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Paediatric malignancy

Fiona C Brown, Paolo Cifani, Esther Drill, Jie He, Eric Still, Shan Zhong, Sohail Balasubramanian, Dean Pavlick, Bahar Yilmazel, Kristina M Knapp, Todd A Alonzo, Soheil Meshinchi, Richard M Stone, Steven M Kornblau, Guido Marcucci, Alan S Gamis, John C Byrd, Mithat Gonen, Ross L Levine, Alex Kentsis
Cure rates of children and adults with acute myeloid leukaemia (AML) remain unsatisfactory partly due to chemotherapy resistance. We investigated the genetic basis of AML in 107 primary cases by sequencing 670 genes mutated in haematological malignancies. SETBP1, ASXL1 and RELN mutations were significantly associated with primary chemoresistance. We identified genomic alterations not previously described in AML, together with distinct genes that were significantly overexpressed in therapy-resistant AML. Defined gene mutations were sufficient to explain primary induction failure in only a minority of cases...
October 21, 2016: British Journal of Haematology
Apeksha Chaturvedi, R A C Dilhani Ranasinghe, Abhishek Chaturvedi, Steven P Meyers
BACKGROUND: Lesions involving the outer cortical surface of the bone occur quite often among children. Broadly, these include benign cortical, juxtacortical and periarticular lesions, dysplasias affecting the cortical bone, regional and diffuse periosteal pathology and malignant tumours. Some of these lesions are unique to the paediatric population; others are more frequently seen among children than adults - yet others have an adult predilection but can occasionally be seen in children...
October 19, 2016: Insights Into Imaging
Pier P Bassareo, Ines Monte, Claudia Romano, Martino Deidda, Alessandra Piras, Lucia Cugusi, Carmela Coppola, Francesca Galletta, Giuseppe Mercuro
Notwithstanding the steady progress in survival rates of children and adolescents suffering from cancer, the benefits associated with chemotherapy do not come without risks involving multiple organs and systems, including the cardiovascular apparatus. Anthracyclines-often administered in combination with radiation therapy and/or surgery-are the most used chemotherapeutic compounds in order to treat tumours and blood malignancies even in paediatric age. Being an important side-effect of anthracyclines, carduitoxicity may limit their efficacy during the treatment and induce long-term sequelae, observed even many years after therapy completion...
May 2016: Journal of Cardiovascular Medicine
Matthew J Murray, Robert A Huddart, Nicholas Coleman
Testicular germ cell tumours (GCTs) are the most common malignancy occurring in young adult men and the incidence of these tumours is increasing. Current research priorities in this field include improving overall survival for patients classified as being 'poor-risk' and reducing late effects of treatment for patients classified as 'good-risk'. Testicular GCTs are broadly classified into seminomas and nonseminomatous GCTs (NSGCTs). The conventional serum protein tumour markers α-fetoprotein (AFP), human chorionic gonadotrophin (hCG) and lactate dehydrogenase (LDH) show some utility in the management of testicular malignant GCT...
October 18, 2016: Nature Reviews. Urology
Surbhi Goyal, Kiran Mishra, Urvee Sarkar, Satendra Sharma, Anita Kumari
BACKGROUND & OBJECTIVES: Renal tumours constitute about 7 per cent of all neoplasms in children. It is important to differentiate Wilms' tumour (commonest tumour) from non-Wilms' tumours. The aim of this study was to evaluate the immunoexpression and diagnostic role of Wilms' tumour-1 protein (WT1) in paediatric renal tumours. METHODS: A total of 53 cases of renal tumours in children (below 18 yr) who underwent total nephrectomy were included in this retrospective study...
May 2016: Indian Journal of Medical Research
Claudio Spinelli
Thyroid tumors affect all age groups, including children and adolescents. Malignant cancer of the thyroid is a relatively uncommon disease in pediatric age. In the recent decades the incidence of paediatric differentiated thyroid carcinoma (DTC) has increased. DTC in paediatric age is rare and has an excellent prognosis. Compared to adult counterpart, DTC in childhood presents some different features as follows: larger volume at the diagnosis, more frequent multicentricity (both mono- and bilateral), earlier local involvement of soft tissue of the neck, earlier lymph node involvement, distant metastases 3-4 times more frequent (most often in the lungs and almost always functional) and more common post-operatory recurrence; nevertheless, the prognosis of DTC in childhood is better and the survival greater than in adult...
October 13, 2016: Current Pediatric Reviews
Antony George Francis Thottian, Rony Benson, Seema Kashyap, K P Haresh, Subhash Gupta, Dayanand Sharma, Goura Kishor Rath
Second cancers in survivors of hereditary retinoblastoma occur much more commonly than in the general population. This can be attributed both to the germline mutation of the RB gene and chemoradiation used for treatment of this paediatric cancer. Medulloepithelioma is an uncommon tumor of neuroectodermal origin, seen largely in the paediatric population and rarely reported in adults. Though the incidence of second malignancies is common in retinoblastoma, medulloepithelioma as a second malignancy in retinoblastoma survivors is rare, with only one case reported so far...
August 12, 2016: Orbit
Subramanyam Padma, Palaniswamy Shanmuga Sundaram, Anshu Tewari
(18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) is a well-established imaging modality in adult oncological practice. Its role in childhood malignancies needs to be discussed as paediatric malignancies differ from adults in tumor subtypes and they have different tumor biology and FDG uptake patterns. This is also compounded by smaller body mass, dosimetric restrictions, and physiological factors that can affect the FDG uptake. It calls for careful planning of the PET study, preparing the child, the parents, and expertise of nuclear physicians in reporting pediatric positron emission tomography/computed tomography (PET/CT) studies...
July 2016: Indian Journal of Medical and Paediatric Oncology
Christian Radmayr, Hasan S Dogan, Piet Hoebeke, Radim Kocvara, Rien Nijman, Raimund Stein, Shabnam Undre, Serdar Tekgul
CONTEXT: Undescended testis is the most common endocrinological disease in the male newborn period. Incidence varies between 1.0% and 4.6% in full-term neonates, with rates as high as 45% in preterm neonates. Failure or delay of treatment can result in reduced fertility and/or increased testicular cancer risk in adulthood. OBJECTIVE: To provide recommendations for the diagnosis and treatment of boys with undescended testes which reduce the risk of impaired fertility and testicular cancer in adulthood...
September 15, 2016: Journal of Pediatric Urology
Renata Colla, Alberto Izzotti, Chiara De Ciucis, Daniela Fenoglio, Silvia Ravera, Andrea Speciale, Roberta Ricciarelli, Anna Lisa Furfaro, Alessandra Pulliero, Mario Passalacqua, Nicola Traverso, Maria Adelaide Pronzato, Cinzia Domenicotti, Barbara Marengo
Neuroblastoma, a paediatric malignant tumor, is initially sensitive to etoposide, a drug to which many patients develop chemoresistance. In order to investigate the molecular mechanisms responsible for etoposide chemoresistance, HTLA-230, a human MYCN-amplified neuroblastoma cell line, was chronically treated with etoposide at a concentration that in vitro mimics the clinically-used dose. The selected cells (HTLA-Chr) acquire multi-drug resistance (MDR), becoming less sensitive than parental cells to high doses of etoposide or doxorubicin...
September 23, 2016: Oncotarget
Nicola Tufton, Lucy Shapiro, Umasuthan Srirangalingam, Polly Richards, Anju Sahdev, V K Ajith Kumar, Lorraine McAndrew, Lee Martin, Daniel Berney, John Monson, Shern L Chew, Mona Waterhouse, Maralyn Druce, Márta Korbonits, Karl Metcalfe, William M Drake, Helen L Storr, Scott A Akker
OBJECTIVE: For 'asymptomatic carriers' of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers. DESIGN: Review of clinical outcomes of a surveillance regimen in patients identified to have a SDHB gene mutation, based on annual MRI, in a single UK tertiary referral centre. PATIENTS: A total of 92 patients were identified with an SDHB gene mutation...
September 28, 2016: Clinical Endocrinology
Jorrit W van As, Henk van den Berg, Elvira C van Dalen
BACKGROUND: Platinum-based therapy, including cisplatin, carboplatin, oxaliplatin or a combination of these, is used to treat a variety of paediatric malignancies. One of the most important adverse effects is the occurrence of hearing loss or ototoxicity. In an effort to prevent this ototoxicity, different otoprotective medical interventions have been studied. This review is the second update of a previously published Cochrane review. OBJECTIVES: To assess the efficacy of medical interventions to prevent hearing loss and to determine possible effects of these interventions on anti-tumour efficacy, toxicities other than hearing loss and quality of life in children with cancer treated with platinum-based therapy...
September 27, 2016: Cochrane Database of Systematic Reviews
Melanie Schwermer, Sabine Dreesmann, Angelika Eggert, Kristina Althoff, Laura Steenpass, Alexander Schramm, Johannes H Schulte, Petra Temming
BACKGROUND: Retinoblastoma is the most common malignant cancer of the eye in children. While metastatic retinoblastoma is rare, cure rates for this advanced disease remain below 50%. High-level PLK1 expression in retinoblastomas has previously been shown to be correlated with adverse outcome parameters. PLK1 is a serine/threonine kinase involved in cell cycle regulation at the G2/M transition. PLK1 inhibition has been demonstrated to have anti-tumour effects in preclinical models of several paediatric tumours...
September 19, 2016: Clinical & Experimental Ophthalmology
Emma Fosbury, Elwira Szychot, Olga Slater, Mary Mathias, Keith Sibson
Wilms tumour (WT) is the commonest primary malignant renal tumour of childhood. Acquired von Willebrand syndrome (avWS) is a well-described paraneoplastic phenomenon, but it is uncommon and may not be detected until clinically significant bleeding is encountered during interventional procedures. Previous studies on small cohorts of patients have determined an incidence of between 4 and 8%. We have performed a retrospective study on cases of WT presenting over an 11.5-year period to a paediatric haematology/oncology unit in a tertiary referral centre to review the incidence of avWS, bleeding phenotype, management, and response to treatment of the primary pathology...
September 12, 2016: Pediatric Blood & Cancer
Paolo Del Rio, Chiara Montana Montana, Giulia Mingardi, Giovanna Piva, Mario Sianesi, Luigi Corcione
BACKGROUND: The incidence of thyroid carcinoma goes from 0.5 to 10 cases on 100.000, depending on the country, the context and purpose of the study. The high incidence of differentiated thyroid tumor is continuously growing. While most malignant pathologies affect the adults, a proportion of 1-2 % of paediatric population is affected by solitary nodule, of which some are malignant cancers. Studying thyroid malignant cancer, the most sensitive and accurate imaging technique is the colorDoppler ultrasounds...
September 2, 2016: Minerva Endocrinologica
Alex Muturi, Vihar Kotecha, Cynthia Ojee, Desmond Mang'oka, John Muthuri
BACKGROUND: Inflammatory pseudotumour refers to a non-malignant tumour-like mass resulting from an inflammatory reaction that is composed of granulation tissue with leukocyte infiltration that commonly occurs in the paediatric or young adult population. These tumours occur more commonly in the lungs and the orbit but rarely does it affect the gastrointestinal tract. It poses a clinical diagnostic challenge since it is a benign condition than can mimic the malignant counterpart. Our case is a rare presentation of the caecal pseudotumour in the presence of a right undescended abdominal testis evaluated as a caecal tumour with a differential diagnosis of a testicular malignancy...
2016: World Journal of Surgical Oncology
Scott Ryall, Rahul Krishnatry, Anthony Arnoldo, Pawel Buczkowicz, Matthew Mistry, Robert Siddaway, Cino Ling, Sanja Pajovic, Man Yu, Joshua B Rubin, Juliette Hukin, Paul Steinbok, Ute Bartels, Eric Bouffet, Uri Tabori, Cynthia Hawkins
Paediatric brain tumours arising in the thalamus present significant diagnostic and therapeutic challenges to physicians due to their sensitive midline location. As such, genetic analysis for biomarkers to aid in the diagnosis, prognosis and treatment of these tumours is needed. Here, we identified 64 thalamic gliomas with clinical follow-up and characterized targeted genomic alterations using newly optimized droplet digital and NanoString-based assays. The median age at diagnosis was 9.25 years (range, 0...
2016: Acta Neuropathologica Communications
N Sood, N Sehrawat
Rhabdomyosarcoma (RMS) is a fast growing, malignant tumour arising from immature mesenchymal cells, committed to skeletal muscle differentiation. It is more often seen in the paediatric population and constitutes less than 1% of all malignancies and less than 3% of all soft tissue tumours. RMS of the paranasal sinuses constitutes 10-15% of adult head and neck RMS, ethmoidal and maxillary sinuses being the most common. We report a 56-year-oldman presenting with left nasal obstruction, epistaxis on and off and left cheek swelling...
August 2016: Malaysian Journal of Pathology
Theophilos Tzaridis, Till Milde, Kristian W Pajtler, Sebastian Bender, David T W Jones, Simone Müller, Andrea Wittmann, Magdalena Schlotter, Andreas E Kulozik, Peter Lichter, V Peter Collins, Olaf Witt, Marcel Kool, Andrey Korshunov, Stefan M Pfister, Hendrik Witt
Ependymomas in children can arise throughout all compartments of the central nervous system (CNS). Highly malignant paediatric ependymoma subtypes are Group A tumours of the posterior fossa (PF-EPN-A) and RELA-fusion positive (ST-EPN-RELA) tumours in the supratentorial compartment. It was repeatedly reported in smaller series that accumulation of p53 is frequently observed in ependymomas and that immunohistochemical staining correlates with poor clinical outcome, while TP53 mutations are rare. Our TP53 mutation analysis of 130 primary ependymomas identified a mutation rate of only 3%...
August 20, 2016: Oncotarget
Umit Uksal, Pinar Ozturk, Emine Colgecen, Nazan Taslidere, Turkan Patiroglu, Mehmet Akif Ozdemir, Yasemin Altuner Torun, Murat Borlu
OBJECTIVE: Diagnoses of skin, mucosae, hair and nail manifestations in malignant diseases are often challenging because of life-threatening drug reactions, opportunistic infections or skin involvement of primary processes. Description of morphology, configuration and distribution of lesions is important in order to differentiate the self-healing eruptions from serious side effects of chemotherapy. There are case reports from Turkey including dermatological manifestations of malignancies and case series in adult patients but there are no published large group studies assessing all manifestations in children...
June 2016: Eurasian Journal of Medicine
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