Abstract:
:Familial hemophagocytic lymphohistiocytosis (FHLH) is an autosomal recessive disorder of cytotoxic cell function that results in abnormal proliferation of benign lymphocytes and histiocytes in response to infectious stimuli. FHLH generally occurs in very young children, and typically presents with fever, cytopenias, coagulopathy, lymphadenopathy, and hepatosplenomegaly. Central nervous system involvement occurs frequently and may precede the development of systemic symptoms by months to years. We report a case of an 18-year-old male with a 2-year history of symptoms attributed to a demyelinating disorder, who succumbed to rapidly progressive hemophagocyte lymphohistiocytosis. Post-mortem, two distinct perforin mutations were identified. We discuss the central nervous system and genetic findings in this unusual presentation of familial hemophagocytic lymphohistiocytosis.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Beaty AD,Weller C,Levy B,Vogler C,Ferguson WS,Bicknese A,Knutsen APdoi
10.1002/pbc.21438subject
Has Abstractpub_date
2008-05-01 00:00:00pages
1070-2issue
5eissn
1545-5009issn
1545-5017journal_volume
50pub_type
杂志文章abstract:BACKGROUND:Diamond Blackfan Anemia (DBA) is a rare congenital, bone marrow failure syndrome characterized by normochromic macrocytic anemia, reticulocytopenia and absence or insufficiency of erythroid precursors in normocellular bone marrow, frequently associated with somatic malformations. Here, we present our finding...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25183
更新日期:2014-12-01 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:Cancer among infants (<1 year old) has unique epidemiologic, clinical, and genetic characteristics compared with cancer in older children. Nonetheless, data on secular trends in infant cancer incidence and survival in the United States is sparse. METHODS:Population-based data from nine areas of the Surveill...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28917
更新日期:2021-01-20 00:00:00
abstract:BACKGROUND:A pediatric Phase I trial was performed to determine the maximum-tolerated dose, dose-limiting toxicities (DLTs), and pharmacokinetics (PK) of vorinostat and bortezomib, in patients with solid tumors. PROCEDURE:Oral vorinostat was administered on days 1-5 and 8-12 of a 21-day cycle (starting dose 180 mg/m(2...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24271
更新日期:2013-03-01 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:BACKGROUND:The purpose of this study was to evaluate a reduced irradiation dose strategy for newly diagnosed primary central nervous system (CNS) germinomas. METHODS:Twenty patients with histologically diagnosed localized pure germinoma (n = 19) or germinoma with a mature teratoma component (n = 1) received four cycle...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22468
更新日期:2010-07-15 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::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::Most publications report the adverse (negative) health issues in childhood cancer survivors. Presenting information to the newly diagnosed patient in a positive manner is advocated, while noting that recurrence is the most likely adverse event. Re-analysis of population-based studies on life-threatening toxicities fro...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.22975
更新日期:2011-12-15 00:00:00
abstract:BACKGROUND:Iron overload is well documented in patients with β-thalassemia major, and patients who have undergone hematopoietic stem cell transplantation (HSCT) remain at risk as a result of pre- and immediate post-HSCT transfusions. PROCEDURE:This is a prospective, randomized, 1-year clinical trial that compares the ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,随机对照试验
doi:10.1002/pbc.26213
更新日期:2017-01-01 00:00:00
abstract::The efficacy of hydroxyurea in hemoglobin SC (HbSC) patients is not well documented. We describe the long-term response to hydroxyurea in children with clinically severe HbSC. In 15 patients, hydroxyurea resulted in a significant increase in mean corpuscular volume (MCV) and fetal hemoglobin (HbF) and a significant de...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24283
更新日期:2013-02-01 00:00:00
abstract::In this retrospective study of patients with overt orbital retinoblastoma, we evaluated minimally disseminated disease (MDD) in bone marrow and cerebrospinal fluid (CSF) using CRX and/or GD2 synthase as markers. Ten patients were evaluated-five (50%) at diagnosis and five upon relapse. MDD was detected in four cases (...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27662
更新日期:2019-06-01 00:00:00
abstract::Aplastic anemia (AA) is an immune-mediated disease. Although most patients are responsive to immunosuppressive therapy (IST) with a combination of anti-thymocyte globulin (ATG) and cyclosporine (CsA), some patients relapse or are refractory to IST. Sirolimus (rapamysin) inhibits the serine-threonine kinase mammalian t...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22865
更新日期:2011-07-01 00:00:00
abstract:PURPOSE:We conducted a pediatric phase I study to estimate the maximum tolerated dose (MTD), dose-limiting toxicities (DLT), and pharmacokinetic properties of vorinostat, a histone deacetylase (HDAC) inhibitor, when given in combination with temozolomide in children with refractory or recurrent CNS malignancies. PATIE...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.24541
更新日期:2013-09-01 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::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:BACKGROUND:Treatment with radiotherapy (RT) is associated with an increased risk of second malignant neoplasms (SMNs) in childhood cancer survivors; it is unclear how treatment with intensity-modulated radiation therapy (IMRT) impacts this risk. We provide the first report of SMN risk in a cohort of childhood cancer su...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25285
更新日期:2015-02-01 00:00:00
abstract::Ameloblastic fibro-odontosarcoma (AFOS) is an extremely rare malignant odontogenic tumor. Complete surgical excision is the treatment of choice. Deaths due to disease recurrence and/or progression are documented. Here, we report the case of a 15-year-old female with multiple recurrent AFOS. She responded to chemothera...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25627
更新日期:2015-11-01 00:00:00
abstract:BACKGROUND:Children less than 5 years of age with malignant central nervous system (CNS) tumors, continue to have a high rate of morbidity and mortality following administration of conventional therapy. In an attempt to avoid the neurologic sequelae associated with craniospinal radiation, strategies such as high-dose c...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21381
更新日期:2008-05-01 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:Infection in neutropenic children is a major cause of morbidity and mortality in children treated for cancer. In developing countries, children with cancer are often malnourished at diagnosis. In Blantyre, Malawi, children with Burkitt lymphoma are treated with a local protocol with limited toxicity. The aim...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22032
更新日期:2009-07-01 00:00:00
abstract:PURPOSE:To evaluate the association of central nervous system (CNS) treatment intensity and the social functioning of children who have completed treatment for leukemia, lymphoma, and solid tumors outside the CNS. Furthermore, we expected that these associations would be moderated by child age at diagnosis and gender. ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21062
更新日期:2007-10-15 00:00:00
abstract:BACKGROUND:Hepatic sinusoidal obstruction syndrome (SOS) is a serious complication of autologous stem cell transplant (ASCT) in children with historically high mortality rates. Defibrotide has shown proven benefit in its treatment and may have a modest role in prevention. We report our experience with SOS in children u...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.28677
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:The presence of central nervous system (CNS) disease in pediatric acute myeloid leukemia (AML) is often thought to confer a worse prognosis. This study examined the outcome of children with AML who had CNS disease at diagnosis. METHODS:Patients enrolled on Children's Cancer Group protocols 2861, 2891, 2941,...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22511
更新日期:2010-09-01 00:00:00
abstract:BACKGROUND:This study investigates the effect of using patient reported outcomes (PROs) about health-related quality of life (HRQOL) in clinical practice on the type and amount of psychosocial topics discussed during a paediatric oncology consultation. PROCEDURE:Children (N = 193) with cancer participated in a sequent...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pbc.24089
更新日期:2012-07-15 00:00:00
abstract:BACKGROUND:Neuroblastoma is the most common extracranial pediatric solid cancer. Lung metastasis is rarely detected in children with newly diagnosed neuroblastoma. We aimed to describe the incidence, clinical characteristics, and outcome of patients with lung metastasis at initial diagnosis using a large international ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21684
更新日期:2008-11-01 00:00:00
abstract:BACKGROUND:Various projects dedicated specifically to adolescents and young adults (AYA) with cancer have been developed in recent years. A critical aspect of such programs is the ability to demonstrate its value, and therefore how to measure desired outcomes. METHODS:A list of metrics to consider for demonstrating th...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26172
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:To evaluate outcomes of Group D eyes of bilateral retinoblastoma patients treated with primary chemoreduction and external beam radiation as salvage. PROCEDURE:Retrospective chart review of patients diagnosed with bilateral retinoblastoma and designated Group D in at least one eye from January 1, 2000 to De...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24303
更新日期:2013-04-01 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:BACKGROUND:Patient transition readiness self-assessment tools and investigation into patient and parent perceptions of the transition process from pediatric to adult care models have informed recognition of gaps in care, particularly for those with chronic disease. Implementation of a longitudinal transition process wi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25807
更新日期:2016-03-01 00:00:00