Abstract:
:We describe a child with dyserythropoietic anemia, thrombocytosis, functional platelet defect, and megakaryocyte dysplasia. We show that (i) this constellation of hematopoietic abnormalities was due to a germline mutation within the 5' untranslated region (5'UTR) of globin transcription factor 1 (GATA1); (ii) the mutation impaired a 5'UTR GATA1 splicing site, with promoted production of the shortened GATA1 isoform lacking the N-terminus; and (iii) expression of the GATA1 N-terminus is restricted to erythroblasts and megakaryocytes in normal marrow, consistent with the patient's abnormal erythropoiesis and megakaryopoiesis. Our findings provide insights into the clinically relevant in vivo function of the N-terminal domain of GATA1 in human hematopoiesis.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Zucker J,Temm C,Czader M,Nalepa Gdoi
10.1002/pbc.25871subject
Has Abstractpub_date
2016-05-01 00:00:00pages
917-21issue
5eissn
1545-5009issn
1545-5017journal_volume
63pub_type
杂志文章abstract:BACKGROUND:Asparaginase (Asp) and corticosteroid (CS) treatment in patients with acute lymphoblastic leukaemia (ALL) is associated with an increased risk of thrombotic events. OBJECTIVE:Characterization of global haemostatic phenotypes of patients with ALL during Asp therapy. PROCEDURE:Thrombin generation (TG) was mo...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26228
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:An adapted LMB 96 derived protocol for B-cell non-Hodgkin lymphoma (NHL) was implemented at the pediatric oncology unit of the Children Welfare Teaching Hospital in Baghdad (Iraq) from 2000 to present. The purpose was to evaluate the feasibility and efficacy of this intensive therapeutic regimen in a limited...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22905
更新日期:2011-04-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to assess glomerular and tubular renal function after HSCT in children in a prospective trial. METHODS:Renal function was assessed prospectively before HSCT (on day -10), on days +30, +100, and at least 6 months after transplantation in 34 patients (21 females/13 males) with a mean...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22030
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND:The role of local analgesics for lumbar punctures (LPs) in pediatric oncology patients has not been specifically studied. AIM:To compare the efficacy of eutectic mixture of local anesthetics (EMLA) cream to 1% lidocaine injection for LPs. METHOD:This was a retrospective observational study of all patients ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27957
更新日期:2019-11-01 00:00:00
abstract::Ovarian tumors have a low incidence in childhood, accounting for 1% of malignancies within the ages of 0-17 years. Small cell carcinoma of the ovary is a rare histology and historically has a poor prognosis. We report a case of an 11-year-old female diagnosed with small cell carcinoma of the ovary and hypercalcemia (S...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22184
更新日期:2009-12-15 00:00:00
abstract::Hepatic sinusoidal obstructive syndrome (HSOS) is a frequent complication in patients undergoing haematopoietic stem cell transplant (HSCT), and more rarely, in paediatric patients receiving conventional chemotherapy for solid tumours. Its diagnosis relies on a combination of clinical signs and symptoms such as hepato...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24859
更新日期:2014-05-01 00:00:00
abstract::We describe 12 pediatric patients (8-16 years) with primary refractory (N = 6) or first relapse (N = 6) Hodgkin lymphoma (HL) treated with ifosfamide, gemcitabine, and vinorelbine (IGEV). The overall response rate to IGEV was 100%, with seven (58%) complete responses (CR) and five (42%) partial responses. Successful C...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.28167
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:Extracranial malignant rhabdoid tumor (MRT) is a rare pediatric cancer with a poor prognosis. The kidney is the most common site. Isolated reports have shown improvements in patient survival, but no specific treatment regimen has shown efficacy over others. PROCEDURE:Retrospective review of patients diagnos...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.25093
更新日期:2014-08-01 00:00:00
abstract::Leydig cell tumors account for 3% of testicular tumors and have never been reported after treatment for Ewing's sarcoma. We report the unusual occurrence of a patient who developed a Leydig cell tumor of the testis 18 years after successful treatment for Ewing's sarcoma. Additional monitoring for second malignancies m...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20825
更新日期:2007-12-01 00:00:00
abstract:BACKGROUND:Bleomycin is associated with pulmonary toxic side effects including pneumonitis and pulmonary fibrosis. We evaluated the prevalence of long-term pulmonary function abnormalities in children receiving bleomycin therapy in the context of current chemotherapeutic regimens. METHODS:A retrospective review of pat...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25098
更新日期:2014-09-01 00:00:00
abstract::We present here a case of MIRAGE syndrome due to novel variant (c.2318T>C) in the sterile α motif domain-containing protein 9 (SAMD9) gene. Previous reports have described the clinical phenotype, which includes myelodysplasia, recurrent infections, restriction of growth and development, adrenal insufficiency, genitour...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.27726
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:The use of carboplatin for the treatment of pediatric low grade gliomas (PLGG) is often limited by the development of carboplatin hypersensitivity. Reported rates of carboplatin hypersensitivity reactions vary between 6% and 32% in these patients. Here we report the frequency of carboplatin hypersensitivity ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25686
更新日期:2016-01-01 00:00:00
abstract::Neuroblastoma is the most common extracranial solid tumor of childhood, and the outcomes for children with high-risk and relapsed disease remain poor. However, new international strategies for risk stratification and for treatment based on novel tumor targets and including immunotherapy are being employed in attempts ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.24116
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:Langerhans cell histiocytosis (LCH) is a rare proliferative disorder of pathological Langerhans cells, for which the aetiology and pathogenesis remain largely unknown. PROCEDURE:Information on the 101 children with LCH registered with the population-based Manchester Children's Tumour Registry (MCTR) between...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20884
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:The aim was to evaluate self-reported reproductive characteristics and markers of ovarian function in a nationwide cohort of female survivors of childhood acute lymphoblastic leukemia (ALL), because prior investigations have produced conflicting data. PROCEDURE:Self-reported reproductive characteristics wer...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28894
更新日期:2021-01-18 00:00:00
abstract::Treatment with the nucleoside analog cytarabine has been shown to mimic changes in gene expression associated with downregulation of the EWS-FLI1 oncogene in Ewing sarcoma cell lines, selectively inhibit their growth in vitro, and cause tumor regression in athymic nude mice. For this report cytarabine was studied in v...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22355
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:Children with terminal cancer and their families describe a preference for home-based end-of-life care. Inadequate support outside of the hospital is a limiting factor in home location feasibility, particularly in rural regions lacking pediatric-trained hospice providers. METHODS:The purpose of this longitu...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28921
更新日期:2021-02-01 00:00:00
abstract::The BRAF V600E missense mutation is known to be present in a subset of central nervous system tumors. We report a patient with a BRAF V600E mutated pilomyxoid astrocytoma who failed multiple conventional chemotherapy regimens. Treatment with vemurafenib, a molecularly targeted therapy against the mutant BRAF V600E kin...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25084
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND:Although "aspirin resistance" (AR-inadequate platelet inhibition as suggested by in vitro testing of aspirin-treated patients) has been widely studied in adults and linked to increased risk of adverse outcomes, its prevalence and clinical significance are largely unknown in children. PROCEDURE:To determine ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21465
更新日期:2008-07-01 00:00:00
abstract:BACKGROUND:The prognostic impact of central nervous system (CNS) involvement in children with acute myeloid leukemia (AML) has varied in past trials, and controversy exists over the degree of involvement requiring intensified CNS therapy. Two recent Children's Oncology Group protocols, AAML03P1 and AAML0531, directed a...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26612
更新日期:2017-12-01 00:00:00
abstract:BACKGROUND:Approximately one-third of patients with osteosarcoma who have a complete response to their initial treatment can be expected to relapse. It is important to define what host, tumor, or treatment characteristics determine outcome after relapse. We present findings in 59 patients treated at our institution fro...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20580
更新日期:2006-09-01 00:00:00
abstract:PURPOSE:About one-third of patients with rhabdomyosarcoma relapse despite appropriate treatment and experience a poor outcome. Little meaningful improvement in the outcome of this disease has been observed over the last 30 years. There is no clear international recommendation concerning the use of salvage chemotherapy ...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pbc.25622
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:A National Thalassemia Screening Program was adopted in Taiwan in 1993. This report examined that program's results and impact. METHODS:Patients with beta-thalassemia major born between 1994 and 2003 were recruited through the help of all thalassemia clinics in Taiwan. A structured questionnaire was designed...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21185
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:The aims of this study were to define the mRNA expression profiles of MYCN, DDX1, TrkA, and TrkC in biopsy tumor samples from 64 Brazilian patients with neuroblastomas of different risk stages and to correlate altered expression with prognostic values. PROCEDURE:Patients were retrospectively classified into...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22823
更新日期:2011-05-01 00:00:00
abstract::Male breast cancer (MBC) is unusual, especially in young adults. Most cases of MBC as a secondary malignancy relate to the previous treatment with ionizing radiation. MBC can be associated with mutations in hereditary cancer predisposition syndrome genes (i.e., BRCA2); however, no such association has been reported in...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25796
更新日期:2016-03-01 00:00:00
abstract:BACKGROUND:PG11047 is a novel conformationally restricted analog of the natural polyamine, spermine that lowers cellular endogenous polyamine levels and competitively inhibits natural polyamine functions leading to cancer cell growth inhibition. The activity of PG11047 was evaluated against the PPTP's in vitro and in v...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22797
更新日期:2011-08-01 00:00:00
abstract::Hemophilia is an excellent example in medicine where clinical translation of basic science discoveries has transformed the gloomy outlook of the disease. This review provides an overview of clinical advances in hemophilia management with a specific focus on the molecular heterogeneity of the disease and progress in ma...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.23193
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Central nervous system (CNS) malignancies are the most common solid tumors among children, and novel therapies are needed to help improve survival. Pomalidomide is an immunomodulatory agent that displays antiangiogenic and cytotoxic activity, making it an appropriate candidate to explore in pediatric CNS tum...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28756
更新日期:2021-02-01 00:00:00
abstract:BACKGROUND:The Children's Oncology Group (COG) publishes consensus guidelines with screening recommendations for early identification of treatment-related morbidities among childhood cancer survivors. We sought to estimate the yield of recommended yearly urinalysis screening for genitourinary complications as per Versi...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.25897
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:The high cost, coupled with the need for continuous infusion, renders Desferrioxamine (DFO), a non-feasible option for iron-chelation in a large majority of patients with β-thalassemia major in developing countries. Monotherapy with deferiprone (DFP) or deferasirox (DFX) may not always attain optimal control...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25533
更新日期:2015-09-01 00:00:00