keyword
MENU ▼
Read by QxMD icon Read
search

Pdgfrb

keyword
https://www.readbyqxmd.com/read/29133777/acute-lymphoblastic-leukemia-patient-with-variant-atf7ip-pdgfrb-fusion-and-favorable-response-to-tyrosine-kinase-inhibitor-treatment-a-case-report
#1
Ge Zhang, Yanle Zhang, Jianrong Wu, Yan Chen, Zhigui Ma
BACKGROUND Chromosomal translocations involving the PDGFRB gene have been reported in a broad spectrum of hematological malignancies. An ATF7IP/PDGFRB fusion was recently identified in a Philadelphia chromosome-like (Ph-like) B-progenitor acute lymphoblastic leukemia (B-ALL) patient. Here we report on a special case of a Ph-like ALL patient who had a variant ATF7IP/PDGFRB fusion. CASE REPORT In this case, a variant fusion was created between ATF7IP exon 9 (instead of exon 13) and PDGFRB exon 11, resulting in the loss of 411 nucleotides and 137 amino acids in the ATF7IP/PDGFRB fusion cDNA and its encoded chimeric protein, respectively...
November 14, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29113426/activating-mutation-of-pdgfrb-gene-in-a-rare-cardiac-undifferentiated-intimal-sarcoma-of-the-left-atrium-a-case-report
#2
Xiaoling Fu, Weixin Niu, Ji Li, Amber J Kiliti, Hikmat A Al-Ahmadie, Gopa Iyer, Sizhi Paul Gao, Qi Li
Cardiac sarcoma is a rare malignant tumor with undefined genetic mutations and no targeted therapy. Here in one rare case of undifferentiated cardiac intimal sarcoma (IS), a next-generation sequencing based assay, MSK-IMPACT (Memorial Sloan Kettering - Integrated Mutation Profiling of Actionable Cancer Targets), identified a somatic, activating mutation in PDGFRB, along with amplification of PDGFRA. This E472D mutation of PDGFRB was discovered for the first time in IS. These findings suggest that concurrent aberrant PDGFRA and PDGFRB signaling may be a diagnostic biomarker and molecular therapeutic target of IS of the heart...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29095068/pro-angiogenic-gene-expression-is-associated-with-better-outcome-on-sunitinib-in-metastatic-clear-cell-renal-cell-carcinoma
#3
Benoit Beuselinck, Annelies Verbiest, Gabrielle Couchy, Sylvie Job, Aurélien de Reynies, Clément Meiller, Maarten Albersen, Virginie Verkarre, Evelyne Lerut, Arnaud Méjean, Jean-Jacques Patard, Brigitte Laguerre, Nathalie Rioux-Leclercq, Patrick Schöffski, Stéphane Oudard, Jessica Zucman-Rossi
OBJECTIVES: Clear-cell renal cell carcinomas (ccRCC) are characterized by hyper-vascularization and can respond to vascular endothelial growth factor receptor (VEGFR) inhibitors such as sunitinib. We aimed to study the predictive value of the expression of genes in the hypoxia induced factor (HIF) - vascular endothelial growth factor (VEGF) - VEGFR-pro-angiogenic pathway in metastatic ccRCC (m-ccRCC) patients treated with sunitinib and the correlation between the expression of these genes and the molecular ccrcc-classification, the expression of genes involved in the immune-suppressive microenvironment and Von Hippel-Lindau (VHL) - and Polybromo-1 (PBRM1) - mutational status...
November 2, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29067740/the-pericytic-phenotype-of-adipose-tissue-derived-stromal-cells-is-promoted-by-notch2
#4
Vincenzo Terlizzi, Matthias Kolibabka, Janette Kay Burgess, Hans Peter Hammes, Martin Conrad Harmsen
Long-term diabetes leads to macrovascular and microvascular complication. In diabetic retinopathy (DR), persistent hyperglycemia causes permanent loss of retinal pericytes and aberrant proliferation of microvascular endothelial cells (EC). Adipose tissue-derived stromal cells (ASC) may serve to functionally replace retinal pericytes and normalize retinal microvasculature during disease progression. We hypothesized that Notch signaling in ASC underlies regulation and stabilization of dysfunctional retinal microvascular networks such as in DR...
October 25, 2017: Stem Cells
https://www.readbyqxmd.com/read/29061079/precision-oncology-neither-a-silver-bullet-nor-a-dream
#5
Nora S Sánchez, Gordon B Mills, Kenna R Mills Shaw
Precision oncology is not an illusion, nor is it the magic bullet that will eradicate all cancers. Precision oncology is simply another weapon in our growing armament against cancer. Rather than honing in on the failures of a relatively young field, one should advocate for integrating its successes into widespread clinical practice, especially for indications, such as: ABL, ALK, BRAF, BRCA1, BRCA2, EGFR, KIT, KRAS, PDGFRA, PDGFRB, ROS1, BCR-ABL, FLT3 and ROS1, where aberrations have been shown to alter responses to US FDA approved drugs - that is, level 1 data...
October 24, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29044863/identification-of-somatic-genetic-alterations-in-ovarian-clear-cell-carcinoma-with-next-generation-sequencing
#6
Yusuke Shibuya, Hideki Tokunaga, Sakae Saito, Kazurou Shimokawa, Fumiki Katsuoka, Li Bin, Kaname Kojima, Masao Nagasaki, Masayuki Yamamoto, Nobuo Yaegashi, Jun Yasuda
Ovarian clear cell carcinoma (OCCC) is the most refractory subtype of ovarian cancer and more prevalent in Japanese than Caucasians (25% and 5% of all ovarian cancer, respectively). The aim of this study is to discover the genomic alterations that may cause OCCC and effective molecular targets for chemotherapy. Paired genomic DNAs of 48 OCCC tissues and corresponding non-cancerous tissues were extracted from formalin-fixed, paraffin embedded specimens collected between 2007 and 2015 at Tohoku University Hospital...
October 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29044676/world-health-organization-defined-eosinophilic-disorders-2017-update-on-diagnosis-risk-stratification-and-management
#7
REVIEW
Jason Gotlib
DISEASE OVERVIEW: The eosinophilias encompass a broad range of nonhematologic (secondary or reactive) and hematologic (primary, clonal) disorders with potential for end-organ damage. DIAGNOSIS: Hypereosinophilia has generally been defined as a peripheral blood eosinophil count greater than 1500/mm(3) and may be associated with tissue damage. After exclusion of secondary causes of eosinophilia, diagnostic evaluation of primary eosinophilias relies on a combination of morphologic review of the blood and marrow, standard cytogenetics, fluorescent in situ-hybridization, flow immunocytometry, and T-cell clonality assessment to detect histopathologic or clonal evidence for an acute or chronic myeloid or lymphoproliferative disorder...
November 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29025601/a-neoplasm-with-fip1l1-pdgfra-fusion-presenting-as-pediatric-t-cell-lymphoblastic-leukemia-lymphoma-without-eosinophilia
#8
Matthew J Oberley, Christopher Denton, Jianling Ji, Matthew Hiemenz, Deepa Bhojwani, Dejerianne Ostrow, Samuel Wu, Paul Gaynon, Gordana Raca
The 2016 World Health Organization (2016 WHO) classification of hematopoietic malignancies classifies neoplasms with a fusion between the FIP1L1 and PDGFRA genes in 4q12 into a group called "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 or with PCM1-JAK2". Neoplasms characterized by this fusion are pluripotent stem cell disorders that can show both myeloid and lymphoid differentiation. They typically occur in adult patients and most are characterized by eosinophilia...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29025582/a-novel-trip11-flt3-fusion-in-a-patient-with-a-myeloid-lymphoid-neoplasm-with-eosinophilia
#9
Alfred Chung, Yanli Hou, Robert S Ohgami, Ann Von Gehr, Dianna G Fisk, Krishna M Roskin, Xu Li, Linda Gojenola, Charles D Bangs, Daniel A Arber, Andrew Z Fire, Athena M Cherry, James L Zehnder, Jason Gotlib, Jason D Merker
FLT3 fusions are associated with myeloid and lymphoid neoplasms with eosinophilia. We describe a patient presenting with clinicopathologic features of both chronic eosinophilic leukemia, not otherwise specified (CEL, NOS) and systemic mastocytosis (SM). The bone marrow demonstrated a myeloproliferative neoplasm with eosinophilia and aggregates of atypical mast cells. Cytogenetic analysis revealed a t(13;14)(q12;q32), which was subsequently molecularly characterized as a novel TRIP11-FLT3 rearrangement. A KIT D816V mutation was also identified...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28993730/molecular-guided-therapy-provides-sustained-clinical-response-in-refractory-choroid-plexus-carcinoma
#10
Albert Cornelius, Jessica Foley, Jeffrey Bond, Abhinav B Nagulapally, Julie Steinbrecher, William P D Hendricks, Maria Rich, Sangeeta Yendrembam, Genevieve Bergendahl, Jeffrey M Trent, Giselle S Sholler
Choroid plexus carcinomas (CPCs) are rare, aggressive pediatric brain tumors with no established curative therapy for relapsed disease, and poor survival rates. TP53 Mutation or dysfunction correlates with poor or no survival outcome in CPCs. Here, we report the case of a 4 month-old female who presented with disseminated CPC. After initial response to tumor resection and adjuvant-chemotherapy, the tumor recurred and metastasized with no response to aggressive relapse therapy suggesting genetic predisposition...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28988501/dermatofibrosarcoma-protuberans-and-gastrointestinal-stromal-tumor-as-models-for-targeted-therapy-in-soft-tissue-sarcomas
#11
Hanna Koseła-Paterczyk, Piotr Rutkowski
The development of novel targeted treatment in soft tissue sarcomas (STS) is important since many sarcoma subtypes are resistant to conventional chemotherapy and effective therapeutic options are limited. Areas covered: This review discusses the molecular background and treatment in two STS types which became a model for targeted therapy - gastrointestinal stromal tumor (GIST) and dermatofibrosarcoma protuberans (DFSP). DFSP is characterized, in the majority of cases, by chromosomal translocation which results in the formation of COL1A1-PDGFB fusion gene causing platelet-derived growth factor receptor beta(PDGFRB) signaling activation in tumor cells...
October 9, 2017: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/28975979/gli2-induces-pdgfrb-expression-and-modulates-cancer-stem-cell-properties-of-gastric-cancer
#12
J-X Wang, J-F Zhou, F-K Huang, L Zhang, Q-L He, H-Y Qian, H-L Lai
OBJECTIVE: In this study, we aimed to investigate the downstream effector of GLI2 in gastric cancer (GC) and their regulative effect on cancer stem cell (CSC) properties of GC. MATERIALS AND METHODS: Bioinformatic data mining was performed in TCGA-Stomach Adenocarcinoma (STAD), as well as in Kaplan-Meier plotter. Moderate-differentiated GC cell line SGC-7901 and poor-differentiated GC cell line MKN-45 were used as in-vitro model to investigate the regulative effect of GLI2 on PDGFRB expression...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28972016/philadelphia-chromosome-like-acute-lymphoblastic-leukemia
#13
REVIEW
Sarah K Tasian, Mignon L Loh, Stephen P Hunger
Philadelphia chromosome (Ph)-like acute lymphoblastic leukemia (ALL), also referred to as BCR-ABL1-like ALL, is a high-risk subset with a gene expression profile that shares significant overlap with that of Ph-positive (Ph(+)) ALL and is suggestive of activated kinase signaling. Although Ph(+) ALL is defined by BCR-ABL1 fusion, Ph-like ALL cases contain a variety of genomic alterations that activate kinase and cytokine receptor signaling. These alterations can be grouped into major subclasses that include ABL-class fusions involving ABL1, ABL2, CSF1R, and PDGFRB that phenocopy BCR-ABL1 and alterations of CRLF2, JAK2, and EPOR that activate JAK/STAT signaling...
November 9, 2017: Blood
https://www.readbyqxmd.com/read/28954105/episodic-angioedema-associated-with-eosinophilia
#14
Fang Liu, Wenxing Hu, Haibo Liu, Min Zhang, Hong Sang
We report a 12-year-old girl who presented with recurrent angioedema on the face, trunk, and extremities, and concomitant marked weight gain for 5 years. During the episode, her white blood cell count increased to 47.7×109/L with 89.9% eosinophils, followed by elevated serum level of IL-5, IgE, IgM, and LDH. Histopathology showed perivascular eosinophilic infiltration and diffuse eosinophilic infiltration throughout the dermis. Possible causes of hypereosinophilia and eosinophilic infiltration of vital organs were ruled out...
July 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28935882/clinical-and-radiological-diversity-in-genetically-confirmed-primary-familial-brain-calcification
#15
Shingo Koyama, Hidenori Sato, Ryota Kobayashi, Shinobu Kawakatsu, Masayuki Kurimura, Manabu Wada, Toru Kawanami, Takeo Kato
Primary familial brain calcification (PFBC) is a rare neuropsychiatric disorder with characteristic symmetrical brain calcifications. Patients with PFBC may have a variety of symptoms, although they also may be clinically asymptomatic. Parkinsonism is one of the most common movement disorders; however, the underlying mechanism remains unclear. This condition is typically transmitted in an autosomal dominant fashion. To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to cause PFBC. The aim of the study was to identify the genetic cause of brain calcification in probands from three PFBC families and in 8 sporadic patients and to perform clinical and radiological assessments focusing on parkinsonism in mutation carriers...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28924035/stat1-modulates-tissue-wasting-or-overgrowth-downstream-from-pdgfr%C3%AE
#16
Chaoyong He, Shayna C Medley, Jang Kim, Chengyi Sun, Hae Ryong Kwon, Hiromi Sakashita, Yair Pincu, Longbiao Yao, Danielle Eppard, Bojie Dai, William L Berry, Timothy M Griffin, Lorin E Olson
Platelet-derived growth factor (PDGF) acts through two conserved receptor tyrosine kinases: PDGFRα and PDGFRβ. Gain-of-function mutations in human PDGFRB have been linked recently to genetic diseases characterized by connective tissue wasting (Penttinen syndrome) or overgrowth (Kosaki overgrowth syndrome), but it is unclear whether PDGFRB mutations alone are responsible. Mice with constitutive PDGFRβ signaling caused by a kinase domain mutation (D849V) develop lethal autoinflammation. Here we used a genetic approach to investigate the mechanism of autoinflammation in Pdgfrb(+/D849V) mice and test the hypothesis that signal transducer and activator of transcription 1 (STAT1) mediates this phenotype...
August 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28873240/gastric-poorly-cohesive-carcinoma-a-correlative-study-of-mutational-signatures-and-prognostic-significance-based-on-histopathologic-subtypes
#17
Chae Hwa Kwon, Young Keum Kim, Sojeong Lee, Ahrong Kim, Hye Ji Park, Yuri Choi, Yeo Jin Won, Do Youn Park, Gregory Y Lauwers
AIMS: Genome-wide next-generation sequencing has revealed several driver mutations and allows establishing a molecular taxonomy of gastric cancer. However, correlation between the broad mutational spectrum of gastric cancer and its various clinicopathological characteristics has yet to be fully elucidated. METHODS AND RESULTS: Herein, we analyzed the mutational pattern of 77 genes in a cohort of 91 patients with poorly cohesive carcinoma using targeted sequencing and evaluated the clinicopathological significance of the various mutations based its histologic pattern, either signet ring cell (SRC) or other types of poorly cohesive carcinoma (not otherwise specified) (PCC-NOS)...
September 5, 2017: Histopathology
https://www.readbyqxmd.com/read/28766044/analysis-of-gene-expression-and-functional-characterization-of-xpr1-a-pathogenic-gene-for-primary-familial-brain-calcification
#18
Xiang-Ping Yao, Miao Zhao, Chong Wang, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong, Hai-Ting Chen, Jing-Hui Lai, Yao-Bin Liu, Ning Wang, Wan-Jin Chen
Primary familial brain calcification (PFBC) is a neuropsychiatric disorder characterized by bilateral cerebral calcification with diverse neurologic or psychiatric symptoms. Recently, XPR1 variation has accounted for PFBC as another new causative gene. However, little is known about the distribution and basic function of XPR1 and its interaction with the other three pathogenic genes for PFBC (SLC20A2, PDGFRB and PDGFB). The aim of this study was to further clarify the role of XPR1 in PFBC brain pathology. As a result, gene expression profiles showed that XPR1 mRNA was widely expressed throughout the mouse brain...
November 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28756885/-sporadic-infantile-myofibromatosis-mutations-with-pdgfrb-gain-of-function
#19
O Dereure
No abstract text is available yet for this article.
July 27, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28751768/cytogenetically-cryptic-zmym2-flt3-and-diaph1-pdgfrb-gene-fusions-in-myeloid-neoplasms-with-eosinophilia
#20
M Jawhar, N Naumann, M Knut, J Score, M Ghazzawi, B Schneider, K-A Kreuzer, M Hallek, H G Drexler, J Chacko, L Wallis, A Fabarius, G Metzgeroth, W-K Hofmann, A Chase, W Tapper, A Reiter, N C P Cross
No abstract text is available yet for this article.
October 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
keyword
keyword
20662
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"