Abstract:
:Germline DICER1 pathogenic variants predispose to numerous benign and malignant tumors. In this report, we describe DICER1 gene analysis in an adolescent diagnosed with multinodular goiter, ovarian Sertoli-Leydig cell tumor, and lung cyst. DICER1 mutational screening at the DNA level failed to detect any pathogenic variant. Subsequent messenger RNA (mRNA) analysis revealed a 132 nucleotide intronic sequence exonization. This truncating event was caused by a deep intronic mutation generating a de novo acceptor splice site. This study demonstrates that some undetected DICER1 mutations should be investigated at the mRNA level.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Verrier F,Dubois d'Enghien C,Gauthier-Villars M,Bonadona V,Faure-Conter C,Dijoud F,Stoppa-Lyonnet D,Houdayer C,Golmard Ldoi
10.1002/pbc.27005subject
Has Abstractpub_date
2018-06-01 00:00:00pages
e27005issue
6eissn
1545-5009issn
1545-5017journal_volume
65pub_type
杂志文章abstract::We report the case of a drug interaction between methotrexate (MTX) and chloral hydrate (CH) observed in a child treated for acute leukemia. Significantly slower MTX clearance and increased MTX exposure occurred on the first three courses of a high-dose chemotherapy when co-administered with CH despite normal renal fu...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24393
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Neuroblastoma is characterized by heterogeneity of histology, biology, and clinical behavior. Most epidemiology studies are based on Western and Japanese populations; there are very few studies on neuroblastoma from Southeast Asia. PROCEDURE:Cases of Thai children with neuroblastoma were retrospectively rev...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23325
更新日期:2012-05-01 00:00:00
abstract::The provision of tele-practice symptom management is often without the provision of evidence-based guidelines. Under the auspices of the Pediatric Oncology Group of Ontario, a nursing task force was established to appraise the evidence and develop guidelines. Promising new efforts to enhance symptom management through...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,实务指引,评审
doi:10.1002/pbc.22993
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:Radiation therapy (RT)-induced effects in children treated for low grade glioma (LGG) can result in worsening of neurologic symptoms and clinical and radiographic deterioration. Treatment for radiation-induced tumor enlargement is based on symptom control and usually involves steroids. PROCEDURE:We conducte...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25277
更新日期:2015-02-01 00:00:00
abstract::Hemophagocytic lymphohistioytosis (HLH) is a severe, life-threatening hyperinflammatory disorder that requires prompt diagnosis and treatment. Approximately, 25-50% of patients with HLH fail to achieve remission with established regimens that include dexamethasone and etoposide, or methylprednisolone and antithymocyte...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.26308
更新日期:2017-04-01 00:00:00
abstract:BACKGROUND:Malignant peripheral nerve sheath tumor (MPNST) is an aggressive form of soft-tissue sarcoma (STS) in children. Despite intensive therapy, relatively few children with metastatic and unresectable disease survive beyond three years. RAS pathway activation is common in MPNST, suggesting MEK pathway inhibition ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28639
更新日期:2020-12-01 00:00:00
abstract::The commonly accepted definition of Fanconi anemia (FA) relying on DNA repair deficiency is submitted to a critical review starting from the early reports pointing to mitomycin C bioactivation and to the toxicity mechanisms of diepoxybutane and a group of nitrogen mustards causing DNA crosslinks in FA cells. A critica...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.25452
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Hematopoietic stem cell transplant (HSCT) can cure or alleviate a wide range of nonmalignant childhood conditions. However, few studies have examined longitudinal national trends of frequency or short-term complications of HSCT before 2006 when an HSCT became a reportable procedure by US law. By using a US n...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27626
更新日期:2019-06-01 00:00:00
abstract::Six patients with high-risk neuroblastoma underwent the second stem cell collection round with G-CSF (5 μg/kg/day) + plerixafor (0.24 mg/kg/day) because the amount of CD34(+) cells collected during the first collection round with G-CSF alone was insufficient. The number of CD34(+) cells collected in the second collect...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24506
更新日期:2013-08-01 00:00:00
abstract:BACKGROUND:Choroid plexus tumors (CPT) are rare, and predominate in early childhood. An association with the Li-Fraumeni syndrome (LFS) has been reported, but the biological and clinical implications of this association remain poorly defined. We have investigated the clinical features and overall survival of all CPT pa...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23349
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND:In the pediatric population, pathologic bleeding is often challenging to identify. The pediatric bleeding questionnaire (PBQ) was developed as a screening tool for von Willebrand disease (VWD) but was designed to be self-completed by children above 12 years of age. The study objective was to determine whethe...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27709
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:The improved survival rates for childhood acute lymphoblastic leukemia (ALL) may be jeopardized by the development of a second cancer, which has been associated with thiopurine therapy. PROCEDURE:We retrospectively analyzed three sequential Nordic Society of Paediatric Haematology and Oncology's protocols c...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26518
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND:Stroke is a severe complication of sickle cell anemia (SCA). The role of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the development of stroke in children with SCA is controversial. PROCEDURE:The aim of this study was to investigate the association of clinical ischemic stroke, high-risk transcran...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25924
更新日期:2016-06-01 00:00:00
abstract:BACKGROUND:We sought to determine the risk of bacteremia in a cohort of outpatient febrile nonneutropenic pediatric oncology patients and to assess clinical characteristics that may influence decisions regarding empiric antibiotic therapy. PROCEDURE:A single institution retrospective cohort study was performed of outp...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22264
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Prior reviews of phase I pediatric oncology trials involving primarily cytotoxic agents have reported objective response rates (ORRs) and toxic death rates of 7.9-9.6% and 0.5%, respectively. These data may not reflect safety and efficacy in phase I trials of molecularly targeted (targeted) drugs. METHODS:A...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,meta分析
doi:10.1002/pbc.26258
更新日期:2017-03-01 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::Immune-mediated hemolytic anemia is a well-recognized complication of hematopoietic stem cell transplantation. We report on a 6-year-old boy with X-linked adrenoleukodystrophy who developed severe delayed alloimmune hemolytic anemia associated with immune-mediated neutropenia and thrombocytopenia following major ABO i...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21187
更新日期:2008-04-01 00:00:00
abstract:BACKGROUND:Adolescents with acute lymphoblastic leukaemia (ALL) have languished in the shadow of success of the outcome of therapy in childhood ALL. Their treatment has always been incorporated into either paediatric or adult clinical trials depending on the mode of referral and hence there is a need to address an age ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20749
更新日期:2007-03-01 00:00:00
abstract::Treatment recommendations for endemic Burkitt lymphoma (BL) in settings with only minimum requirements for curative treatment (PODC setting 1) are described. The reported cure rate for endemic BL is usually <50%. Facilities within setting 1 differ. Three treatment schedules are proposed based on: (1) when accurate sta...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,实务指引
doi:10.1002/pbc.24407
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Adolescents with cancer report a strong desire to be actively involved in personal healthcare decision making. The purpose of this study was to examine adolescent cancer patients' involvement in conversations about relapsed and refractory disease, to characterize the content of patient-clinician communicatio...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26918
更新日期:2018-04-01 00:00:00
abstract:OBJECTIVE:To develop an objective tool for assessing disease activity in patients with Langerhans cell histiocytosis (LCH). METHOD:Scoring system was developed and applied to a database containing information on 612 patients. RESULTS:At diagnosis, the score distribution was highly asymmetrical: the score was between ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20160
更新日期:2004-12-01 00:00:00
abstract:BACKGROUND:Carboplatin is the most effective drug in retinoblastoma but systemic clearance is variable in young patients. While most regimens use a flat dose, individualized targeting may provide a more adjusted systemic exposure. PATIENTS AND METHODS:We compared carboplatin doses between two groups of children with r...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22467
更新日期:2010-07-15 00:00:00
abstract:BACKGROUND:Children with acute lymphoblastic leukemia (ALL) who fail to achieve complete remission (CR) after induction therapy (induction failure: IF) have a poor prognosis; however, there have been few prospective studies in patients with IF. PATIENTS AND METHODS:Between April 1997 and March 2005, 27 of 1,237 leukem...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22217
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:The objective of this retrospective study was to assess protection against vaccine preventable diseases (VPDs) in children treated for acute lymphoblastic leukemia (ALL). PROCEDURE:Clinical characteristics and vaccination records were collected. Antibodies against VPDs were measured after completion of chem...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26187
更新日期:2017-02-01 00:00:00
abstract:OBJECTIVE:The objective of this single-center observational study was to determine the clinical and hematologic responses to intravenous ferric carboxymaltose (FCM) in a cohort of pediatric patients with poor response to oral iron therapy. The occurrence of adverse events was systematically recorded for up to 96 hours ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28614
更新日期:2020-10-01 00:00:00
abstract::An 8-year old child had a pelvic MYCN-nonamplified neuroblastoma (NB) with retroperitoneal nodal extension. Multi-modality therapy achieved complete remission (CR). Small recurrences confined to left supraclavicular nodes were treated with surgery alone at 4.9, 6.5, 7.5, 9.5, and 12.9 years from diagnosis. Monitoring ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21658
更新日期:2008-10-01 00:00:00
abstract::Adolescents and young adults (AYA) with acute lymphoblastic leukaemia (ALL) constitute a distinct population from children and older adults. Based on patterns of referral, they may be treated by either paediatric or adult oncologists. As a group, AYA with ALL have a worse survival and event-free survival (EFS) compare...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20776
更新日期:2006-11-01 00:00:00
abstract:BACKGROUND:M6620 is a novel inhibitor of the DNA damage repair enzyme ATR, and has potentiated the activity of cisplatin and irinotecan in non-small cell lung cancer and colon cancer xenografts, respectively. PROCEDURES:M6620 was tested in vitro at concentrations ranging from 1.0 nM to 10.0 μM and at 75 nM in combinat...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26825
更新日期:2018-02-01 00:00:00
abstract:BACKGROUND:Total body irradiation (TBI) is an important component of hematopoietic stem cell transplant (SCT) for pediatric malignancies. With increasing survival rates, late effects of SCT become more important. Younger children may be at particular risk of late effects of radiation and SCT. METHODS:We retrospectivel...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24252
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:Despite the increasing cure rates for children with acute lymphoblastic leukemia (ALL), patients who relapse continue to have poor prognosis. The Children's Oncology Group (COG) conducted a limited institution Phase II trial of Campath-1H, a monoclonal antibody that targets CD52 on leukemic cells, in childre...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.22209
更新日期:2009-12-01 00:00:00