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https://www.readbyqxmd.com/read/28072621/risk-stratification-of-pediatric-patients-with-neuroblastoma-using-volumetric-parameters-of-18f-fdg-and-18f-dopa-pet-ct
#1
Chia-Ju Liu, Meng-Yao Lu, Yen-Lin Liu, Chi-Lun Ko, Kuan-Yin Ko, Kai-Yuan Tzen, Hsiu-Hao Chang, Yung-Li Yang, Shiann-Tarng Jou, Wen-Ming Hsu, Ruoh-Fang Yen
PURPOSE: This study determined the prognostic value of volumetric parameters derived from pretreatment F-FDG and F-DOPA PET/CT of neuroblastoma and their correlation with clinical and histopathologic features. PATIENTS AND METHODS: A total of 25 children with neuroblastoma underwent pretreatment F-FDG and F-DOPA PET/CT within 4 weeks. The SUVmax of primary tumors on F-FDG and F-DOPA PET were recorded as SUVFDG and SUVDOPA, respectively. For volumetric parameters of primary tumors, 40% of SUVmax was used to generate volume of interest...
January 9, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28056863/growth-progression-and-chromosome-instability-of-neuroblastoma-a-new-scenario-of-tumorigenesis
#2
Gian Paolo Tonini
BACKGROUND: Neuroblastoma is a pediatric cancer with a low survival rate of patients with metastatic stage 4 disease. Tumor aggressiveness and progression have been associated with structural copy number variations (CNVs) that are observed in malignant cells. In contrast, localized Neuroblastomas, which are associated with a low number of structural CNVs but frequent numerical CNVs, are less aggressive, and patients have good outcomes. Finally, whole-genome and whole-exome sequencing of Neuroblastoma tissues have shown few damaging mutations in these tumors...
January 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28032389/bithalamic-gliomas-may-be-molecularly-distinct-from-their-unilateral-high-grade-counterparts
#3
Alberto Broniscer, Scott N Hwang, Omar Chamdine, Tong Lin, Stanley Pounds, Arzu Onar-Thomas, Lei Chi, Sheila Shurtleff, Sariah Allen, Amar Gajjar, Paul Northcott, Brent A Orr
Bithalamic gliomas are rare cancers diagnosed based on poorly defined radiologic criteria. Infiltrative astrocytomas account for most cases. While some previous studies reported dismal outcomes for patients with bithalamic gliomas irrespective of therapy and histologic grade, others described better prognoses even without anticancer therapy. Little is known about their molecular characteristics. We reviewed clinical, radiologic, and histologic features of patients with bithalamic gliomas treated at our institution over 15 years...
December 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28028439/n-myc-overexpression-increases-cisplatin-resistance-in-neuroblastoma-via-deregulation-of-mitochondrial-dynamics
#4
Gabriella Casinelli, Jeff LaRosa, Manika Sharma, Edward Cherok, Swati Banerjee, Maria Branca, Lia Edmunds, Yudong Wang, Sunder Sims-Lucas, Luke Churley, Samantha Kelly, Ming Sun, Donna Stolz, J Anthony Graves
N-Myc is a global transcription factor that regulates the expression of genes involved in a number of essential cellular processes including: ribosome biogenesis, cell cycle and apoptosis. Upon deregulation, N-Myc can drive pathologic expression of many of these genes, which ultimately defines its oncogenic potential. Overexpression of N-Myc has been demonstrated to contribute to tumorigenesis, most notably for the pediatric tumor, neuroblastoma. Herein, we provide evidence that deregulated N-Myc alters the expression of proteins involved in mitochondrial dynamics...
2016: Cell Death Discovery
https://www.readbyqxmd.com/read/27992527/first-report-of-group-ctx-m-9-extended-spectrum-beta-lactamases-in-escherichia-coli-isolates-from-pediatric-patients-in-mexico
#5
Jocelin Merida-Vieyra, Agustin De Colsa, Yair Calderon Castañeda, Patricia Arzate Barbosa, Alejandra Aquino Andrade
The aim of this study was to identify the presence of group CTX-M-9 extended spectrum beta-lactamases (ESBL) in clinical Escherichia coli isolates from pediatric patients. A total of 404 non-repeated positive ESBL E. coli isolates were collected from documented clinical infections in pediatric patients over a 2-year period. The identification and susceptibility profiles were determined using an automated system. Isolates that suggested ESBL production based on their resistance profiles to third and fourth generation cephalosporin and monobactam were selected...
2016: PloS One
https://www.readbyqxmd.com/read/27989330/pain-amplification-syndrome-a-biopsychosocial-approach
#6
REVIEW
Lisa B Namerow, Emily C Kutner, Emily C Wakefield, Barbara R Rzepski, Robert A Sahl
Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, which is intensified by significant biological, psychological, and social contributors. Appropriate assessment and multimodal intervention of PAS are crucial to treatment success, including neurology and behavioral health collaborative treatment plans to restore patient function and reduce pain perception...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27895713/coexistence-of-iamp21-and-etv6-runx1-fusion-in-an-adolescent-with-b-cell-acute-lymphoblastic-leukemia-literature-review-of-six-additional-cases
#7
Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P Patel, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases associated with a poor prognosis. iAMP21 accounts for 2% of pediatric B-ALL and occurs predominantly in older children or adolescents. ETV6-RUNX1 fusion, resulting from t(12;21)(p13;q22), is associated with an excellent outcome in younger children with B-ALL. Coexistence of iAMP21 with ETV6-RUNX1 fusion is extremely rare with limited clinical information available...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27889662/pediatric-pineal-germinomas-epigenetic-and-genomic-approach
#8
Monserrat Pérez-Ramírez, Alejo Justino Hernández-Jiménez, Armando Guerrero-Guerrero, Alicia Georgina Siordia-Reyes, Marta Elena Hernández-Caballero, Antonio García-Méndez, Fernando Chico-Ponce de León, Fabio Abdel Salamanca-Gómez, Normand García-Hernández
OBJECTIVE: We identify and correlate chromosomal alterations, methylation patterns and gene expression in pediatric pineal germinomas. METHODS: CGH microarray, methylation and gene expression were performed through the Agilent platform. The results were analyzed with MatLab software, MapViewer, DAVID, GeneCards and Hippie. RESULTS: Amplifications were found in 1q24.2, 1q31.3, 2p11.2, 3p22.2, 7p13, 7p15.2, 8p22, 12p13.2, 14q24.3 y 22q12; and deletions were found in 1q21...
January 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27821228/-abnormality-of-top2a-expression-and-its-gene-copy-number-variations-in-neuroblastic-tumors
#9
J M Chen, C J Zhou, X L Ma, D D Guan, L Y Yang, P Yue, L P Gong
Objective: To detect TOP2A protein expression and gene copy number alterations, and to analyze related clinical and pathological implications in pediatric neuroblastic tumors (NT). Methods: Immunohistochemistry was used to detect TOP2A protein expression. Fluorescence in situ hybridization (FISH) was used to detect numerical aberrations of TOP2A. Results: TOP2A protein was expressed in 59.1%(52/88) of cases, which was associated with differentiation (P=0.006), Ki-67 index (P<0.01) and MKI (P=0.001). Twenty-eight cases (35...
November 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27781423/malignant-glioma-with-primitive-neuroectodermal-tumor-like-component-mg-pnet-novel-microarray-findings-in-a-pediatric-patient
#10
Jinglan Liu, Matthew P Keisling, Ayman Samkari, Gregory Halligan, Judy M Pascasio, Christos D Katsetos
Central nervous system (CNS) tumors exhibiting dual features of malignant glioma (MG) and primitive neuroectodermal tumor (PNET) are rare and diagnostically challenging. Previous studies have shown that MG-PNET carry MYCN or MYC gene amplifications within the PNET component concomitant with glioma-associated alterations, most commonly 10q loss, in both components [9]. Here we confirm and extend the profile of molecular genetic findings in a MG-PNET involving the left frontal lobe of a 12-year-old male. Histologically, the PNET-like component showed morphological features akin to anaplastic medulloblastoma highlighted by widespread immunoreactivity for βIII-tubulin (TUBB3) and nonphosphorylated neurofilament protein, and to a lesser degree, Neu-N, synaptophysin, and CD99, whereas the gliomatous component was demarcated by glial fibrillary acidic protein (GFAP) labeling...
November 2016: Clinical Neuropathology
https://www.readbyqxmd.com/read/27775567/a-proteogenomic-approach-to-understanding-myc-function-in-metastatic-medulloblastoma-tumors
#11
REVIEW
Jerome A Staal, Yanxin Pei, Brian R Rood
Brain tumors are the leading cause of cancer-related deaths in children, and medulloblastoma is the most prevalent malignant childhood/pediatric brain tumor. Providing effective treatment for these cancers, with minimal damage to the still-developing brain, remains one of the greatest challenges faced by clinicians. Understanding the diverse events driving tumor formation, maintenance, progression, and recurrence is necessary for identifying novel targeted therapeutics and improving survival of patients with this disease...
October 19, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27769870/braf-exon-15-mutations-in-pediatric-renal-stromal-tumors-prevalence-in-metanephric-stromal-tumors
#12
Lily Marsden, Lawrence J Jennings, Samantha Gadd, Min Yu, Elizabeth J Perlman, Mariana M Cajaiba
Metanephric stromal tumors are rare renal stromal tumors that predominantly affect children. They belong to the metanephric family of tumors along with metanephric adenofibroma and metanephric adenoma. The previous documentation of BRAF exon 15 mutations in 88% of metanephric adenomas and in isolated cases of metanephric adenofibroma prompted us to investigate the prevalence of these mutations in metanephric stromal tumors and in other pediatric renal stromal tumors. In this study, 17 metanephric stromal tumors, 22 congenital mesoblastic nephromas and 6 ossifying renal tumors of infancy were selected for BRAF exon 15 testing...
October 18, 2016: Human Pathology
https://www.readbyqxmd.com/read/27756164/biallelic-loss-of-cdkn2a-is-associated-with-poor-response-to-treatment-in-pediatric-acute-lymphoblastic-leukemia
#13
Marcin Braun, Agata Pastorczak, Wojciech Fendler, Joanna Madzio, Bartlomiej Tomasik, Joanna Taha, Marta Bielska, Lukasz Sedek, Tomasz Szczepanski, Michal Matysiak, Katarzyna Derwich, Monika Lejman, Jerzy Kowalczyk, Bernarda Kazanowska, Wanda Badowska, Jan Styczynski, Nina Irga-Jaworska, Joanna Trelinska, Beata Zalewska-Szewczyk, Filip Pierlejewski, Iwona Wlodarska, Wojciech Młynarski
The inactivation of tumor suppressor genes located within 9p21 locus (CDKN2A, CDKN2B) occurs in up to 30% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), but its independent prognostic significance remains controversial. In order to investigate the prognostic impact of deletions and promoter methylation within 9p21, 641 children with newly diagnosed BCP-ALL using methylation specific multiplex ligation-dependent probe amplification (MS-MLPA) were investigated. A total of 169 (26.4%) microdeletions in 9p21 were detected, of which 71 were homozygous...
October 18, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27742033/detection-of-haemophilus-influenzae-type-b-streptococcus-agalactiae-streptococcus-pneumoniae-and-neisseria-meningitidis-in%C3%A2-csf%C3%A2-specimens-of-children-suspicious-of%C3%A2-meningitis-in-ahvaz-iran
#14
Mansour Amin, Mozhgan Ghaderpanah, Tahereh Navidifar
Meningitis is a life-threatening infection associated with a high mortality and morbidity worldwide. Neisseria meningitidis, Haemophilus influenzae, and Streptococcus pneumoniae are the most prevalent infectious agents that cause bacterial meningitis (BM). The objective of this study was to determine the frequencies of these three bacteria using bacterial cultures and polymerase chain reaction (PCR). In our cross-sectional study, cerebrospinal fluid (CSF) specimens were obtained from 196 patients who were suspected of having BM and referred to the pediatric ward of Abuzar Hospital (Ahvaz, Iran)...
October 2016: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/27728805/n-myc-induces-an-ezh2-mediated-transcriptional-program-driving-neuroendocrine-prostate-cancer
#15
Etienne Dardenne, Himisha Beltran, Matteo Benelli, Kaitlyn Gayvert, Adeline Berger, Loredana Puca, Joanna Cyrta, Andrea Sboner, Zohal Noorzad, Theresa MacDonald, Cynthia Cheung, Ka Shing Yuen, Dong Gao, Yu Chen, Martin Eilers, Juan-Miguel Mosquera, Brian D Robinson, Olivier Elemento, Mark A Rubin, Francesca Demichelis, David S Rickman
The transition from castration-resistant prostate adenocarcinoma (CRPC) to neuroendocrine prostate cancer (NEPC) has emerged as an important mechanism of treatment resistance. NEPC is associated with overexpression and gene amplification of MYCN (encoding N-Myc). N-Myc is an established oncogene in several rare pediatric tumors, but its role in prostate cancer progression is not well established. Integrating a genetically engineered mouse model and human prostate cancer transcriptome data, we show that N-Myc overexpression leads to the development of poorly differentiated, invasive prostate cancer that is molecularly similar to human NEPC...
October 10, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27718353/a-response-letter-to-the-mccreery-et-al-2016-article-stability-of-audiometric-thresholds-for-children-with-hearing-aids-applying-the-american-academy-of-audiology-pediatric-amplification-guideline-implications-for-safety
#16
https://www.readbyqxmd.com/read/27635948/smarcb1-ini1-involvement-in-pediatric-chordoma-a-mutational-and-immunohistochemical-analysis
#17
Manila Antonelli, Alessandro Raso, Samantha Mascelli, Marco Gessi, Paolo Nozza, Antonella Coli, Marina P Gardiman, Antonietta Arcella, Maura Massimino, Francesca R Buttarelli, Felice Giangaspero
Chordomas arise in the skull base and spine and usually occur in adults and are rare in the pediatric population. Cases of chordoma in pediatric age are often poorly differentiated, showing cytologic atypia, increased cellularity, and mitosis, and their aggressive behavior is associated with a high incidence of metastatic spread and a short patient survival. Recent studies have described loss of SMARCB1/INI1 protein in poorly differentiated chordomas associated not with point mutations but with SMARCB1/INI1 gene deletions instead...
January 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27610393/soluble-hla-g-and-hla-e-levels-in-bone-marrow-plasma-samples-are-related-to-disease-stage-in-neuroblastoma-patients
#18
Fabio Morandi, Sarah Pozzi, Barbara Carlini, Loredana Amoroso, Vito Pistoia, Maria Valeria Corrias
The role of nonclassical HLA-class Ib molecules HLA-G and HLA-E in the progression of Neuroblastoma (NB), the most common pediatric extracranial solid tumor, has been characterized in the last years. Since BM infiltration by NB cells is an adverse prognostic factor, we have here analyzed for the first time the concentration of soluble (s)HLA-G and HLA-E in bone marrow (BM) plasma samples from NB patients at diagnosis and healthy donors. sHLA-G and sHLA-E are present in BM plasma samples, and their levels were similar between NB patients and controls, thus suggesting that these molecules are physiologically released by resident or stromal BM cell populations...
2016: Journal of Immunology Research
https://www.readbyqxmd.com/read/27599694/transcript-signatures-that-predict-outcome-and-identify-targetable-pathways-in-mycn-amplified-neuroblastoma
#19
Robin M Hallett, Alex B K Seong, David R Kaplan, Meredith S Irwin
BACKGROUND: In the pediatric cancer neuroblastoma (NB), patients are stratified into low, intermediate or high-risk subsets based in part on MYCN amplification status. While MYCN amplification in general predicts unfavorable outcome, no clinical or genomic factors have been identified that predict outcome within these cohorts of high-risk patients. In particular, it is currently not possible at diagnosis to determine which high-risk neuroblastoma patients will ultimately fail upfront therapy...
November 2016: Molecular Oncology
https://www.readbyqxmd.com/read/27596083/-analysis-of-phenotypes-and-genotypes-in-66-patients-with-21-hydroxylase-deficiency-identified-by-neonatal-screening
#20
R F Wang, X F Gu, J Ye, L S Han, W J Qiu, H W Zhang, Y G Yu, Z W Gong
OBJECTIVE: To analyze the phenotype-genotype correlation of 21-hydroxylase deficiency (21-OHD) patients found by neonatal screening, and to investigate the characteristics of gene frequency of these patients. METHOD: Clinical and biochemical data of 66 21-OHD patients diagnosed by neonatal screening in department of pediatric endocrinology and genetics and neonatal screening center of Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from 2009 to 2014 were retrospectively analyzed...
September 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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