Abstract:
BACKGROUND:Pediatric papillary thyroid carcinoma (PTC) is clinically and biologically distinct from adult PTC. We sequenced a cohort of clinically annotated pediatric PTC cases enriched for high-risk tumors to identify genetic alterations of relevance for diagnosis and therapy. METHODS:Tumor DNA and RNA were extracted from FFPE tissue and subjected to next-generation sequencing (NGS) library preparation using a custom 124-gene hybridization capture panel and the 75-gene Archer Oncology Research Panel, respectively. NGS libraries were sequenced on an Illumina MiSeq. RESULTS:Thirty-six pediatric PTC cases were analyzed. Metastases were frequently observed to cervical lymph nodes (29/36, 81%), with pulmonary metastases less commonly found (10/36, 28%). Relapsed or refractory disease occurred in 18 patients (18/36, 50%). DNA sequencing revealed targetable mutations in 8 of 31 tumors tested (26%), most commonly BRAF p.V600E (n = 6). RNA sequencing identified targetable fusions in 13 of 25 tumors tested (52%): RET (n = 8), NTRK3 (n = 4), and BRAF. Mutually exclusive targetable alterations were discovered in 15 of the 20 tumors (75%) with both DNA and RNA analyzed. Fusion-positive PTC was associated with multifocal disease, higher tumor staging, and higher American Thyroid Association risk levels. Both BRAF V600E mutations and gene fusions were correlated with the presence of cervical metastases. CONCLUSIONS:Targetable alterations were identified in 75% of pediatric PTC cases with both DNA and RNA evaluated. Inclusion of RNA sequencing for detection of fusion genes is critical for evaluation of these tumors. Patients with fusion-positive tumors were more likely to have features of high-risk disease.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Potter SL,Reuther J,Chandramohan R,Gandhi I,Hollingsworth F,Sayeed H,Voicu H,Kakkar N,Baksi KS,Sarabia SF,Lopez ME,Chelius DC,Athanassaki ID,Mahajan P,Venkatramani R,Quintanilla NM,Lopez-Terrada DH,Roy A,Parsons DWdoi
10.1002/pbc.28741subject
Has Abstractpub_date
2021-01-01 00:00:00pages
e28741issue
1eissn
1545-5009issn
1545-5017journal_volume
68pub_type
杂志文章abstract:BACKGROUND:Outcomes for childhood brain tumors are now associated with a five-year survival rate of 75%. Endocrine effects of brain tumors are common, occurring in 43% of patients by 10 years from tumor diagnosis. Optimal timing of screening for endocrinopathies remains undefined. We aim to identify incidence and timin...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27631
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Most relapses from Wilms' tumor occur within 2 years from diagnosis. This study aims to describe the incidence and outcome of patients who experienced a late recurrence (LR) more than 5 years after diagnosis across several clinical trials, and to develop evidence-based recommendations for follow-up surveilla...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pbc.24604
更新日期:2013-10-01 00:00:00
abstract::Children with cancer and their families experience shifts in spiritual wellness from diagnosis through treatment and survivorship or bereavement. An interdisciplinary team conducted a systematic review of quantitative and qualitative research on spiritual assessments, interventions, and outcomes in childhood cancer fo...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27764
更新日期:2019-09-01 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::Two thirds of children with cancer never reach a specialist centre for treatment in South Africa. The majority of those who present have advanced disease. A campaign was undertaken to educate the public and the primary health workers on the Saint Siluan early warning signs of cancer in children. There was a statistica...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22853
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Solid pseudopapillary pancreatic tumors (SPPT) are an extremely rare entity in pediatric patients. Even if the role of radical surgical resection as primary treatment is well established, data about follow-up after pancreatic resection in children are scant. METHODS:A retrospective review of data from the I...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27519
更新日期:2019-03-01 00:00:00
abstract::We describe five cases of children who completed chemotherapy for infantile acute lymphoblastic leukemia (ALL) and soon after were diagnosed with severe T-cell, non-HIV immunodeficiency, with varying B-cell and NK-cell depletion. There was near absence of CD3(+) , CD4(+) , and CD8(+) cells. All patients developed mult...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26108
更新日期:2016-11-01 00:00:00
abstract::Thymic epithelial neoplasms consist of thymomas, thymic carcinoids, and thymic carcinomas. Carcinomas are malignant tumors of the thymus characterized by obvious cytological anaplasia. They constitute only 4%-14% of thymic epithelial neoplams. Thymic carcinoma rarely occurs in children. Research in the English literat...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.20468
更新日期:2006-08-01 00:00:00
abstract:BACKGROUND:Severe pandemic influenza A (H1N1) infection can lead to acute respiratory failure (ARF) with associated high mortality. Children with malignancy may be at higher risk of H1N1-associated ARF because of underlying primary disease or immunosuppression associated with chemotherapy. PROCEDURE:We describe the cl...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22973
更新日期:2011-10-01 00:00:00
abstract::In Wilms tumor (WT), mutations in the gene encoding p53, TP53, are correlated with anaplasia; however TP53 variants have not been studied in favorable histology (FH) WTs. A single nucleotide polymorphism of TP53 encoding either arginine or proline at codon 72 is suggested to alter in vitro p53 behavior. Therefore, we ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23315
更新日期:2012-08-01 00:00:00
abstract:BACKGROUND:Prophylactic use of cranial radiation therapy (CRT) in young children with acute lymphoblastic leukemia (ALL) is associated with significant long-term morbidity. Therefore, current treatment protocols for pediatric B-precursor ALL have abandoned prophylactic CRT in favor of intrathecal chemotherapy, combined...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.10392
更新日期:2004-01-01 00:00:00
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: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:BACKGROUND:Few studies have addressed the efficacy of palliative radiotherapy (RT) for pediatric osteosarcoma (OS), a disease generally considered to be radioresistant. We describe symptom relief, local control, and toxicity associated with palliative RT among children with OS. PROCEDURE:Patients diagnosed with OS at ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27967
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:The histological response to neoadjuvant chemotherapy (NAC) in pediatric patients with Ewing sarcoma family of tumors (ESFT) can predict the disease-free survival. Therefore, a noninvasive method for response assessment is needed. Using the currently established imaging modalities, mass reduction does not al...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28605
更新日期:2020-11-01 00:00:00
abstract::Survivorship care is a major area of focus in the holistic management of childhood cancer with current knowledge and information almost exclusively from high-income countries. In this review, we summarize the state of scientific knowledge, service delivery, advocacy initiatives, and research efforts in this field in I...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.28556
更新日期:2020-09-01 00:00:00
abstract::Peripheral neuropathy is a well-known side effect of vincristine, a micro-tubule inhibitor commonly used to treat malignancies. Severe neurologic adverse events can occur in patients with Charcot-Marie-Tooth disease (CMT) treated with vincristine. Voriconazole is an antifungal agent used increasingly in children with ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21786
更新日期:2009-02-01 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
abstract:BACKGROUND:Children with hepatoblastoma (HB) are at risk of sarcopenia due to immobility, chemotherapy, and malnutrition. We hypothesized that children with HB have a low preoperative total psoas muscle area (tPMA), reflecting sarcopenia, which negatively impacts outcome. PROCEDURE:Retrospective study of children (1-1...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28862
更新日期:2021-01-12 00:00:00
abstract::Natural killer (NK) cell lymphoma of lung is very rare. We report a case of NK cell lymphoma presented in a 17-year-old male with bilateral pleural effusions and hemophagocytic lymphohistocytosis. Morphologic and immunohistochemical tests revealed an association of NK cell lymphoma with Epstein-Barr virus. A literatur...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21943
更新日期:2009-05-01 00:00:00
abstract::Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder of early childhood characterized by mutations of the RAS-RAF-MAP kinase signaling pathway. We report the case of a child with a diagnosis of JMML carrying two mutations of NRAS gene (c.37G>C and c.38G>A) independently occurri...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23401
更新日期:2012-09-01 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:To evaluate efficacy, pharmacokinetics (PK) and pharmacodynamics of single-agent everolimus in pediatric patients with radiographically progressive low-grade glioma (LGG). METHODS:Everolimus was administered at 5 mg/m2 once daily as a tablet or liquid for a planned 48-week duration or until unacceptable tox...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28787
更新日期:2021-02-01 00:00:00
abstract:OBJECTIVE:To examine the level of children's understanding of informed consent in clinical trials and factors that may influence these processes. DESIGN:Twenty nine children who were included in clinical trials for treatment of cancer or HIV, were offered the possibility to complete a semidirective interview, with par...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.21359
更新日期:2008-05-01 00:00:00
abstract::Squamous cell carcinoma of the anal canal in children is rare. To date, the etiology and outcome of this condition have been not fully understood. Here, we report an 11-year-old child with anal canal cancer who had concomitant disorders of sex development. Radiotherapy followed by salvage surgery achieved disease-free...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25988
更新日期:2016-07-01 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
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::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::A 4-year-old girl with Noonan syndrome (NS) and constitutive PTPN11 mutation presented with stage 4 neuroblastoma and was treated by intensive chemotherapy. During the treatment, cytogenetic analysis revealed the development of a hyperdiploid clone with duplication of the germline PTPN11 mutation in a morphologically ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20527
更新日期:2007-01-01 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