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Abbas Agaimy, Matthias Bieg, Michael Michal, Helene Geddert, Bruno Märkl, Jan Seitz, Evgeny A Moskalev, Matthias Schlesner, Markus Metzler, Arndt Hartmann, Stefan Wiemann, Michal Michal, Thomas Mentzel, Florian Haller
Infantile myofibroma (MF) is an uncommon benign myofibroblastic tumor of infancy and childhood. Solitary adult MF shares similar features with infantile MF. The lesions occur in 3 clinicopathologic settings: solitary, multicentric, and generalized and can be either sporadic or familial. Traditionally, infantile MF has been included in the spectrum of infantile hemangiopericytoma. The recent World Health Organization classification listed MF, angioleiomyoma, and myopericytoma under the general heading of perivascular tumors in the sense of a morphologic spectrum of perivascular myoid cell neoplasms...
October 21, 2016: American Journal of Surgical Pathology
Sung-Eun Lim, Virginie Esain, Wanda Kwan, Lindsay N Theodore, Mauricio Cortes, Isaura M Frost, Sarah Y Liu, Trista E North
Hematopoietic stem cells (HSCs) have the ability to both self-renew and differentiate into all the mature blood cell lineages and thereby reconstitute the entire blood system. As such, HSCs are therapeutically valuable for treatment of hematological malignances and bone marrow failure. We recently showed that transient glucose elevation elicited dose-dependent effects on HSCs through elevated metabolic activity and subsequent ROS-mediated induction of Hypoxia Inducible Factor 1α (Hif1α). Platelet Derived Growth Factor B (pdgfb), a Hif1α-target, and its receptor, pdgfrb, were significantly upregulated in response to metabolic stimulation...
October 14, 2016: Experimental Hematology
Javier De Luca-Johnson, Jose I Ruades Ninfea, Lauren Pearson, Joanna Conant, Ronald Bryant, Neil A Zakai, Mary E Tang
We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia...
2016: Case Reports in Medicine
P Pasanen, J Mäkinen, L Myllykangas, R Guerreiro, J Bras, M Valori, M Viitanen, M Baumann, P J Tienari, M Pöyhönen, P Baumann
OBJECTIVES: Primary familial brain calcification (PFBC) is a rare neurological disease often inherited as a dominant trait. Mutations in four genes (SLC20A2, PDGFB, PDGFRB, and XPR1) have been reported in patients with PFBC. Of these, point mutations or small deletions in SLC20A2 are most common. Thus far, only one large deletion covering entire SLC20A2 and several smaller, exonic deletions of SLC20A2 have been reported. The aim of this study was to identify the causative gene defect in a Finnish PFBC family with three affected patients...
October 10, 2016: Acta Neurologica Scandinavica
Liqun He, Michael Vanlandewijck, Elisabeth Raschperger, Maarja Andaloussi Mäe, Bongnam Jung, Thibaud Lebouvier, Koji Ando, Jennifer Hofmann, Annika Keller, Christer Betsholtz
Pericytes, the mural cells of blood microvessels, regulate microvascular development and function and have been implicated in many brain diseases. However, due to a paucity of defining markers, pericyte identification and functional characterization remain ambiguous and data interpretation problematic. In mice carrying two transgenic reporters, Pdgfrb-eGFP and NG2-DsRed, we found that double-positive cells were vascular mural cells, while the single reporters marked additional, but non-overlapping, neuroglial cells...
October 11, 2016: Scientific Reports
Xiujuan Zhang, Ying Chen, Ying Ye, Jianfeng Wang, Hong Wang, Guohong Yuan, Zhe Lin, Yihui Wu, Yan Zhang, Xinhua Lin
Wnt signaling plays essential roles in both embryonic pattern formation and postembryonic tissue homoestasis. High levels of Wnt activity repress foregut identity and facilitate hindgut fate through forming a gradient of Wnt signaling activity along the anterior-posterior axis. Here, we examined the mechanisms of Wnt signaling in hindgut development by differentiating human embryonic stem cells (hESCs) into the hindgut progenitors. We observed severe morphological changes when Wnt signaling was blocked by using Wnt antagonist Dkk1...
September 29, 2016: Cellular Signalling
Jennifer N Saultz, Ben H Kaffenberger, Montoya Taylor, Nyla A Heerema, Rebecca Klisovic
No abstract text is available yet for this article.
September 28, 2016: JAMA Dermatology
Laura E Brown, Da Zhang, Diane L Persons, Abdulraheem Yacoub, Shivani Ponnala, Wei Cui
Various translocations involving the PDGFRB gene are identified in myeloid neoplasms. However, the PRKG2/PDGFRB fusion gene associated with t(4;5)(q21;q33) has previously been reported in only 3 patients. We present the case of a 26-year-old woman with microcytic anemia, basophilia, thrombocytosis, and massive splenomegaly, who was found to have systemic mastocytosis and associated clonal hematological non-mast cell lineage disease (SM-AHNMD), with myeloid neoplasm with PRKG2/PDGFRB rearrangement. Initial findings included basophilia (37%, 4...
2016: Case Reports in Hematology
Chunhua Qin, Hongwei Yin, Xu Zhang, Dongxiao Sun, Qin Zhang, Jianfeng Liu, Xiangdong Ding, Yi Zhang, Shengli Zhang
A genome-wide association study (GWAS) was performed to identify markers and candidate genes for five semen traits in the Holstein bull population in China. The analyzed dataset consisted of records from 692 bulls from eight bull stations; each bull was genotyped using the Illumina BovineSNP50 BeadChip. Association tests between each trait and the 41 188 informative high-quality SNPs were achieved with gapit software. In total, 19 suggestive significant SNPs, partly located within the reported QTL regions or within or close to the reported candidate genes, associated with five semen traits were detected...
September 9, 2016: Animal Genetics
K Byrgazov, R Kastner, M Gorna, G Hoermann, M Koenig, C B Lucini, R Ulreich, M Benesch, V Strenger, H Lackner, W Schwinger, P Sovinz, O A Haas, M van den Heuvel-Eibrink, C M Niemeyer, O Hantschel, P Valent, G Superti-Furga, C Urban, M N Dworzak, T Lion
No abstract text is available yet for this article.
October 7, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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
Jandee Lee, Woo Kyung Lee, Mi-Youn Seol, Seul Gi Lee, Daham Kim, Hyunji Kim, Jongsun Park, Sang Geun Jung, Woong Youn Chung, Eun Jig Lee, Young Suk Jo
Persistent cellular proliferation and metabolic reprogramming are essential processes in carcinogenesis. Here, we performed Gene Set Enrichment Analysis (GSEA) and found that that LETM1, a mitochondrial calcium transporter, is associated with cellular growth signals such as platelet-derived growth factor (PDGF) receptor signaling and insulin signaling pathways. These results were then verified by qRT-PCR and immnunoblotting. Mechanistically, up-regulation of LETM1 induced YAP1 nuclear accumulation, increasing the expression of PDGFB, PDGFRB and THBS4...
August 20, 2016: Oncotarget
Xin Ma, Lei Wang, Hongzhao Li, Yu Zhang, Yu Gao, Gang Guo, Kan Liu, Qingyu Meng, Chaofei Zhao, Dianjun Wang, Zhigang Song, Xu Zhang
Targeted drug decisions in metastatic renal cell carcinoma are exclusively made on the basis of clinical criteria. We investigated whether these biomarkers (HIF-1α, HIF-2α, CAIX, VEGF, VEGFR1, VEGFR2, VEGFR3, PDGFB, PDGFRA, PDGFRB, CD31, CD44, bcl-xL, KIT, p21, CXCR4, PTEN, (CSF)-1R, RET, and FLT-3) can predictive the different effects between sunitinib and sorafenib treatments and are available to guide targeted drug selection. We enrolled all patients who underwent nephrectomy with postoperative sunitinib- or sorafenib-treatment at our institution from 2007 to 2012...
2016: Scientific Reports
N N Tsyba, A G Turkina, E Yu Chelysheva, I S Nemchenko, A M Kovrigina, T N Obukhova, E S Urnova, L A Kuz'mina, V G Savchenko
Myeloproliferative disease associated with FGFR1 rearrangement (8p11), which is included in the 2008 WHO Classification of Myeloid Neoplasms, is a rare and extremely aggressive abnormality. The paper describes a clinical case of a 39-year-old female patient who was detected to have leukocytosis (as high as 47.2·109/l), absolute eosinophilia (as high as 3.1·109/l), and enlarged peripheral lymph nodes during her visit to a doctor. The bone marrow (BM) showed the changes typically encountered in myeloproliferative disease with eosinophilia...
2016: Terapevticheskiĭ Arkhiv
Juha P Laurila, Mikko O Laukkanen, Heikki Joensuu, Marko Salmi, Sirpa Jalkanen
Sunitinib and sorafenib are broad-spectrum tyrosine kinase inhibitors (TKI) targeting, for example, VEGF1-3, PDGFRb, RET, FLT3, CD117 (c-KIT) and CSF-1R cell membrane receptors thus suppressing tumor angiogenesis and cancer cell growth. Recently it has been suggested that the kinases targeted by Sunitinib and/or Sorafenib regulate leukocyte transmigration, which might in part be responsible for the often-observed reduction in tumor-associated myeloid derived suppressor cells and regulatory T cells. The aim of the current study is to determine whether sunitinib or sorafenib inhibit leukocyte extravasation...
November 15, 2016: International Journal of Cancer. Journal International du Cancer
Ruijun Jeanna Su, Brian A Jonas, Jeanna Welborn, Jeffrey Paul Gregg, Mingyi Chen
The 2008 World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues introduced a category for myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. Many of these patients are responsive to tyrosine kinase inhibitor (TKI) therapy. In this case report , we report a unique case of chronic eosinophlic leukemia with novel t(5;12) (q23-31;p13)/ETV6-ACSL6 gene fusion, in which patient was resistant to TKI therapy. This important finding is a novel addition to the above entity in WHO 2008 classification...
September 2016: Hum Pathol (N Y)
Lara Lehtoranta, Olli Vuolteenaho, Jukka Laine, Lauri Polari, Eeva Ekholm, Juha Räsänen
INTRODUCTION: Human type 1 diabetic pregnancy is associated with placental structural and hemodynamic abnormalities. We hypothesized that in rat fetuses of hyperglycemic dams, placental and fetal blood flow velocity waveforms demonstrate compromised hemodynamics when compared to control fetuses, and these hemodynamic parameters correlate with placental structural abnormalities at near term gestation. METHODS: Streptozotocin-induced maternal hyperglycemia group comprised 10 dams with 107 fetuses and the control group 20 dams with 219 fetuses...
August 2016: Placenta
Zibo Li, Xinwu Guo, Lili Tang, Limin Peng, Ming Chen, Xipeng Luo, Shouman Wang, Zhi Xiao, Zhongping Deng, Lizhong Dai, Kun Xia, Jun Wang
Circulating cell-free DNA (cfDNA) has been considered as a potential biomarker for non-invasive cancer detection. To evaluate the methylation levels of six candidate genes (EGFR, GREM1, PDGFRB, PPM1E, SOX17, and WRN) in plasma cfDNA as biomarkers for breast cancer early detection, quantitative analysis of the promoter methylation of these genes from 86 breast cancer patients and 67 healthy controls was performed by using microfluidic-PCR-based target enrichment and next-generation bisulfite sequencing technology...
July 23, 2016: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
Marcus C Chibucos, Sameh Soliman, Teclegiorgis Gebremariam, Hongkyu Lee, Sean Daugherty, Joshua Orvis, Amol C Shetty, Jonathan Crabtree, Tracy H Hazen, Kizee A Etienne, Priti Kumari, Timothy D O'Connor, David A Rasko, Scott G Filler, Claire M Fraser, Shawn R Lockhart, Christopher D Skory, Ashraf S Ibrahim, Vincent M Bruno
Mucormycosis is a life-threatening infection caused by Mucorales fungi. Here we sequence 30 fungal genomes, and perform transcriptomics with three representative Rhizopus and Mucor strains and with human airway epithelial cells during fungal invasion, to reveal key host and fungal determinants contributing to pathogenesis. Analysis of the host transcriptional response to Mucorales reveals platelet-derived growth factor receptor B (PDGFRB) signaling as part of a core response to divergent pathogenic fungi; inhibition of PDGFRB reduces Mucorales-induced damage to host cells...
2016: Nature Communications
M Maccaferri, V Pierini, D Di Giacomo, P Zucchini, F Forghieri, G Bonacorsi, A Paolini, C Quadrelli, F Giacobbi, F Fontana, G Cappelli, L Potenza, R Marasca, M Luppi, C Mecucci
No abstract text is available yet for this article.
June 24, 2016: Leukemia & Lymphoma
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