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Richard Quek, Mohamad Farid, Yada Kanjanapan, Cindy Lim, Iain Beehuat Tan, Sittampalam Kesavan, Tony Kiat Hon Lim, Lynette Lin-Ean Oon, Brian Kp Goh, Weng Hoong Chan, Melissa Teo, Alexander Yf Chung, Hock Soo Ong, Wai Keong Wong, Patrick Tan, Desmond Yip
AIM: Benefit of adjuvant imatinib therapy following curative resection in patients with intermediate-risk gastrointestinal stromal tumor (GIST) is unclear. GIST-specific exon mutations, in particular exon 11 deletions, have been shown to be prognostic. We hypothesize that specific KIT mutations may improve risk stratification in patients with intermediate-risk GIST, identifying a subgroup of patients who may benefit from adjuvant therapy. METHODS: In total, 142 GIST patients with complete clinicopathologic and mutational data from two sites were included...
October 17, 2016: Asia-Pacific Journal of Clinical Oncology
Theresa Scholl, Angelika Mühlebner, Gerda Ricken, Victoria Gruber, Anna Fabing, Sharon Samueli, Gudrun Gröppel, Christian Dorfer, Thomas Czech, Johannes A Hainfellner, Avanita S Prabowo, Roy J Reinten, Lisette Hoogendijk, Jasper J Anink, Eleonora Aronica, Martha Feucht
Conventional antiepileptic drugs suppress the excessive firing of neurons during seizures. In drug-resistant patients, treatment failure indicates an alternative important epileptogenic trigger. Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia IIB (FCD) and cortical tubers in Tuberous Sclerosis Complex (TSC). Studies uncovering white matter-pathology mechanisms are therefore urgently needed to gain more insight into epileptogenesis, the propensity to maintain seizures, and their associated comorbidities such as cognitive defects...
October 17, 2016: Brain Pathology
Tae Hee Kim, Hyun Jung Gu, Woo-In Lee, Juhie Lee, Hwi-Joong Yoon, Tae Sung Park
No abstract text is available yet for this article.
September 2016: Blood Research
Huairong Zhang, Bo Gao, Bingyin Shi
Aim. We aim to identify protein kinases involved in the pathophysiology of papillary thyroid carcinoma (PTC) in order to provide potential therapeutic targets for kinase inhibitors and unfold possible molecular mechanisms. Materials and Methods. The gene expression profile of GSE27155 was analyzed to identify differentially expressed genes and mapped onto human protein kinases database. Correlation of kinases with PTC was addressed by systematic literature search, GO and KEGG pathway analysis. Results. The functional enrichment analysis indicated that "mitogen-activated protein kinases pathway" expression was extremely enriched, followed by "neurotrophin signaling pathway," "focal adhesion," and "GnRH signaling pathway...
2016: Disease Markers
Takahide Hayano, Hiroshi Matsui, Hirofumi Nakaoka, Nobuaki Ohtake, Kazuyoshi Hosomichi, Kazuhiro Suzuki, Ituro Inoue
Prostate cancer (PC) is the second most common cancer in men. Family history is the major risk factor for PC. Only two susceptibility genes were identified in PC, BRCA2 and HOXB13. A comprehensive search of germline variants for patients with PC has not been reported in Japanese families. In this study, we conducted exome sequencing followed by Sanger sequencing to explore responsible germline variants in 140 Japanese patients with PC from 66 families. In addition to known susceptibility genes, BRCA2 and HOXB13, we identified TRRAP variants in a mutually exclusive manner in seven large PC families (three or four patients per family)...
2016: PloS One
Bita Geramizadeh, Zahra Jowkar, Seyed-Javad Mousavi
: BACKGROUND Gastrointestinal stromal tumors (GISTs) are potentially malignant tumors; however their behavior and response to treatment is dependent on the type of mutation and immunohistochemical expression of antigens. It is recommended to perform routine molecular and immunohistochemical tests in KIT and platelet derived growth factor receptor alpha (PDGFRA) molecules for making decision regarding targeted therapy and prediction of the behavior of the tumor. OBJECTIVES: There has been no study from Iran regarding the PDGFRA mutational analysis in GISTs...
July 2016: Middle East Journal of Digestive Diseases
Tadashi Kondo
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Gain-of-function mutations in KIT or platelet-derived growth factor receptor alpha (PDGFRA) drive most GISTs, and 85 % of GISTs also contain oncogenic mutations in one of two receptor tyrosine kinases. The advent of tyrosine kinase inhibitors has had a significant impact on the clinical practices for GISTs. However, tumors in more than 80 % of GIST patients acquire resistance against treatments with tyrosine kinase inhibitors; thus, driver mechanisms of secondary resistance as well as biomarkers for early detection of recurrence have been explored for better clinical outcomes...
2016: Advances in Experimental Medicine and Biology
Daniel F Boyer
Evaluation of peripheral blood and bone marrow for an indication of persistent eosinophilia can be a challenging task because there are many causes of eosinophilia and the morphologic differences between reactive and neoplastic causes are often subtle or lack specificity. The purpose of this review is to provide an overview of the differential diagnosis for eosinophilia, to recommend specific steps for the pathologist evaluating blood and bone marrow, and to emphasize 2 important causes of eosinophilia that require specific ancillary tests for diagnosis: myeloproliferative neoplasm with PDGFRA rearrangement and lymphocyte-variant hypereosinophilic syndrome...
October 2016: Archives of Pathology & Laboratory Medicine
José María Sayagués, Luís Antonio Corchete, María Laura Gutiérrez, Maria Eugenia Sarasquete, María Del Mar Abad, Oscar Bengoechea, Encarna Fermiñán, María Fernanda Anduaga, Sofia Del Carmen, Manuel Iglesias, Carmen Esteban, María Angoso, Jose Antonio Alcazar, Jacinto García, Alberto Orfao, Luís Muñoz-Bellvis
Metastatic dissemination is the most frequent cause of death of sporadic colorectal cancer (sCRC) patients. Genomic abnormalities which are potentially characteristic of such advanced stages of the disease are complex and so far, they have been poorly described and only partially understood. We evaluated the molecular heterogeneity of sCRC tumors based on simultaneous assessment of the overall GEP of both coding mRNA and non-coding RNA genes in primary sCRC tumor samples from 23 consecutive patients and their paired liver metastases...
September 20, 2016: Oncotarget
Qiang Gao, Zhi-Chao Wang, Meng Duan, Yi-Hui Lin, Xue-Ya Zhou, Daniel L Worthley, Xiao-Ying Wang, Gang Niu, Yuchao Xia, Minghua Deng, Long-Zi Liu, Jie-Yi Shi, Liu-Xiao Yang, Shu Zhang, Zhen-Bin Ding, Jian Zhou, Chun-Min Liang, Ya Cao, Lei Xiong, Ruibin Xi, Yong-Yong Shi, Jia Fan
BACKGROUND & AIMS: No targeted therapies have been found to be effective against hepatocellular carcinoma (HCC), possibly due to the large degree of intratumor heterogeneity. We performed genetic analyses of different regions of HCCs to evaluate levels of intratumor heterogeneity and associate alterations with responses to different pharmacologic agents. METHODS: We obtained samples of HCCs (associated with hepatitis B virus infection) from 10 patients undergoing curative resection, before adjuvant therapy, at hospitals in China...
September 14, 2016: Gastroenterology
Philipp Kickingereder, David Bonekamp, Martha Nowosielski, Annekathrin Kratz, Martin Sill, Sina Burth, Antje Wick, Oliver Eidel, Heinz-Peter Schlemmer, Alexander Radbruch, Jürgen Debus, Christel Herold-Mende, Andreas Unterberg, David Jones, Stefan Pfister, Wolfgang Wick, Andreas von Deimling, Martin Bendszus, David Capper
Purpose To evaluate the association of multiparametric and multiregional magnetic resonance (MR) imaging features with key molecular characteristics in patients with newly diagnosed glioblastoma. Materials and Methods Retrospective data evaluation was approved by the local ethics committee, and the requirement to obtain informed consent was waived. Preoperative MR imaging features were correlated with key molecular characteristics within a single-institution cohort of 152 patients with newly diagnosed glioblastoma...
September 16, 2016: Radiology
Meng-Li Gu, Ya-Mei Wang, Xin-Xin Zhou, Hang-Ping Yao, Song Zheng, Zun Xiang, Feng Ji
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasm featured by activated mutations of KIT and PDGFRA. Although overall survival rates have greatly improved by the development of receptor tyrosine kinase inhibitors, most patients ultimately acquire resistance due to secondary mutations of KIT or PDGFRA. Inhibition of the histone acetyltransferases (HATs) CREB‑binding protein (CBP) and p300 results in antineoplastic effects in various cancers. To determine whether CBP/p300 can serve as an antineoplastic target for GISTs, specific short interfering RNA sequences and the selective HAT inhibitor C646 were administered to GIST882 cells...
September 12, 2016: Oncology Reports
Maria Abbondanza Pantaleo, Gloria Ravegnini, Annalisa Astolfi, Vittorio Simeon, Margherita Nannini, Maristella Saponara, Milena Urbini, Lidia Gatto, Valentina Indio, Giulia Sammarini, Donatella Santini, Manuela Ferracin, Massimo Negrini, Patrizia Hrelia, Guido Biasco, Sabrina Angelini
AIM: Currently, little is known about differences in miRNA expression between KIT/PDGFRA mutant and KIT/PDGFRA wild-type (WT)-SDH deficient gastrointestinal stromal tumors (GIST). This prompted us to perform an integrated multiple expression profile of miRNA and mRNA, constructing an original miRNA-mRNA regulatory network in KIT/PDGFRA WT-SDH deficient GIST patients. PATIENTS & METHODS: Analyses were carried out on KIT/PDGFRA mutant versus KIT/PDGFRA WT-SDH deficient GIST...
October 2016: Epigenomics
Zoltan Szucs, Khin Thway, Cyril Fisher, Ramesh Bulusu, Anastasia Constantinidou, Charlotte Benson, Winette Ta van der Graaf, Robin L Jones
Primary and secondary resistance to currently available licensed tyrosine kinase inhibitors poses a real clinical challenge in the management of advanced gastrointestinal stromal tumors. Within the frame of early phase clinical trials novel systemic treatments are currently being evaluated to target both the well explored and novel emerging downstream effectors of KIT and PDGFRA signaling. Alternative therapeutic approaches also include exploring novel inhibitors of the KIT/PDGFRA receptors, immune checkpoint and cyclin-dependent kinase inhibitors...
September 7, 2016: Future Oncology
Zoltan Szucs, Khin Thway, Cyril Fisher, Ramesh Bulusu, Anastasia Constantinidou, Charlotte Benson, Winette Ta van der Graaf, Robin L Jones
Gastrointestinal stromal tumors (GISTs) are composed of various molecular subtypes, with differing prognostic and predictive relevance. Previously, tumors lacking mutations in the KIT and PDGFRA genes have been designated as 'wild-type' GISTs; however, they represent a heterogeneous group currently undergoing further subclassification. Primary and secondary resistance to imatinib poses a significant clinical challenge, therefore ongoing research is trying to evaluate mechanisms to overcome resistance. Thorough understanding of the prognostic and predictive relevance of different genetic subtypes of GIST can guide clinical decision-making both in the adjuvant and the metastatic setting...
September 7, 2016: Future Oncology
Julia Dörner, Verena Martinez Rodriguez, Ricarda Ziegler, Theresa Röhrig, Rebecca S Cochran, Ronni M Götz, Mark D Levin, Marjut Pihlajoki, Markku Heikinheimo, David B Wilson
As certain strains of mice age, hyperplastic lesions resembling gonadal tissue accumulate beneath the adrenal capsule. Gonadectomy (GDX) accelerates this heterotopic differentiation, resulting in the formation of wedge-shaped adrenocortical neoplasms that produce sex steroids. Stem/progenitor cells that reside in the adrenal capsule and retain properties of the adrenogonadal primordium are thought to be the source of this heterotopic tissue. Here, we demonstrate that GLI1(+) progenitors in the adrenal capsule give rise to gonadal-like cells that accumulate in the subcapsular region...
August 29, 2016: Molecular and Cellular Endocrinology
Carl Koschmann, Daniel Zamler, Alan MacKay, Dan Robinson, Yi-Mi Wu, Robert Doherty, Bernard Marini, Dustin Tran, Hugh Garton, Karin Muraszko, Patricia Robertson, Marcia Leonard, Lili Zhao, Dale Bixby, Luke Peterson, Sandra Camelo-Piragua, Chris Jones, Rajen Mody, Pedro R Lowenstein, Maria G Castro
Pediatric high-grade glioma (HGG, WHO Grade III and IV) is a devastating brain tumor with a median survival of less than two years. PDGFRA is frequently mutated/ amplified in pediatric HGG, but the significance of this finding has not been fully characterized. We hypothesize that alterations of PDGFRA will promote distinct prognostic and treatment implications in pediatric HGG. In order to characterize the impact of PDGFR pathway alterations, we integrated genomic data from pediatric HGG patients (n=290) from multiple pediatric datasets and sequencing platforms...
August 25, 2016: Oncotarget
Sherise D Ferguson, Joanne Xiu, Shiao-Pei Weathers, Shouhao Zhou, Santosh Kesari, Stephanie E Weiss, Roeland G Verhaak, Raymond J Hohl, Geoffrey R Barger, Sandeep K Reddy, Amy B Heimberger
BACKGROUND: Geriatric glioblastoma (GBM) patients have a poorer prognosis than younger patients, but IDH1/2 mutations (more common in younger patients) confer a favorable prognosis. We compared key GBM molecular alterations between an elderly (age ≥ 70) and younger (18 < = age < = 45) cohort to explore potential therapeutic opportunities. RESULTS: Alterations more prevalent in the young GBM cohort compared to the older cohort (P < 0.05) were: overexpression of ALK, RRM1, TUBB3 and mutation of ATRX, BRAF, IDH1, and TP53...
August 25, 2016: Oncotarget
Carlos A Tirado, Ken Siangchin, David S Shabsovich, Maryam Sharifian, Gary Schiller
BACKGROUND: Acute myeloid leukemia (AML) is commonly characterized by several chromosomal abnormalities resulting in the formation of chimeric genes that play various roles in leukemogenesis. Translocations resulting in the ETV6-ABL1 fusion gene are rare in AML and other hematologic malignancies with only thirty-two previously reported cases in the literature, five of which were AML. FINDINGS: Herein, we report the case of a 73-year-old male with acute myeloid leukemia arising from MDS, negative for PDGFRA and PDGFRB, positive for bone marrow eosinophilia, rash, and marked fluid retention, which improved dramatically with imatinib therapy...
2016: Biomarker Research
Ping Li, Yuan Li, Ai-Hong Zhou, Si Chen, Jing Li, Xiao-Ting Wen, Zi-Yan Wu, Liu-Bing Li, Feng-Chun Zhang, Yong-Zhe Li
BACKGROUND: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. This study was conducted to examine whether the association of a proliferation-inducing ligand (APRIL), spermatogenesis associated 8 (SPATA8), platelet-derived growth factor receptor-alpha (PDGFRA), and DNA polymerase beta (POLB) with SLE can be replicated in a Chinese Han population. METHODS: Chinese SLE patients (n = 1247) and ethnically and geographically matched healthy controls (n = 1440) were genotyped for the APRIL, SPATA8, PDGFRA, and POLB single-nucleotide polymorphisms (SNPs), rs3803800, rs8023715, rs1364989, and rs12678588 using the Sequenom MassARRAY System...
2016: Chinese Medical Journal
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