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1.
J Pediatr Hematol Oncol ; 43(2): e165-e168, 2021 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-32032241

RESUMEN

Secondary expansion and/or evolution of aggressive subclones are associated with the disease progression and resistance to chemotherapy in neuroblastoma, and it is important to track the clonal changes during the treatment period. Cell-free (cf) DNA analysis, namely liquid biopsy, can detect the genomic change of tumor cells without surgical procedures. In this report, we showed that serial polymerase chain reaction-based cf DNA neuroblastoma proto-oncogene quantification is sensitive enough to evaluate the aggressive cellular characteristics of ALK/MYCN-coamplified neuroblastoma and stressed the promise of cf DNA analyses as a reliable molecular marker in advanced neuroblastoma.


Asunto(s)
Quinasa de Linfoma Anaplásico/genética , Biomarcadores de Tumor/genética , Ácidos Nucleicos Libres de Células/análisis , Variaciones en el Número de Copia de ADN , Amplificación de Genes , Proteína Proto-Oncogénica N-Myc/genética , Neuroblastoma/diagnóstico , Ácidos Nucleicos Libres de Células/genética , Humanos , Lactante , Masculino , Neuroblastoma/genética , Pronóstico , Proto-Oncogenes Mas
4.
Pediatr Blood Cancer ; 65(8): e27104, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29693779

RESUMEN

The clinical outcome of high-dose chemotherapy (HDC) with autologous stem cell transplantation was retrospectively analyzed in six patients with recurrent intracranial germinoma. Prior to HDC, all patients achieved complete remission after platinum and ifosfamide-based chemotherapy. A melphalan-based conditioning regimen was administered in either a single cycle or multiple sequential cycles. Five of the six patients are alive and free from disease, with a median survival of 65 months, among which four patients avoided re-irradiation. In a significant proportion of patients, recurrent intracranial germinoma is curable by HDC without re-irradiation, provided that the disease remains sensitive to salvage chemotherapy.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Encefálicas/terapia , Germinoma/terapia , Recurrencia Local de Neoplasia/terapia , Trasplante de Células Madre de Sangre Periférica/métodos , Adolescente , Neoplasias Encefálicas/patología , Niño , Terapia Combinada/métodos , Femenino , Germinoma/patología , Humanos , Masculino , Recurrencia Local de Neoplasia/patología , Reirradiación , Estudios Retrospectivos , Terapia Recuperativa/métodos , Trasplante Autólogo , Adulto Joven
6.
Rinsho Ketsueki ; 59(2): 167-173, 2018.
Artículo en Japonés | MEDLINE | ID: mdl-29515068

RESUMEN

We report on three cases of pediatric acute lymphoblastic leukemia presenting with bone pain and arthralgia as initial symptoms. At the first visit, their primary signs were recurrent bone pain and arthralgia, without significant peripheral blood abnormalities. It took 2-4 months to confirm the diagnosis from the onset of arthralgia due to this atypical presentation of the disease. Definitive diagnosis was obtained by bone marrow examination, and in all cases, complete remission was achieved by chemotherapy. As a feature of imaging, MRI exhibited diffuse bone marrow signal changes in T1-weighted images, and FDG-PET showed extensive abnormal bone marrow uptakes. In cases 2 and 3, it was difficult to diagnose by bone marrow aspiration from the iliac bone, but definitive diagnosis was obtained by bone marrow aspiration from the tibia, in which FDG-PET showed increased uptake. FDG-PET was therefore considered useful for the selection of bone marrow aspiration sites. In cases presenting with recurrent migratory bone pain and arthralgia, we need to consider performing bone marrow aspiration and imaging, such as MRI and FDG-PET, for early diagnosis and treatment of leukemia.


Asunto(s)
Enfermedades Óseas/etiología , Dolor/etiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Artralgia/etiología , Niño , Preescolar , Femenino , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Inducción de Remisión
7.
Rinsho Ketsueki ; 54(7): 653-7, 2013 Jul.
Artículo en Japonés | MEDLINE | ID: mdl-23912349

RESUMEN

Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) was performed as a diagnostic procedure for two pediatric patients with intra-abdominal tumors. Case 1 was an 8-year-old boy with a huge tumor in the portal-hepatic region. Case 2 was a 17-year-old girl with a history of diabetes and recurrent relapse of Burkitt lymphoma, who had a newly developing tumor in the pancreatic body. In both cases, EUS-FNA was performed as a less invasive diagnostic procedure than open biopsy or total resection of the tumor. Tumor cells were determined to be of the B cell lineage by flow cytometric and immunostaining analyses. Both cases were diagnosed as having Burkitt lymphoma based on detection of IgH/C-MYC translocation by FISH. The aspiration was successfully conducted without severe complications, and both patients were immediately given chemotherapy. EUS-FNA is a safe and minimally invasive procedure with high diagnostic value for pediatric cases with intra-abdominal tumors.


Asunto(s)
Neoplasias Abdominales/diagnóstico , Linfoma de Burkitt/diagnóstico , Biopsia por Aspiración con Aguja Fina Guiada por Ultrasonido Endoscópico/métodos , Neoplasias Pancreáticas/diagnóstico , Neoplasias Abdominales/diagnóstico por imagen , Neoplasias Abdominales/patología , Neoplasias Abdominales/terapia , Adolescente , Biopsia con Aguja Fina/métodos , Linfoma de Burkitt/diagnóstico por imagen , Linfoma de Burkitt/patología , Linfoma de Burkitt/terapia , Niño , Femenino , Humanos , Masculino , Neoplasias Pancreáticas/diagnóstico por imagen , Neoplasias Pancreáticas/patología , Neoplasias Pancreáticas/terapia , Resultado del Tratamiento
8.
Sci Rep ; 10(1): 14859, 2020 09 09.
Artículo en Inglés | MEDLINE | ID: mdl-32908229

RESUMEN

Shwachman-Diamond syndrome (SDS), an autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities, is caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene, which plays a role in ribosome biogenesis. Although the causative genes of congenital disorders frequently involve regulation of embryogenesis, the role of the SBDS gene in early hematopoiesis remains unclear, primarily due to the lack of a suitable experimental model for this syndrome. In this study, we established induced pluripotent stem cells (iPSCs) from patients with SDS (SDS-iPSCs) and analyzed their in vitro hematopoietic and endothelial differentiation potentials. SDS-iPSCs generated hematopoietic and endothelial cells less efficiently than iPSCs derived from healthy donors, principally due to the apoptotic predisposition of KDR+CD34+ common hemoangiogenic progenitors. By contrast, forced expression of SBDS gene in SDS-iPSCs or treatment with a caspase inhibitor reversed the deficiency in hematopoietic and endothelial development, and decreased apoptosis of their progenitors, mainly via p53-independent mechanisms. Patient-derived iPSCs exhibited the hematological abnormalities associated with SDS even at the earliest hematopoietic stages. These findings will enable us to dissect the pathogenesis of multiple disorders associated with ribosomal dysfunction.


Asunto(s)
Diferenciación Celular , Células Endoteliales , Hematopoyesis , Células Madre Hematopoyéticas , Células Madre Pluripotentes Inducidas , Síndrome de Shwachman-Diamond , Apoptosis/genética , Células Cultivadas , Células Endoteliales/metabolismo , Células Endoteliales/patología , Células Madre Hematopoyéticas/metabolismo , Células Madre Hematopoyéticas/patología , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Células Madre Pluripotentes Inducidas/patología , Japón , Masculino , Mutación , Proteínas/genética , Síndrome de Shwachman-Diamond/metabolismo , Síndrome de Shwachman-Diamond/patología
11.
Pediatr Neonatol ; 57(6): 522-525, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-24861536

RESUMEN

We report our experience with a preterm infant with severe hemolytic jaundice who required exchange transfusion just after birth. The patient was negative for alloimmune hemolysis as a result of maternal-fetal blood type incompatibility, and tests for inherited defects in erythrocyte metabolism, membrane function, and hemoglobin synthesis were normal. We also performed a bone marrow examination, but could not identify the cause of hemolysis. The patient had several other complications, including porencephaly, epilepsy, elevated serum levels of creatine kinase, and persistent microscopic hematuria. Later, we detected a genetic mutation in COL4A1, which was recently found to be associated with hemolytic anemia. We therefore believe that all of the patient's clinical features, including hemolytic anemia, were due to the mutation in COL4A1. Genetic testing for COL4A1 mutations is recommended in neonates who exhibit hemolytic disease of unknown etiology, especially when other complications compatible with COL4A1-related disorders are present.


Asunto(s)
Colágeno Tipo IV/genética , Ictericia/diagnóstico , Ictericia/genética , Mutación/genética , Incompatibilidad de Grupos Sanguíneos , Humanos , Recién Nacido , Ictericia/complicaciones , Masculino
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