Abstract:
BACKGROUND:The Wnt/β-catenin pathway plays a central role in the pathogenesis of most hepatoblastomas (HBs), that is, up to 60-80% carry activating CTNNB1 mutations. HBs can however also be the first manifestation of familial adenomatous polyposis (FAP). As this is a severe disease, it is important for the patient and related family members to firmly exclude FAP at an early stage. Current diagnosis largely depends on APC germline mutation detection on genomic DNA, which is associated with 10-20% false-negative results. Here, we establish and validate a tissue-based β-catenin gene and immunohistochemical analysis, which complements germline mutation screening to exclude the diagnosis of FAP among HB patients. METHODS:Tumor tissues of 18 HB patients, including three FAP cases were subjected to CTNNB1 exon 3 mutational analysis and immunohistochemistry comparing staining patterns for total and exon 3 specific β-catenin antibodies. RESULTS:Our novel tissue-based method reliably identified all three FAP patients. Their tumors were characterized by a wild-type exon 3 sequence and a comparable nuclear staining for both antibodies. In contrast, the non-FAP tumors carried missense CTNNB1 mutations combined with a clearly reduced staining for the exon 3 antibody, or complete loss of staining in case of lesions with exon 3 deletions. CONCLUSION:We have successfully established and validated a novel ß-catenin gene and immunohistochemical diagnostic method, which, when combined with routine germline DNA testing, allows the exclusion of the diagnosis of FAP among HB patients.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Dubbink HJ,Hollink IHIM,Avenca Valente C,Wang W,Liu P,Doukas M,van Noesel MM,Dinjens WNM,Wagner A,Smits Rdoi
10.1002/pbc.26991subject
Has Abstractpub_date
2018-06-01 00:00:00pages
e26991issue
6eissn
1545-5009issn
1545-5017journal_volume
65pub_type
杂志文章abstract::VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis. We present a patient with SCN due to a homozygous c.1403C>T (p.P468L) m...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26571
更新日期:2017-09-01 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
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28023
更新日期:2020-04-01 00:00:00
abstract::A 6-year-old male with chronic granulomatous disease, who was transplanted with bone marrow and exhibited increasing mixed chimerism, subsequently received two donor lymphocyte infusions (DLI). Two weeks after the second DLI, the patient developed acute graft-versus-host disease (GVHD) and progressive pancytopenia tha...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22280
更新日期:2010-02-01 00:00:00
abstract::Juvenile myelomonocytic leukemia (JMML) has a poor prognosis in general, with hematopoietic stem cell transplant (HSCT) remaining the standard of care for cure. The hypomethylating agent, azacitidine, has been used as a bridging therapy to transplant. However, no patients have been treated with azacitidine without an ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27905
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:Pulmonary hypertension (PHTN) is a potentially life-threatening complication, detected by echocardiographic evidence of elevated tricuspid regurgitant velocity (TRV). This condition has been described in adults with sickle cell disease (SCD) and other hemolytic disorders; however, there is little information...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20791
更新日期:2006-12-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21652
更新日期:2008-10-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22923
更新日期:2011-08-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 历史文章,杂志文章
doi:10.1002/pbc.24289
更新日期:2013-03-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24307
更新日期:2013-02-01 00:00:00
abstract::A newborn with unresectable kaposiform hemangioendothelioma associated with Kasabach Merritt phenomenon, unresponsive to vincristine and prednisone, received second-line treatment with propranolol at a dose of 2 mg/kg/day, starting at 2 months of life and continued for 13 months. There was only slight reduction in tum...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25979
更新日期:2016-07-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
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更新日期:2014-08-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20529
更新日期:2006-08-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章,随机对照试验
doi:10.1002/pbc.24486
更新日期:2013-08-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26328
更新日期:2017-05-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21790
更新日期:2009-02-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22498
更新日期:2010-07-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26111
更新日期:2016-10-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
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更新日期:2007-10-15 00:00:00
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journal_title:Pediatric blood & cancer
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更新日期:2007-09-01 00:00:00
abstract:BACKGROUND:Sickle cell anaemia (SCA) is the leading genetic disorder in Nigeria. Elevated velocities ≥170 cm/sec occur in about a third of Nigerian children with SCA. Chronic blood transfusion for stroke prevention is faced with a myriad of challenges in our practice. OBJECTIVES:To evaluate the effectiveness of hydrox...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25529
更新日期:2015-09-01 00:00:00
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journal_title:Pediatric blood & cancer
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更新日期:2006-10-15 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
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更新日期:2019-07-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26046
更新日期:2016-09-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
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更新日期:2020-12-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
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更新日期:2011-07-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2018-03-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20326
更新日期:2006-03-01 00:00:00
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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::Minimal residual disease (MRD) is an independent predictor of relapse risk in children with leukemia and is widely used for risk-adapted treatment. This article summarizes current evidence supporting the use of MRD, including clinical significance, current international clinical practice, impact statement, and recomme...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,实务指引,评审
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更新日期:2016-06-01 00:00:00