, and S4) and the treatment consisted of intensive chemotherapy followed by allogeneic hematopoietic stem cell transplantation, if indicated. RESULTS: Fifty-six patients were recruited and median age at diagnosis of ALL was 4.6 (range, 0.3-17) years. The median time from initial diagnosis to relapse was 2.5 (range, 0.3-9.1) years and follow-up time was 2.7 (range, 0-9.9) years. Forty-nine patients (87.5%) achieved second complete remission (CR2). CR2 rates for S1, S2, S3, and S4 groups were 100%, 93%, 90%, and 67%, respectively. Five-year overall survival (OS) was 50.5 ± 6.9% and event-free survival (EFS) was 41.5 ± 7.1%. There was no significant difference in survival among S1, S2, and S3 groups but S4 patients performed significantly worse with 5-year OS and EFS of 8% and 0%, respectively. CONCLUSION: Children with relapsed ALL of S1-S3 risk groups could be successfully treated with intensified treatment protocol. The S4 high risk group needs more innovative approach to improve treatment outcome.
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Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Niño , Preescolar , Terapia Combinada , Supervivencia sin Enfermedad , Femenino , Trasplante de Células Madre Hematopoyéticas , Hong Kong , Humanos , Lactante , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidad , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Pronóstico , Recurrencia , Inducción de Remisión , Factores de Riesgo , Resultado del TratamientoRESUMEN
To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott-Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.
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Agammaglobulinemia , Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X , Agammaglobulinemia/diagnóstico , Agammaglobulinemia/genética , Niño , Pruebas Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Secuenciación del Exoma , Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X/genéticaRESUMEN
We report a case of 46,XY pure gonadal dysgenesis (Swyer syndrome) in a phenotypically normal 12-year-old girl with a history of vaginal bleeding and early breast development, with ovarian choriocarcinoma as the first manifestation. The clues leading to the diagnosis included the failure to establish any relationship between normal menstrual cycles postoperatively and a small remaining contralateral ovary. The correct diagnosis is important for cancer prophylaxis and hormonal replacement therapy. Prepubertal and peripubertal girls presenting with gonadal germ cell tumors should be carefully evaluated for the possibility of underlying gonadal dysgenesis. A history of vaginal bleeding or early signs of puberty does not exclude the diagnosis.
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Coriocarcinoma no Gestacional/complicaciones , Disgenesia Gonadal 46 XY/diagnóstico , Neoplasias Ováricas/complicaciones , Niño , Coriocarcinoma no Gestacional/diagnóstico , Coriocarcinoma no Gestacional/genética , Femenino , Disgenesia Gonadal 46 XY/complicaciones , Disgenesia Gonadal 46 XY/genética , Humanos , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Fenotipo , Pubertad Precoz/complicacionesAsunto(s)
Neoplasias Óseas/diagnóstico , Isquion/anomalías , Osteocondrosis/diagnóstico , Tomografía de Emisión de Positrones/métodos , Sínfisis Pubiana/anomalías , Niño , Diagnóstico Diferencial , Femenino , Fluorodesoxiglucosa F18 , Humanos , Isquion/patología , Pronóstico , Sínfisis Pubiana/patología , Radiofármacos , Tomografía Computarizada por Rayos X/métodosAsunto(s)
Anticoagulantes/administración & dosificación , Cateterismo Venoso Central/efectos adversos , Cateterismo Venoso Central/instrumentación , Catéteres de Permanencia/efectos adversos , Heparina/administración & dosificación , Neoplasias/tratamiento farmacológico , Complicaciones Posoperatorias , Femenino , Humanos , MasculinoRESUMEN
A 10-year-old Chinese boy who had a history of congenital thrombocytopathy presented with severe iron deficiency anemia secondary to chronic gastric inflammation and duodenal ulcerations. Subtle oculocutaneous albinism led to the finding of diminished dense bodies in the platelets under electron microscopy, hence the diagnosis of Hermansky-Pudlak syndrome (HPS). Biopsies from the stomach and duodenum revealed a lymphocytic infiltration in the submucosa, but H pylori infection was absent. The gastroduodenitis responded to the treatment with omeprazole while iron deficiency anemia was corrected by oral iron therapy. HPS is a rare cause of congenital bleeding disorder with multisystemic manifestations. Upper gastrointestinal involvement is rare and should be distinguished from a mere manifestation of the bleeding diathesis.