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Tumour heterogeneity

Arthur J A T Braat, Dik J Kwekkeboom, Boen L R Kam, Jaap J M Teunissen, Wouter W de Herder, Koen M A Dreijerink, Rob van Rooij, Gerard C Krijger, Hugo W A M de Jong, Maurice A A J van den Bosch, Marnix G E H Lam
BACKGROUND: Neuroendocrine tumours (NET) consist of a heterogeneous group of neoplasms with various organs of origin. At diagnosis 21% of the patients with a Grade 1 NET and 30% with a Grade 2 NET have distant metastases. Treatment with peptide receptor radionuclide therapy (PRRT) shows a high objective response rate and long median survival after treatment. However, complete remission is almost never achieved. The liver is the most commonly affected organ in metastatic disease and is the most incriminating factor for patient survival...
June 15, 2018: BMC Gastroenterology
Pohchoo Seow, Jeannie Hsiu Ding Wong, Azlina Ahmad Annuar, Abhishek Mahajan, Nor Aniza Abdullah, Norlisah Ramli
  The diversity of tumour characteristics among glioma patients, even within same tumour grade, is a big challenge for disease outcome prediction. A possible approach for improved radiological imaging could come from combining information obtained at molecular level. This review assembles recent evidence highlighting the value of using radiogenomic biomarkers to infer underlying biology of gliomas and correlation with imaging features.  Methods:  Literature search was done for articles published between 2002 and 2017 on Medline electronic databases...
June 14, 2018: British Journal of Radiology
Stephen G Parker, Ying Yang, Simone Ciampi, Bakul Gupta, Kathleen Kimpton, Friederike M Mansfeld, Maria Kavallaris, Katharina Gaus, J Justin Gooding
For many normal and aberrant cell behaviours, it is important to understand the origin of cellular heterogeneity. Although powerful methods for studying cell heterogeneity have emerged, they are more suitable for common rather than rare cells. Exploring the heterogeneity of rare single cells is challenging because these rare cells must be first pre-concentrated and undergo analysis prior to classification and expansion. Here, a versatile capture & release platform consisting of an antibody-modified and electrochemically cleavable semiconducting silicon surface for release of individual cells of interest is presented...
June 12, 2018: Nature Communications
Beatriz Corredor Andrés, María Teresa Muñoz Calvo, Miguel Ángel López Pino, María Márquez Rivera, Lourdes Travieso Suárez, Jesús Pozo Román, Jesús Argente
BACKGROUND: Central diabetes insipidus (CDI) is a rare disorder in children. The aetiology of CDI in childhood is heterogeneous. The aim of this study is to illustrate the importance of a careful clinical and neuro-radiological follow-up of the pituitary and hypothalamus region in order to identify the aetiology and the development of associated hormonal deficiencies. METHODS: Clinical and auxological variables of 15 children diagnosed with CDI were retrospectively analysed in a paediatric hospital...
June 9, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Adela Nechifor-Boilă, Myriam Decaussin-Petrucci, Agota Varga-Ilyés, Laura Chinezu, Cosmin Caraşca, Angela Borda
We report three primary thyroid angiosarcoma (PTA) cases revealing distinctive morphological features. A systematic literature review completed our analysis to evaluate the most important morphological factors for predicting prognosis in PTAs. Three rare PTA cases were analysed. In addition, we identified 46 previously reported PTAs with available follow-up data to compare morphological features related to prognosis between patients with a favourable <i><i><i><i>versus</i></i></i></i> aggressive outcome...
2018: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
Ireneusz Dziuba, Paweł Kurzawa, Michał Dopierała, Ana B Larque, Danuta Januszkiewicz-Lewandowska
The last 25 years have brought significant progress in the treatment of sarcomas in children, especially rhabdomyosarcoma (RMS). Nevertheless, treatment failure in some patients results from considerable biological heterogeneity noted in these tumours. RMS, the most common malignant soft tissue neoplasm in children, includes two main subtypes: embryonal (ERMS) and alveolar (ARMS). Due to greater aggressiveness and worse prognosis of ARMS in comparison to ERMS, discrimination between different rhabdomyosarcoma subtypes is of crucial clinical importance...
2018: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
Fatima Lousada-Fernandez, Oscar Rapado-Gonzalez, Jose-Luis Lopez-Cedrun, Rafael Lopez-Lopez, Laura Muinelo-Romay, Maria Mercedes Suarez-Cunqueiro
Oral cancer is one of the most prevalent forms of cancer worldwide. Carcinogenesis is a complex process, in which heterogeneity plays an important role in the development and progression of the disease. This review provides an overview of the current biological and clinical significance of circulating tumour cells (CTCs), circulating tumour DNA (ctDNA), and exosomes for diagnosis and prognosis of oral cancer. We highlight the importance of liquid biopsy&mdash;using blood and saliva&mdash;which represents a potential alternative to solid biopsy for diagnosis and prognosis...
June 8, 2018: International Journal of Molecular Sciences
Charlie Bridgewood, Abdulla Watad, Richard J Cuthbert, Dennis McGonagle
PURPOSE OF REVIEW: The spondyloarthopathies (SpA), which encompass related diseases that were originally viewed as autoimmune, are now known to have a strong innate immune or autoinflammatory initiation phase characterized by disease localization to tissue-specific sites based on the nuances and microanatomy and immunology of those sites. This review covers recent translational advances in the field of SpA. RECENT FINDINGS: Imaging studies in SpA continue to add support for the pivotal role of enthesitis in disease initiation and expression...
June 9, 2018: Current Opinion in Rheumatology
Christina Alidousty, Till Baar, Luciano G Martelotto, Carina Heydt, Svenja Wagener, Jana Fassunke, Nicolai Duerbaum, Andreas H Scheel, Sandra Frank, Barbara Holz, Elke Binot, Anna Kron, Sabine Merkelbach-Bruse, Michaela A Ihle, Jürgen Wolf, Reinhard Buettner, Anne Maria Schultheis
The anaplastic lymphoma kinase (ALK) rearrangement defines a distinct molecular subtype of non-small cell lung cancer (NSCLC). Despite the excellent initial efficacy of ALK inhibitors in patients with ALK+ lung cancer, resistance occurs almost inevitably. To date, there is no reliable biomarker allowing the identification of patients at higher risk of relapse. Here, we analysed a subset of 53 ALK+ tumours with and without TP53 mutation and ALK+ NSCLC cell lines by NanoString nCounter technology. We found that the co-occurrence of early TP53 mutations in ALK+ NSCLC can lead to chromosomal instability: 24% of TP53-mutated patients showed amplifications of known cancer genes such as MYC (14%), CCND1 (10%), TERT (5%), BIRC2 (5%), ORAOV1 (5%) and YAP1 (5%)...
June 9, 2018: Journal of Pathology
Willem Grootjans, Lioe-Fee de Geus-Oei, Johan Bussink
With a worldwide annual incidence of 1.8 million cases, lung cancer is the most diagnosed form of cancer in men and the second most diagnosed form of cancer in women. Histologically, 80-85% of all lung cancers can be categorized as non-small cell lung cancer (NSCLC). For patients with locally advanced NSCLC, standard of care is fractionated radiotherapy combined with chemotherapy. With the aim of improving clinical outcome of patients with locally advanced NSCLC, combined and intensified treatment approaches are increasingly being used...
June 4, 2018: Quarterly Journal of Nuclear Medicine and Molecular Imaging
Célia Cintas, Thibaut Douché, Nicole Therville, Silvia Arcucci, Fernanda Ramos-Delgado, Céline Basset, Benoît Thibault, Julie Guillermet-Guibert
For patients with metastatic pancreatic cancer that are not eligible for surgery, signal-targeted therapies have so far failed to significantly improve survival. These therapeutic options have been tested in phase II/III clinical trials mostly in combination with the reference treatment gemcitabine. Innovative therapies aim to annihilate oncogenic dependency, or to normalize the tumoural stroma to allow immune cells to function and/or re-vascularisation to occur. Large scale transcriptomic and genomic analysis revealed that pancreatic cancers display great heterogeneity but failed to clearly delineate specific oncogene dependency, besides oncogenic Kras...
June 1, 2018: Cancers
Makoto Sakama, Nobuyuki Kanematsu
In light ion therapy, the dose concentration is highly sensitive to setup and range errors. Here we propose a method for evaluating the effects of these errors by using the correlation between fractions on tumour control probability (TCP) in carbon-ion therapy. This method incorporates the concept of equivalent stochastic dose (Cranmer-Sargison and Zavgorodni 2005), which was defined as a dose that gives the mean expected survival fraction (SF) for the stochastically variable dose. The mean expected SFs were calculated while considering the correlation between fractions for setup and range errors...
June 4, 2018: Physics in Medicine and Biology
Swapna Siddamalla, Tumu Venkat Reddy, Suresh Govatati, Praveen Guruvaiah, Mamata Deenadayal, Sisinthy Shivaji, Manjula Bhanoori
OBJECTIVE: Polycystic Ovary Syndrome (PCOS) is a heterogeneous multifactorial endocrine metabolic disorder. In addition to hyperandrogenism, acne, hirsutism, obesity, oligoanovulation and infertility, insulin resistance is also a common feature in women of PCOS. Tumor suppressor genes (TSGs) perform essential function in the maintenance of genomic stability and regulatory pathways influencing the activity of several replication and transcription factors. The main aim of this study was to investigate the association of Single Nucleotide Polymorphisms of TP53, BRCA1and BRCA2 genes with the susceptibility to PCOS in South Indian women...
May 24, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Evanthia Kousi, Elizabeth A M O'Flynn, Marco Borri, Veronica A Morgan, Nandita M de Souza, Maria A Schmidt
PURPOSE: Baseline T2* relaxation time has been proposed as an imaging biomarker in cancer, in addition to Dynamic Contrast-Enhanced (DCE) MRI and diffusion-weighted imaging (DWI) parameters. The purpose of the current work is to investigate sources of error in T2* measurements and the relationship between T2* and DCE and DWI functional parameters in breast cancer. METHODS: Five female volunteers and thirty-two women with biopsy proven breast cancer were scanned at 3 T, with Research Ethics Committee approval...
May 31, 2018: Magnetic Resonance Imaging
M Tourne, A Tauziède-Espariat, E Dezamis, R Saffroy, F Dhermain, F Chrétien, P Varlet
BACKGROUND: Collision tumours are often difficult to distinguish from intratumoural heterogeneity in diffuse gliomas. CASE DESCRIPTION: We report the case of a 44-year-old woman admitted for intracranial hypertension. MRI revealed a right intra-axial frontal mass, composed of a hypervascular nodular portion contrasting with a large non-enhanced infiltrative and muliticystic portion. Histopathological examination showed the occurrence of two morphologically different gliomas...
May 30, 2018: World Neurosurgery
Chengzhi Huang, Mengya Yu, Xueqing Yao
OBJECTIVE: Although the role of microRNA-17 (miR-17) has been identified as a tumour biomarker in various studies, its prognostic value in cancers remains unclear. Therefore, we performed a systematic review and meta-analysis to analyse and summarise the relationship between the miR-17 status and clinical outcome in a variety of human cancers. DESIGN: Systematic review and meta-analysis. DATA SOURCES: PubMed, Web of Science and Embase from the first year of records to 15 May 2017...
May 31, 2018: BMJ Open
N Saraiya, A C Yopp, N E Rich, M Odewole, N D Parikh, A G Singal
BACKGROUND: Although studies suggest decreased incident hepatocellular carcinoma (HCC) after direct-acting antivirals (DAA), data are conflicting regarding HCC recurrence and aggressiveness in patients who have a history of HCC with complete response. AIM: Characterize HCC recurrence patterns after DAA therapy. METHODS: Two reviewers searched MEDLINE and SCOPUS from January 2015 to December 2017 and identified studies evaluating HCC recurrence patterns following DAA therapy...
May 30, 2018: Alimentary Pharmacology & Therapeutics
Camille Jacques, Nathalie Renema, Frederic Lezot, Benjamin Ory, Carl R Walkley, Agi E Grigoriadis, Dominique Heymann
Osteosarcoma, Ewing sarcoma and chondrosarcoma are the three main entities of bone sarcoma which collectively encompass more than 50 heterogeneous entities of rare malignancies. In contrast to osteosarcoma and Ewing sarcoma which mainly affect adolescents and young adults and exhibit a high propensity to metastasise to the lungs, chondrosarcoma is more frequently observed after 40 years of age and is characterised by a high frequency of local recurrence. The combination of chemotherapy, surgical resection and radiotherapy has contributed to an improved outcome for these patients...
September 2018: Journal of Bone Oncology
Madhivanan Karthigeyan, Prankul Singhal, Pravin Salunke, Kirti Gupta
Extra-axial central nervous system lesions can occasionally involve the overlying calvarium. The involvement may be due to longstanding pressure effects or secondary to the aggressive behaviour of the lesion. The spectrum of such dural-based lesions varies from infectious/inflammatory to neoplastic etiology. We present a dural-based lesion with the erosion of the overlying calvarium in a young lady. In view of the short history with heterogenous enhancement on magnetic resonance imaging and bony erosion, hemangiopericytoma or malignant meningioma was suspected...
May 2018: Annals of Neurosciences
Dana Wai Yi Tsui, Muhammed Murtaza, Alvin Seng Cheong Wong, Oscar M Rueda, Christopher G Smith, Dineika Chandrananda, Ross A Soo, Hong Liang Lim, Boon Cher Goh, Carlos Caldas, Tim Forshew, Davina Gale, Wei Liu, James Morris, Francesco Marass, Tim Eisen, Tan Min Chin, Nitzan Rosenfeld
Tumour heterogeneity leads to the development of multiple resistance mechanisms during targeted therapies. Identifying the dominant driver(s) is critical for treatment decision. We studied the relative dynamics of multiple oncogenic drivers in longitudinal plasma of 50 EGFR -mutant non-small-cell lung cancer patients receiving gefitinib and hydroxychloroquine. We performed digital PCR and targeted sequencing on samples from all patients and shallow whole-genome sequencing on samples from three patients who underwent histological transformation to small-cell lung cancer...
May 30, 2018: EMBO Molecular Medicine
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