Abstract:
:Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive disorder characterized by thrombocytopenia from failure of megakaryopoiesis. CAMT is one of the bone marrow failure syndromes, and the disease progression may involve other lineages leading to pancytopenia. The genetic background of CAMT is mutations in the MPL gene encoding the thrombopoietin receptor. Here, we describe a Korean male with CAMT. Molecular genetic analyses by direct sequencing revealed that he was compound heterozygous for two nonsense mutations in MPL, Tyr63X (c.189C>A), and Arg357X (c.1069C>T), the latter being a novel mutation.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Chung HS,Koh KN,Kim HJ,Kim HJ,Lee KO,Park CJ,Chi HS,Kim SH,Seo JJ,Im HJdoi
10.1002/pbc.22842subject
Has Abstractpub_date
2011-02-01 00:00:00pages
304-6issue
2eissn
1545-5009issn
1545-5017journal_volume
56pub_type
杂志文章abstract:BACKGROUND:Nephrogenic rests (NRs) are abnormally persistent foci of embryonal cells, thought to be the precursor lesion of Wilms tumors (WTs). To date, their presence has not been systematically examined in WTs treated with preoperative chemotherapy. METHODS:A systematic analysis of the data on NRs in WTs treated wit...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.26547
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Survival rates for patients with bone tumors have increased dramatically over the past few decades. Unfortunately, many patients face functional limitations resulting from disease management, but there is little evidence regarding physical functioning in adolescents with bone tumors. This lack is largely due...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.20383
更新日期:2005-10-15 00:00:00
abstract::MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (-7/7q-) and an increased risk to develop myelodysplastic syndrome (MDS). We report a case of MIRAGE syndrome, caused by a novel SAMD9 mutation p.Leu641Pro, leading to characteristic clinical features as well as to the coexi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27589
更新日期:2019-04-01 00:00:00
abstract:BACKGROUND:Although intra-retinal tumor has long been staged presurgically according to the Reese-Ellsworth (R-E) system, retinoblastoma differs from other pediatric neoplasms in never having had a widely accepted classification system that encompasses the entire spectrum of the disease. Comparisons among studies that ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.20606
更新日期:2006-11-01 00:00:00
abstract:BACKGROUND:Irinotecan is highly active against rhabdomyosarcoma (RMS), yet its tolerability and efficacy in combination with radiation is unknown. We examined local control and toxicities in RMS patients treated with radiotherapy (RT) in combination with radiosensitizing agents irinotecan + carboplatin (I + C). PROCED...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24205
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND AND AIM:We reviewed the results and pattern of failure of the consensus HB/HCC 1996 treatment protocol for pediatric hepatoblastoma (HB) in Hong Kong. The role of SIOPEL and Children's Hepatic tumors International Collaboration (CHIC) risk stratification was evaluated. METHODS:Patients enrolled on the proto...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27482
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:For children with juvenile myelomonocytic leukemia (JMML) who undergo stem cell transplantation (SCT), the role of immunological interventions including withdrawal of immunosuppressive therapy (IST) and donor lymphocyte infusion (DLI) for treatment of disease recurrence remains uncertain. PROCEDURE:We analy...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24259
更新日期:2013-01-01 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: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:BACKGROUND:The clinical impact of influenza in children undergoing therapy for cancer is not well-described in the literature. PROCEDURE:Laboratory-documented influenza infection in pediatric oncology patients cared for in a single regional pediatric medical center between July 2000 and June 2005 was identified by rev...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.21472
更新日期:2008-05-01 00:00:00
abstract::Here, we present the case of a pediatric patient with newly diagnosed hepatocellular carcinoma causing central biliary obstruction and persistently elevated bilirubin of 3.0-4.3 mg/dl despite placement of bilateral internal-external biliary drains. The tumor was not resectable, and the patient was not a candidate for ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26330
更新日期:2017-06-01 00:00:00
abstract::Children with primary immunodeficiency or chromosomal breakage syndromes are at increased risk of developing non-Hodgkin lymphomas; they cannot tolerate standard chemotherapy regimens. We report two children with diffuse, large, B-cell lymphoma; one had ataxia telangiectasia and one had common variable immunodeficienc...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21808
更新日期:2009-05-01 00:00:00
abstract:BACKGROUND:The awareness that adolescents can have cancer is probably insufficient, not only among teenagers and their families, but also among physicians, and adolescent patients are reportedly often referred to qualified cancer institutes after a considerable delay. PROCEDURE:A prospective series of 425 patients (28...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24312
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:Subspecialty-specific normative values for clinical productivity of practicing pediatric hematologist/oncologists have not been well established. This information could be a useful adjunct in administrative decision-making in areas such as necessary levels of physician staffing and development of compensatio...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20068
更新日期:2004-08-01 00:00:00
abstract::Dry eye disease is a well-known late complication of radiation therapy and is often difficult to treat. We evaluated the usefulness of cyclosporine 0.05% ophthalmic emulsion for the treatment of radiation-associated dry eye in children. Eleven children received cyclosporine 0.05% emulsion twice daily after failure of ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24461
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:To determine the maximum-tolerated duration and dose-limiting toxicity of a daily schedule of orally administered cyclophosphamide and topotecan in pediatric patients with recurrent or refractory malignant solid tumors. METHODS:Patients received oral cyclophosphamide (50 mg/m2/dose) in the morning followed ...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.10456
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:Influenza is a health risk to children receiving chemotherapy for cancer. An absolute lymphocyte count (ALC) >1,000 cells/mm(3) has been associated with the ability to produce an immune response to influenza vaccine during chemotherapy. However, clinical efficacy of influenza vaccination during chemotherapy ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26110
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:Pediatric nonrhabdomyosarcoma soft tissue sarcomas (NRSTS) may rarely occur in visceral tissues, and little is known about their clinical history. The present study retrospectively analyzed a group of patients prospectively registered in Italian pediatric protocols conducted between 1979 and 2004. METHODS:I...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26490
更新日期:2017-09-01 00:00:00
abstract:BACKGROUND:Children with sickle cell disease (SCD) and moyamoya may benefit from indirect cerebral revascularization surgery in addition to chronic blood transfusion therapy for infarct prevention. We sought to compare overt and silent infarct recurrence rates in children with SCD undergoing revascularization. METHODS...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26022
更新日期:2016-08-01 00:00:00
abstract::The identification and referral of candidate patients for phase I trials relies heavily on pediatric oncologists who must balance their own perceptions of phase I trials with the desires of the patient and his/her family. A survey was sent to 419 physicians practicing pediatric oncology at 30 different institutions. R...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/pbc.24522
更新日期:2013-08-01 00:00:00
abstract:BACKGROUND:Patients with cancer who receive intensive chemotherapeutic regimens are subject to profound immunosuppression and are susceptible to an extended array of pathogens. PROCEDURE:The infectious causes of symptomatic gastroenteritis as evidenced by diarrhea +/- fever, vomiting, and abdominal colic in children f...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.10394
更新日期:2004-04-01 00:00:00
abstract:BACKGROUND:Dexamethasone is more efficacious than prednisone in the treatment of acute lymphoblastic leukemia (ALL), but has also been associated with greater toxicity. We compared neuropsychological outcomes for patients treated on DFCI ALL Consortium Protocol 00-01, which included a randomized comparison of the two s...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,随机对照试验
doi:10.1002/pbc.24666
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:Melanoma is a common cancer among adolescents and young adults (AYAs), yet adherence to recommended surveillance and factors related to adherence are not well understood in this population. This study assessed the prevalence and correlates of physician-conducted skin examination (PSE) and skin self-examinati...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28090
更新日期:2020-03-01 00:00:00
abstract::Acute bilineal leukemias are rare and are commonly associated with t(9;22) and MLL abnormalities. Herein, we report a pediatric case of bilineal T/myeloid acute leukemia associated with del (9q)(q13q22) and TLX3/BCL11B fusion due to the cryptic t(5;14)(q35;32). FISH studies confirmed the TLX3/BCL11B fusion in both the...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22850
更新日期:2011-03-01 00:00:00
abstract::Bridging the survival gap for children with cancer, between those (the great majority) in low and middle income countries (LMIC) and their economically advantaged counterparts, is a challenge that has been addressed by twinning institutions in high income countries with centers in LMIC. The long-established partnershi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.24802
更新日期:2014-02-01 00:00:00
abstract:BACKGROUND:Ewing sarcoma (EWS) is rarely diagnosed as a second malignancy. We sought to describe a cohort of patients with secondary EWS and investigate if patient characteristics and survival differ between patients with secondary and primary EWS. PROCEDURE:Patients with EWS or peripheral primitive neuroectodermal tu...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24251
更新日期:2013-04-01 00:00:00
abstract::High-risk (HR) acute lymphoblastic leukemia (ALL) remains one of the greatest challenges in pediatric oncology. Relapsed ALL is a leading cause of death in young people, and further improvements in outcome will required the development of therapeutic approaches directed against rational therapeutic targets, as escalat...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.22996
更新日期:2011-06-01 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:Compared to X-ray radiation therapy, proton therapy (PT) reduces the radiation dose to organs at risk, which is expected to translate into fewer second cancers and less cardiac morbidity decades after treatment. The Children's Oncology Group high-risk pediatric Hodgkin lymphoma (PHL) protocol, AHOD1331, allo...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26044
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Many pediatric oncology patients undergoing hematopoietic stem cell transplantation (HSCT) require nutritional support (NS) because of their inability to consume adequate caloric intake enough calories orally. Although NS can be provided either enteraly (EN) or parenteraly (PN), EN is the preferred method of...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25473
更新日期:2015-08-01 00:00:00