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https://www.readbyqxmd.com/read/29332062/cytologic-features-of-malignant-melanoma-with-osteoclast-like-giant-cells
#1
José A Jiménez-Heffernan, Magdalena Adrados, Patricia Muñoz-Hernández, Paloma Fernández-Rico, Ana I Ballesteros-García, Javier Fraga
BACKGROUND: Malignant melanoma showing numerous osteoclast-like giant cells (OGCs) is an uncommon morphologic phenomenon, rarely mentioned in the cytologic literature. The few reported cases seem to have an aggressive clinical behavior. Although most findings support monocyte/macrophage differentiation, the exact nature of OGCs is not clear. CASE: A 57-year-old woman presented with an inguinal lymphadenopathy. Sixteen years before, cutaneous malignant melanoma of the lower limb had been excised...
January 13, 2018: Acta Cytologica
https://www.readbyqxmd.com/read/29329129/primary-cutaneous-spindle-cell-squamous-carcinoma-expressing-smooth-muscle-actin-diagnostic-pitfalls
#2
Abdullahi Ahmad, Hye Jin Chung, Jag Bhawan
Alpha smooth muscle actin (SMA) belongs to the actin proteins. It is a known immunohistochemical marker for tumors of mesenchymal origin. There have been reports of expression of SMA in certain epithelial malignancies in the head and neck and genital regions. In this study, the authors report a primary cutaneous spindle cell squamous carcinoma expressing SMA. Both high- and low-molecular-weight keratins and p63 were positive, and S100 protein, SOX10, MART-1/Melan-A, and muscle-specific actin stains were negative...
January 11, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29315345/identification-and-functional-analysis-of-sox10-phosphorylation-sites-in-melanoma
#3
Julia C Cronin, Stacie K Loftus, Laura L Baxter, Steve Swatkoski, Marjan Gucek, William J Pavan
The transcription factor SOX10 plays an important role in vertebrate neural crest development, including the establishment and maintenance of the melanocyte lineage. SOX10 is also highly expressed in melanoma tumors, and SOX10 expression increases with tumor progression. The suppression of SOX10 in melanoma cells activates TGF-β signaling and can promote resistance to BRAF and MEK inhibitors. Since resistance to BRAF/MEK inhibitors is seen in the majority of melanoma patients, there is an immediate need to assess the underlying biology that mediates resistance and to identify new targets for combinatorial therapeutic approaches...
2018: PloS One
https://www.readbyqxmd.com/read/29314300/low-grade-fibromyxoid-sarcoma-arising-within-the-median-nerve
#4
Amy A Swanson, Caterina Giannini, Andrew L Folpe, Daniel L Van Dyke, Kimberly K Amrami, William A Michalak, Rachael A Vaubel
We report a case of low-grade fibromyxoid sarcoma arising within the median nerve. A 31-year-old woman presented with symptoms of carpal tunnel syndrome and an enlarging mass in her right palm over 1 year. MRI demonstrated a mass associated with the right median nerve with solid and cystic components. At surgery, the mass was located within the epineurium, could be bluntly dissected from the nerve fascicles, and was suspected to be a schwannoma. A 3.4 cm, tan-pink, glistening, smooth, homogenous mass was submitted to pathology...
January 3, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29309307/a-distinct-malignant-epithelioid-neoplasm-with-gli1-gene-rearrangements-frequent-s100-protein-expression-and-metastatic-potential-expanding-the-spectrum-of-pathologic-entities-with-actb-malat1-ptch1-gli1-fusions
#5
Cristina R Antonescu, Narasimhan P Agaram, Yun-Shao Sung, Lei Zhang, David Swanson, Brendan C Dickson
ACTB-GLI1 fusions have been reported as the pathognomonic genetic abnormality defining an unusual subset of actin-positive, perivascular myoid tumors, known as "pericytoma with the t(7;12) translocation." In addition, GLI1 oncogenic activation through a related MALAT1-GLI1 gene fusion has been recently reported in 2 unrelated gastric tumors, namely plexiform fibromyxoma and gastroblastoma. Triggered by unexpected targeted RNA-sequencing results detecting GLI1-related fusions in a group of malignant neoplasms with round to epithelioid morphology, and frequently strong S100 protein immunoreactivity, we investigated their clinicopathologic features in relation to other known pathologic entities sharing similar genetics...
January 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29299138/new-role-of-id3-in-melanoma-adaptive-drug-resistance
#6
Sachindra, Lionel Larribère, Daniel Novak, Huizi Wu, Laura Hüser, Karol Granados, Elias Orouji, Jochen Utikal
Adaptive resistance to targeted therapy such as BRAF inhibitors represents in melanoma a major drawback to this otherwise powerful treatment. Some of the underlying molecular mechanisms have recently been described: hyperactivation of the BRAF-MAPK pathway, of the AKT pathway, of the TGFβ/EGFR/PDGFRB pathway, or the low MITF/AXL ratio. Nevertheless, the phenomenon of early resistance is still not clearly understood. In this report, we show that knockdown of neural crest-associated gene ID3 increases the melanoma sensitivity to vemurafenib short-term treatment...
December 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/29295999/erk-mediated-phosphorylation-regulates-sox10-sumoylation-and-targets-expression-in-mutant-braf-melanoma
#7
Shujun Han, Yibo Ren, Wangxiao He, Huadong Liu, Zhe Zhi, Xinliang Zhu, Tielin Yang, Yu Rong, Bohan Ma, Timothy J Purwin, Zhenlin Ouyang, Caixia Li, Xun Wang, Xueqiang Wang, Huizi Yang, Yan Zheng, Andrew E Aplin, Jiankang Liu, Yongping Shao
In human mutant BRAF melanoma cells, the stemness transcription factor FOXD3 is rapidly induced by inhibition of ERK1/2 signaling and mediates adaptive resistance to RAF inhibitors. However, the mechanism underlying ERK signaling control of FOXD3 expression remains unknown. Here we show that SOX10 is both necessary and sufficient for RAF inhibitor-induced expression of FOXD3 in mutant BRAF melanoma cells. SOX10 activates the transcription of FOXD3 by binding to a regulatory element in FOXD3 promoter. Phosphorylation of SOX10 by ERK inhibits its transcription activity toward multiple target genes by interfering with the sumoylation of SOX10 at K55, which is essential for its transcription activity...
January 2, 2018: Nature Communications
https://www.readbyqxmd.com/read/29260792/a-novel-role-for-oligodendrocyte-precursor-cells-opcs-and-sox10-in-mediating-cellular-and-behavioral-responses-to-heroin
#8
Jennifer A Martin, Aaron Caccamise, Craig T Werner, Rathipriya Viswanathan, Jessie J Polanco, Andrew F Stewart, Shruthi A Thomas, Fraser J Sim, David M Dietz
Opiate abuse and addiction have become a worldwide epidemic with great societal and financial burdens, highlighting a critical need to understand the neurobiology of opiate addiction. While several studies have focused on drug-dependent changes in neurons, the role of glia in opiate addiction remains largely unstudied. RNA sequencing pathway analysis from the prefrontal cortex of male rats revealed changes in several genes associated with oligodendrocyte differentiation and maturation following heroin self-administration...
December 20, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29240581/cutaneous-melanocytoma-with-crtc1-trim11-fusion-report-of-5-cases-resembling-clear-cell-sarcoma
#9
Lucie Cellier, Emilie Perron, Daniel Pissaloux, Marie Karanian, Veronique Haddad, Laurent Alberti, Arnaud de la Fouchardière
We report 5 cases of primary intradermal nodular unpigmented tumors with a melanocytic immunophenotype associated with a novel CRTC1-TRIM11 fusion. Clinically, the cutaneous nodules were slowly growing in 3 women and 2 men (25 to 82 y old, median, 28 y) with no specific topography. Lesion size ranged from 4 to 12 mm (median, 5 mm). The tumors were strictly located in the dermis with a nodular pattern. The cells were arranged in confluent nests and fascicules. Central fibronecrotic areas were present in 2 cases...
December 7, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29233551/generation-of-adrenal-chromaffin-like-cells-from-human-pluripotent-stem%C3%A2-cells
#10
Kwaku Dad Abu-Bonsrah, Dongcheng Zhang, Andrew R Bjorksten, Mirella Dottori, Donald F Newgreen
Adrenomedullary chromaffin cells are catecholamine (CA)-producing cells originating from trunk neural crest (NC) via sympathoadrenal progenitors (SAPs). We generated NC and SAPs from human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) in vitro via BMP2/FGF2 exposure, ascertained by qPCR and immunoexpression of SOX10, ASCL1, TFAP2α, and PHOX2B, and by fluorescence-activated cell sorting selection for p75NTR and GD2, and confirmed their trunk-like HOX gene expression. We showed that continuing BMP4 and curtailing FGF2 in vitro, augmented with corticosteroid mimetic, induced these cells to upregulate the chromaffin cell-specific marker PNMT and other CA synthesis and storage markers, and we demonstrated noradrenaline and adrenaline by Faglu and high-performance liquid chromatography...
November 27, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29227283/sharpin-mediated-regulation-of-protein-arginine-methyltransferase-5-controls-melanoma-growth
#11
Hironari Tamiya, Hyungsoo Kim, Oleksiy Klymenko, Heejung Kim, Yongmei Feng, Tongwu Zhang, Ji Yun Han, Ayako Murao, Scott J Snipas, Lucia Jilaveanu, Kevin Brown, Harriet Kluger, Hao Zhang, Kazuhiro Iwai, Ze'ev A Ronai
SHARPIN, an adaptor for the linear ubiquitin chain assembly complex (LUBAC), plays important roles in NF-κB signaling and inflammation. Here, we have demonstrated a LUBAC-independent role for SHARPIN in regulating melanoma growth. We observed that SHARPIN interacted with PRMT5, a type II protein arginine methyltransferase, and increased its multiprotein complex and methyltransferase activity. Activated PRMT5 controlled the expression of the transcription factors SOX10 and MITF by SHARPIN-dependent arginine dimethylation and inhibition of the transcriptional corepressor SKI...
December 11, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29224790/increased-expression-of-semaphorin-3a-in-the-endothelin-receptor-b-null-mouse-model-of-hirschsprung-disease
#12
Naho Fujiwara, Katsumi Miyahara, Nana Nakazawa-Tanaka, Chihiro Akazawa, Atsuyuki Yamataka
PURPOSE: Semaphorins are guidance cues for developing neurons, implicated in the determination of the migratory pathway of neural crest-derived neural precursors during enteric nervous system development. Recently, it has been reported that Semaphorin 3A (SEMA3A) expression is up-regulated in the aganglionic colon in Hirschsprung disease (HD) patients, suggesting that increased SEMA3A expression may be a risk factor for HD. Thus, the aim of our study was to determine the expression of SEMA3A using Sox10-Venus mice gut...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29224278/-clinicopathologic-and-molecular-genetic-characterizations-of-biphenotypic-sinonasal-sarcoma
#13
M Zhao, Q Y LaoI, D H Zhao, J Ma, G Q Ru, X L He, Z Wang, J Wang
Objective: To investigate the clinicopathologic characteristics, immunophenotypes, molecular genetics, and diagnostic and differential diagnostic features of biphenotypic sinonasal sarcoma (BSNS). Methods: Three cases of BSNS were retrieved, the histomorphology, immunophenotype and molecular genetics were analyzed with review of literature. Results: There were 2 male and 1 female patient aged 45, 29 and 40 years, respectively.Computed tomography and magnetic resonance imaging examinations showed a large polypoid mass occupying the sinonasal cavity in all 3 patients...
December 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29216801/first-report-of-prenatal-ascertainment-of-a-fetus-with-homozygous-loss-of-the-sox10-gene-and-phenotypic-correlation-by-autopsy-examination
#14
David P LeBel, Daynna J Wolff, Nicholas I Batalis, Tara Ellingham, Natalie Matics, Sanjay C Patwardhan, Iya Y Znoyko, Cynthia A Schandl
The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. This deletion is correlated using family history, prenatal ultrasound, microarray analysis of amniotic fluid, and ultimately, a medical autopsy examination to further elucidate phenotypic effects of this genetic variation...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29181082/sox10-mitf-pathway-activity-in-melanoma-cells
#15
Karol B Tudrej, Edyta Czepielewska, Małgorzata Kozłowska-Wojciechowska
Melanoma is one of the most dangerous and lethal skin cancers, with a considerable metastatic potential and drug resistance. It involves a malignant transformation of melanocytes. The exact course of events in which melanocytes become melanoma cells remains unclear. Nevertheless, this process is said to be dependent on the occurrence of cells with the phenotype of progenitor cells - cells characterized by expression of proteins such as nestin, CD-133 or CD-271. The development of these cells and their survival were found to be potentially dependent on the neural crest stem cell transcription factor SOX10...
October 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29150011/optimization-of-crispr-cas9-genome-editing-for-loss-of-function-in-the-early-chick-embryo
#16
Shashank Gandhi, Michael L Piacentino, Felipe M Vieceli, Marianne E Bronner
The advent of CRISPR/Cas9 has made genome editing possible in virtually any organism, including those not previously amenable to genetic manipulations. Here, we present an optimization of CRISPR/Cas9 for application to early avian embryos with improved efficiency via a three-fold strategy. First, we employed Cas9 protein flanked with two nuclear localization signal sequences for improved nuclear localization. Second, we used a modified guide RNA (gRNA) scaffold that obviates premature termination of transcription and unstable Cas9-gRNA interactions...
December 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29149196/easy-xeno-free-and-feeder-free-method-for-isolating-and-growing-limbal-stromal-and-epithelial-stem-cells-of-the-human-cornea
#17
Djida Ghoubay-Benallaoua, Céline de Sousa, Raphaël Martos, Gaël Latour, Marie-Claire Schanne-Klein, Elisabeth Dupin, Vincent Borderie
Epithelial and stromal stem cells are required to maintain corneal transparency. The aim of the study was to develop a new method to isolate and grow both corneal stromal (SSC) and epithelial limbal (LSC) stem cells from small human limbal biopsies under culture conditions in accordance with safety requirements mandatory for clinical use in humans. Superficial limbal explants were retrieved from human donor corneo-scleral rims. Human limbal cells were dissociated by digestion with collagenase A, either after epithelial scraping or with no scraping...
2017: PloS One
https://www.readbyqxmd.com/read/29136686/-clinicopathologic-and-molecular-characteristics-of-malignant-gastrointestinal-neuroectodermal-tumors
#18
M Zhao, T W Zhao, J Ma, C Y Wu, L Chen, G Q Ru, X L He
Objective: To investigate the clinicopathologic and molecular characteristics, diagnostic, differential diagnostic and prognostic features of malignant gastrointestinal neuroectodermal tumor. Methods: Two cases of malignant gastrointestinal neuroectodermal tumor were retrieved; the clinical and radiologic features, histomorphology, immunophenotype, molecular genetics and prognosis were analyzed and the relevant literature reviewed. Results: Case 1 was a 57-year-old male, presented with recurrent abdominal pain and melena...
November 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29130118/sox10-positive-cells-emerge-in-the-rat-pituitary-gland-during-late-embryogenesis-and-start-to-express-s100%C3%AE
#19
Hiroki Ueharu, Saishu Yoshida, Naoko Kanno, Kotaro Horiguchi, Naoto Nishimura, Takako Kato, Yukio Kato
In the pituitary gland, S100β-positive cells localize in the neurohypophysis and adenohypophysis but the lineage of the two groups remains obscure. S100β is often observed in many neural crest-derived cell types. Therefore, in this study, we investigate the origin of pituitary S100β-positive cells by immunohistochemistry for SOX10, a potent neural crest cell marker, using S100β-green fluorescence protein-transgenic rats. On embryonic day 21.5, a SOX10-positive cell population, which was also positive for the stem/progenitor cell marker SOX2, emerged in the pituitary stalk and posterior lobe and subsequently expanded to create a rostral-caudal gradient on postnatal day 3 (P3)...
November 13, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/29111096/multinodular-and-vacuolating-neuronal-tumor-of-the-cerebrum-a-rare-entity-new-case-and-review-of-the-literature
#20
Lain Hermes Gonzalez-Quarante, Fernando Ruiz-Juretschke, Emma Sola Vendrell, Oscar Lucas Gil de Sagredo Del Corral, Vijay Agarwal, Roberto Garcia-Leal
BACKGROUND: Multinodular and vacuolating neuronal tumor has been recently described and included in the World Health Organization Classification of Tumors of The Central Nervous System, even though its consideration as a true tumor is controversial. Patients with these lesions usually present with refractory seizures and inconclusive imaging findings that may be confused with other more common diagnoses such as dysembryoplastic neuroepithelial tumors or low-grade gliomas. Therefore, surgical resection is warranted to reach a pathologic diagnosis and seizure control...
October 28, 2017: Neurocirugía
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