Abstract:
BACKGROUND:Fanconi anemia (FA) predisposes to hematologic disorders and myeloid neoplasia in childhood and to solid cancers, mainly oral carcinomas, in early adulthood. Few cases of solid cancers have been reported in childhood. PROCEDURES:We conducted a national retrospective study of solid tumors occurring in patients registered with or determined to have FA during childhood in France. Phenotypic features, tumor type, cancer treatment, and outcome were analyzed. Whenever available, fresh-frozen tumors were analyzed by microarray-based comparative genomics hybridization. RESULTS:We identified eight patients with FA with solid tumor from 1986 to 2012. For two patients, the diagnosis of FA was unknown at the time of cancer diagnosis. Moreover, we identified one fetus with a brain tumor. All patients showed failure to thrive and had dysmorphic features and abnormal skin pigmentation. Seven patients had BRCA2/FANCD1 mutations; five of these featured more than one malignancy and the median age at the time of cancer diagnosis was 11 months (range 0.4-3 years). Solid tumor types included five nephroblastomas, two rhabdomyosarcomas, two neuroblastomas, and three brain tumors. Two children died from the toxic effects of chemotherapy, two patients from the cancer, and one patient from secondary leukemia. Only one BRCA2 patient was alive more than 3 years after diagnosis, after tailored chemotherapy. CONCLUSION:Solid tumors are rare in FA during childhood, except in patients with BRCA2/FANCD1 mutations. The proper genetic diagnosis is mandatory to tailor the treatment.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Malric A,Defachelles AS,Leblanc T,Lescoeur B,Lacour B,Peuchmaur M,Maurage CA,Pierron G,Guillemot D,d'Enghien CD,Soulier J,Stoppa-Lyonnet D,Bourdeaut Fdoi
10.1002/pbc.25303subject
Has Abstractpub_date
2015-03-01 00:00:00pages
463-70issue
3eissn
1545-5009issn
1545-5017journal_volume
62pub_type
临床试验,杂志文章,多中心研究abstract:BACKGROUND:The DNA methylating agent temozolomide was developed primarily for treatment of glioblastoma. However, preclinical data have suggested a broader application for treatment of childhood cancer. Temozolomide was tested against the PPTP solid tumor and ALL models. PROCEDURES:Temozolomide was tested against the ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24368
更新日期:2013-05-01 00:00:00
abstract::To assess safety and tolerability, we administered valacyclovir, an oral anti-viral medication that inhibits erythrocyte sickling in vitro, to 14 subjects with sickle-cell anemia for 1 week at a standard dose of 1,000 mg every 8 hr. No clinically significant adverse effects occurred. In 11 subjects in steady state, th...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22809
更新日期:2011-05-01 00:00:00
abstract::Antibody therapy has become standard of care for adult B cell lymphoma patients. It is a potentially less toxic and more targeted approach for lymphoma therapy and should therefore be applied to treat pediatric B cell lymphoma patients as well. In pediatric lymphoma patients, however, clinical experience with monoclon...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.25193
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Survival of osteosarcoma patients has reached a plateau with the addition of chemotherapy and in part predicted based on histologic response. Risk-adapted therapy might be an alternative approach. We aimed to identify risk groups using clinical variables available at time of diagnosis in order to better pred...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21843
更新日期:2009-03-01 00:00:00
abstract:BACKGROUND:More than 60% of children with acute myeloid leukemia (AML) become long-term survivors. Most are cured using chemotherapy without hematopoietic stem cell transplantation (HSCT). We report on pubertal development and compare self-reported parenthood among AML survivors and their siblings. PROCEDURE:We includ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24715
更新日期:2013-12-01 00:00:00
abstract::Social media are powerful means of communication that can also have an important role in the healthcare sector. They are sometimes seen with diffidence in the healthcare setting, partly because they risk blurring professional boundaries. This issue is particularly relevant to relations between caregivers and adolescen...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26958
更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:Physical fitness is an important determinant of quality of life (QOL) after hematopoietic stem cell transplantation. Cardiac function can influence exercise performance. The aim of this study was to assess these factors and their interrelationship. PROCEDURE:Children underwent cardiopulmonary exercise testi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27499
更新日期:2019-01-01 00:00:00
abstract::Infliximab-daclizumab was used to treat acute and chronic liver and gut graft-versus-host disease (GVHD) in two children after standard immunosuppressive therapy failed. Infliximab (10 mg/kg weekly, 4 doses) and daclizumab (1 mg/kg, days 1, 4, 8, 15, and 22) were given over 1 month. In case 1, grade 2 chronic GVHD of ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.20648
更新日期:2007-08-01 00:00:00
abstract:BACKGROUND:Glucocorticoids and asparaginase, used to treat acute lymphoblastic leukemia (ALL), can cause hypertriglyceridemia. We compared triglyceride levels, risk factors, and associated toxicities in two ALL trials at St. Jude Children's Research Hospital with identical glucocorticoid regimens, but different asparag...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28040
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Recent studies suggest that SLCO1B1 c.521T > C variant decreases the clearance of methotrexate (MTX) and elevates its plasma concentration, hence leucovorin doses may need to be adjusted. However, high leucovorin doses may affect the cure rate in childhood acute lymphoblastic leukemia (ALL). Hitherto neither...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25191
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Fifteen evidence-based Standards for Psychosocial Care for Children with Cancer and Their Families (Standards) were published in 2015. The Standards cover a broad range of topics and circumstances and require qualified multidisciplinary staff to be implemented. This paper presents data on the availability of...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26634
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might b...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27923
更新日期:2019-10-01 00:00:00
abstract::Embryonal rhabdomyosarcoma (ERMS) is the most common childhood sarcoma and is a component of the familial pleuropulmonary blastoma (PPB)-predisposition syndrome. Using the PPB model, we hypothesized that DICER1 mutations would be found in familial and sporadic forms of ERMS. Blood samples from four children with famil...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24020
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:Conflicting data exist regarding whether low bone mineral density (BMD) is associated with Fanconi anemia (FA). The current study identified the frequency of low BMD in FA, expecting low BMD even in childhood and before HCT. PROCEDURE:Thirty-seven FA patients (18 prior HCT, 19 no prior HCT), participating i...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22956
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Resource-rich countries tend to have a higher incidence of childhood acute lymphoblastic leukemia (ALL), whereas lower rates are seen in more deprived countries. This study describes the incidence of childhood acute leukemia in Brazil, an upper middle-income country, based on data from 16 population-based ca...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22736
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Clear cell sarcoma of the kidney (CCSK) is known for its propensity to metastasize to bone, but it also spreads to other sites including the brain. This study was undertaken to describe the treatment and outcomes of patients with recurrent CCSK involving the brain. METHODS:A retrospective records review was...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21131
更新日期:2008-02-01 00:00:00
abstract::Wiskott-Aldrich syndrome (WAS) is characterized by primary immunodeficiency, thrombocytopenia and eczema. Patients with WAS have an increased risk to develop tumors. Non-Hodgkin lymphoma (NHL) represents the most common malignancy occurring in WAS-affected patients, diffuse-large-B-cell lymphoma is the most frequently...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23393
更新日期:2012-08-01 00:00:00
abstract::Opportunities for cancer prevention in adolescents range from limitation of sun exposure to the use of human papillomavirus vaccines. Those who develop malignant disease experience longer waiting times for diagnosis and treatment than do children, especially when referred to adult treatment centers, and they are less ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.20634
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:Malignant ectomesenchymoma (MEM) is a soft tissue tumor with heterologous rhabdomyoblastic components believed to arise from pluripotent migratory neural crest cells. To date merely 50 cases have been published and the knowledge about the course of disease and optimal treatment is limited. METHODS:Six patie...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24174
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:Ensuring adequate parental consent is a key issue of ethical practice in pediatric oncology. In Germany, however, knowledge about parental comprehension and satisfaction with the informed consent procedure is limited, and representative data on parents' perspectives are still missing. Based on data collected...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24330
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Traditionally, physicians have believed that limb-salvage surgery has functional and cosmetic advantages over amputation, yet the literature is equivocal. Therefore, we sought to compare the psychosocial and functional outcomes in osteosarcoma survivors after limb-salvage surgery and amputation. We hypothesi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22419
更新日期:2010-07-01 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: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: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::In adult patients, amifostine appears to ameliorate cisplatin-related nephrotoxicity and ototoxicity. We assessed the safety and efficacy of amifostine in 11 children with newly diagnosed medulloblastoma/primitive neuroectodermal tumor treated with radiotherapy and vincristine, lomustine, and cisplatin. Amifostine was...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.20132
更新日期:2004-12-01 00:00:00
abstract::Granulocytic sarcoma (GS) is a localized tumor composed of immature myeloid cells. This extramedullary tumor can present before, concurrent with or after the diagnosis of acute myeloid leukemia. GS is extremely uncommon in acute promyelocytic leukemia (APL). As a proportion of patients never develop systemic disease, ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21190
更新日期:2008-03-01 00:00:00
abstract::Bereaved families fear their child being forgotten by those who knew their loved child, including their child's oncology team. Thoughtfully timed, family-centric condolences shared by pediatric oncology team members have the potential to extend our compassion and kindness toward a family during the darkness of grief. ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27489
更新日期:2019-02-01 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:Since 1975, childhood cancer incidence rates have gradually increased in the United States; however, few studies have conducted analyses across time to unpack this temporal rise. The aim of this study was to test the hypothesis that increasing cancer incidence rates are due to secular trends in pregnancy cha...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26888
更新日期:2018-03-01 00:00:00
abstract:BACKGROUND:The psychosocial outcomes of young adult survivors of childhood bone tumors are not well known. This study: (a) examined perceived social support (SS) and benefit-finding (BF) with respect to surgical intervention, gender, and age; (b) compared SS and psychological outcomes to normative values; and (c) exami...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24441
更新日期:2013-07-01 00:00:00