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Pediatric Blood & Cancer

Stefano Avanzini, Maria Grazia Faticato, Alessandro Crocoli, Calogero Virgone, Camilla Viglio, Elisa Severi, Anna Maria Fagnani, Giovanni Cecchetto, Giovanna Riccipetitoni, Bruno Noccioli, Ernesto Leva, Angela Rita Sementa, Girolamo Mattioli, Alessandro Inserra
BACKGROUND: Peripheral neuroblastic tumors are the most common extracranial solid neoplasms in children. Early and adequate tissue sampling may speed up the diagnostic process and ensure a prompt start of optimal treatment whenever needed. Different biopsy techniques have been described. The purpose of this multi-center study is to evaluate the accuracy and safety of the various examined techniques and to determine whether a preferential procedure exists. METHODS: All children who underwent a biopsy, from January 2010 to December 2014, as a result of being diagnosed with a peripheral neuroblastic tumor, were retrospectively reviewed...
October 20, 2016: Pediatric Blood & Cancer
Nirali N Shah, Theresa M Watson, Bonnie Yates, David J Liewehr, Seth M Steinberg, David Jacobsohn, Terry J Fry
BACKGROUND: Diagnosis of engraftment syndrome (ES) following allogeneic hematopoietic stem cell transplantation (HSCT) can be a challenge due to the systemic presentation and alternative etiologies. With a goal of establishing biomarkers to more accurately distinguish ES, we prospectively analyzed levels of cytokines during HSCT. PROCEDURES: We performed a prospective study of children ≤21 years who underwent allogeneic HSCT. Blood samples for interleukin (IL)-6, IL-8, IL-10, IL-1b, IL-12p70, interferon-γ, tumor necrosis factor alpha (TNF-α) and procalcitonin were obtained from each subject prior to conditioning, at day 0, and then biweekly through engraftment and at days 30, 60 and 100...
October 20, 2016: Pediatric Blood & Cancer
Paola Angelini, Meredith S Irwin
No abstract text is available yet for this article.
October 20, 2016: Pediatric Blood & Cancer
Amita Trehan, Deepak Bansal, Neelam Varma, Ajay Vora
BACKGROUND: The outcome of malignancies in low- and middle-income countries (LMICs) is hampered owing to numerous factors. Current protocols are complex, demanding supportive care, often not optimally available. We de-escalated the UKALL 2003 protocol to improve the outcome of acute lymphoblastic leukemia (ALL) at our center. METHODS: In 2007-2009, children were treated as per the UKALL 2003 protocol (protocol 1). In 2010 and 2011, a modified version of the UKALL 2003 (protocol 2) was followed...
October 20, 2016: Pediatric Blood & Cancer
Jolanta Skalska-Sadowska, Małgorzata Dawidowska, Bronisława Szarzyńska-Zawadzka, Małgorzata Jarmuż-Szymczak, Joanna Czerwińska-Rybak, Ludomiła Machowska, Katarzyna Derwich
We report a pediatric case of acute T-lymphoblastic leukemia (T-ALL) with NOTCH1(wt) , FBXW7(wt) , STIL/TAL1, and PTEN (exons 2, 3, 4, 5) monoallelic deletions, biallelic CDKN2A/B deletion, and a minor t(8;14)(q24;q11)-positive subclone. Undetectable by a flow cytometric minimal residual disease assay, the t(8;14)(q24;q11) subclone expanded as detected by fluorescence in situ hybridization from 5% at diagnosis to 26% before consolidation and 100% at relapse bearing a monoallelic deletion (exons 2, 3) with a new frameshift mutation of PTEN and the same set of remaining molecular alterations...
October 19, 2016: Pediatric Blood & Cancer
Mervi Taskinen, Trausti Oskarsson, Mette Levinsen, Matteo Bottai, Marit Hellebostad, Olafur Gisli Jonsson, Päivi Lähteenmäki, Kjeld Schmiegelow, Mats Heyman
BACKGROUND: Central nervous system irradiation (CNS-RT) has played a central role in the cure of acute lymphoblastic leukemia (ALL), but due to the risk of long-term toxicity, it is now considered a less-favorable method of CNS-directed therapy. PROCEDURES: Retrospectively, we estimated the effect of CNS involvement and CNS-RT on events and overall survival (OS) in 835 children treated for high-risk ALL in the Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL-92 and ALL-2000 trials...
October 17, 2016: Pediatric Blood & Cancer
Rajen J Mody, John R Prensner, Jessica Everett, D Williams Parsons, Arul M Chinnaiyan
The maturation of genomic technologies has enabled new discoveries in disease pathogenesis as well as new approaches to patient care. In pediatric oncology, patients may now receive individualized genomic analysis to identify molecular aberrations of relevance for diagnosis and/or treatment. In this context, several recent clinical studies have begun to explore the feasibility and utility of genomics-driven precision medicine. Here, we review the major developments in this field, discuss current limitations, and explore aspects of the clinical implementation of precision medicine, which lack consensus...
October 17, 2016: Pediatric Blood & Cancer
Anita F Oliveira, Aline Tansini, Daniel O Vidal, Luiz F Lopes, Konradin Metze, Irene Lorand-Metze
BACKGROUND: Immunophenotyping of bone marrow (BM) hemopoietic precursors is useful for diagnosis of adult myelodysplastic syndrome (MDS), but data concerning pediatric patients are limited. We analyzed immunophenotypic features of BM cells at diagnosis of children who were referred to the Brazilian Pediatric Cooperative Group of Myelodysplastic Syndromes. METHODS: Diagnosis was based on clinical information, peripheral blood counts, BM cytology and cytogenetics...
October 17, 2016: Pediatric Blood & Cancer
Rachel Gallant, Phillip Bonney, Leigh Peek, Zhongxin Yu, David Crawford
No abstract text is available yet for this article.
October 17, 2016: Pediatric Blood & Cancer
Liat Lerner-Geva, Valentina Boyko, Shelley Ehrlich, Shlomo Mashiach, Ariel Hourvitz, Jigal Haas, Ehud Margalioth, David Levran, Ilan Calderon, Raoul Orvieto, Adrian Ellenbogen, Joseph Meyerovitch, Raphael Ron-El, Adel Farhi
BACKGROUND: Among children conceived by assisted reproductive technology (ART), increased risk of adverse birth outcomes has been observed, including multiple births, preterm births, and congenital malformations. Regarding cancer among ART-conceived children, findings are discrepant. METHODS: This is a historical cohort of 9,042 ART-conceived children and 211,763 spontaneously conceived (SC) children born from 1997 through 2004. The median duration of follow-up was 10...
October 17, 2016: Pediatric Blood & Cancer
Patcharee Komwilaisak, Werasak Sasanakul, Ampaiwan Chuansumrit, Somjai Kanjanapongkul, Somporn Wangruangsathit, Apasri Lusawat, Pimlak Charoenkwan, Nongnuch Sirachainan
The prevalence of protein S (PS) deficiency in Asian patients with venous thromboembolism is around 8-30%, higher than that in Caucasian populations. The present study reports the genotypes (including one novel mutation) and phenotypes of children with PS deficiency at a tertiary care institute. A total of six patients were included, three with arterial ischemic stroke, two with cerebral venous sinus thrombosis, and one with deep vein thrombosis. PS mutations were identified in four patients: p.R355C, p.G336D, p...
October 17, 2016: Pediatric Blood & Cancer
Samara L Potter, Rajkumar Venkatramani, Scott Wenderfer, Brett H Graham, Sanjeev A Vasudevan, Andrew Sher, Hao Wu, David A Wheeler, Yaping Yang, Christine M Eng, Richard A Gibbs, Angshumoy Roy, Sharon E Plon, D Williams Parsons
Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence...
October 17, 2016: Pediatric Blood & Cancer
Iris van Moort, Marieke Joosten, Moniek P M de Maat, Frank W G Leebeek, Marjon H Cnossen
Measurements of factor VIII coagulation activity (FVIII:C) may vary and result in misclassification of hemophilia A with delay in initiation of prophylactic treatment. We describe two young brothers who were diagnosed as moderate hemophilia patients and therefore not prophylactically treated with factor VIII concentrate despite frequent bleeding events. These findings emphasize the importance of (i) multiple measurements of FVIII:C by certified laboratories, (ii) adjustment of treatment when test results do not correspond to clinical symptoms, (iii) relevance of additional DNA mutation analysis in patients with hemophilia A, and (iv) treatment in centers with expertise...
October 13, 2016: Pediatric Blood & Cancer
Junne Kamihara, Clement Ma, Soad Linneth Fuentes Alabi, Claudia Garrido, A Lindsay Frazier, Carlos Rodriguez-Galindo, Manuela A Orjuela
Global variations in the incidence of pediatric cancers have been described; however, the causes of such differences are not known. We investigated the relationship between the incidence of embryonal tumors and human development index on a global scale. Increasing incidence of neuroblastoma correlates significantly with an increasing index of human development, with greater incidence among countries with high socioeconomic development, in apparent contrast to the incidence of retinoblastoma. While more data are needed to corroborate this observation, our findings suggest new avenues for etiological research and serve as a call for support of population-based cancer registries in low-middle-income countries...
October 13, 2016: Pediatric Blood & Cancer
Masanobu Takeuchi, Reo Tanoshima, Naoyuki Miyagawa, Takeo Sarashina, Hiromi Kato, Ryosuke Kajiwara, Shinya Ito, Hiroaki Goto
BACKGROUND: Thrombomodulin alfa (TM-α) is a new class of anticoagulant drug for patients with disseminated intravascular coagulation (DIC). This study aimed to determine the pharmacokinetics of TM-α and determine the optimal dose in pediatric patients with hematological malignancy and DIC. PROCEDURE: Pediatric patients with hematological malignancy and DIC were administered TM-α at a dose of 0.06 mg/kg (380 U/kg) over 30 min every 24 hr. Blood samples were taken at steady state before the start, immediately after the end, and 24 hr after the start of the sixth administration...
October 12, 2016: Pediatric Blood & Cancer
Victoria Grèze, Florence Brugnon, Fanny Chambon, Pascale Halle, Michel Canis, Clotilde Amiot, Anne-Sophie Grémeau, Bruno Pereira, Yania Yáñez Peralta, Andrei Tchirkov, Justyna Kanold
BACKGROUND: Ovarian tissue cryopreservation (OTC) is the only option available to preserve fertility in prepubertal females with neuroblastoma (NB), a childhood solid tumor that can spread to the ovaries, with a risk of reintroducing malignant cells after an ovarian graft. PROCEDURE: We set out to determine whether the analysis of TH (tyrosine hydroxylase), PHOX2B (paired-like homeobox 2b), and DCX (doublecortin) transcripts using quantitative reverse transcriptase polymerase chain reaction (RT-qPCR) could be used to detect NB contamination in ovarian tissue...
October 12, 2016: Pediatric Blood & Cancer
Anirban Das, Debajyoti Chatterjee, Bhagwant Rai Mittal, Kanchan K Mukherjee, Bishan Radotra, Deepak Bansal
No abstract text is available yet for this article.
October 12, 2016: Pediatric Blood & Cancer
Anne-Sylvia Sacri, Annelyse Bruwier, Geneviève Baujat, Sylvain Breton, Stéphane Blanche, Tracy A Briggs, Brigitte Bader-Meunier
Childhood-onset chronic and refractory cytopenias are rare and may be genetic in etiology. We report three pediatric cases of severe autoimmune thrombocytopenia or anemia associated with growth retardation and spastic diplegia with intracranial calcification. The identification of platyspondyly and metaphyseal lesions suggested a potential diagnosis of spondyloenchondrodysplasia (SPENCD), which was confirmed with the identification of biallelic ACP5 mutations. Two patients demonstrated elevated serum interferon alpha levels...
October 8, 2016: Pediatric Blood & Cancer
Jeffrey M Lipton, Blanche P Alter
No abstract text is available yet for this article.
October 8, 2016: Pediatric Blood & Cancer
Pierre O Fiset, Adam M Fontebasso, Nicolas De Jay, Tenzin Gayden, Hamid Nikbakht, Jacek Majewski, Nada Jabado, Steffen Albrecht
A cerebellar pilocytic astrocytoma (PA) in a child recurred first with a PA histology and then with features of a ganglioglioma (GG). Molecular genetic analyses of the tumors confirmed a BRAF V600E mutation in all. They also all harbored a T202M mutation in ERK1, a kinase downstream of BRAF that is implicated in glial versus neuronal differentiation. The GG sample contained several variants that were not present in the PA samples; in particular, it had a truncating mutation in MAP2. These findings not only underscore the role of BRAF as oncogenic driver but also suggest that other genes may influence tumor morphology...
October 8, 2016: Pediatric Blood & Cancer
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