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Adult rhabdomyosarcoma

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https://www.readbyqxmd.com/read/28643791/ewsr1-fusion-proteins-mediate-pax7-expression-in-ewing-sarcoma
#1
Gregory W Charville, Wei-Lien Wang, Davis R Ingram, Angshumoy Roy, Dafydd Thomas, Rajiv M Patel, Jason L Hornick, Matt van de Rijn, Alexander J Lazar
PAX7 is a paired-box transcription factor that is required for the developmental specification of adult skeletal muscle progenitors in mice. We previously demonstrated PAX7 expression as a marker of skeletal muscle differentiation in rhabdomyosarcoma. Here, using analyses of published whole-genome gene expression microarray data, we identify PAX7 as a gene with significantly increased expression in Ewing sarcoma in comparison to CIC-DUX4 round cell sarcoma. Analysis of PAX7 in a large cohort of 103 Ewing sarcoma cases by immunohistochemistry revealed expression in 99...
June 23, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28640941/phox2b-reliably-distinguishes-neuroblastoma-among-small-round-blue-cell-tumors
#2
Yin P Hung, John P Lee, Andrew M Bellizzi, Jason L Hornick
AIMS: Neuroblastoma shows considerable histologic overlap with other small round blue cell tumors. PHOX2B, a transcription factor essential for autonomic nervous system development, has been reported as an immunohistochemical marker for neuroblastoma. The purpose of this study was to validate the specificity and diagnostic utility of PHOX2B for peripheral neuroblastic tumors. METHODS AND RESULTS: We evaluated 240 cases (133 in whole-tissue sections; 107 in tissue microarrays), including 76 peripheral neuroblastic tumors [median age 2 years; including 4 adults] and 164 other tumors: 44 Wilms tumors; 20 Ewing sarcomas; 10 each CIC-rearranged round cell sarcomas, poorly differentiated synovial sarcomas, lymphoblastic lymphomas, alveolar rhabdomyosarcomas, embryonal rhabdomyosarcomas, mesenchymal chondrosarcomas, Merkel cell carcinomas, olfactory neuroblastomas, and melanomas; 5 each NUT midline carcinomas and desmoplastic small round cell tumors...
June 22, 2017: Histopathology
https://www.readbyqxmd.com/read/28634755/rhabdomyosarcoma-of-the-lower-female-genital-tract-an-analysis-of-144-cases
#3
Dimitrios Nasioudis, Michail Alevizakos, Eloise Chapman-Davis, Steven S Witkin, Kevin Holcomb
PURPOSE: The aim of the present study was to elucidate the clinico-pathological characteristics of female patients with lower genital tract rhabdomyosarcoma (RMS) stratified by age group and investigate their prognosis, using a multi-institutional database. METHODS: The National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) database was accessed (1973-2013) and a cohort of females diagnosed with RMS of the lower genital tract (vulva, vagina, cervix) was drawn...
June 20, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28616573/yap-and-the-hippo-pathway-in-pediatric-cancer
#4
REVIEW
Atif A Ahmed, Abdalla D Mohamed, Melissa Gener, Weijie Li, Eugenio Taboada
The Hippo pathway is an important signaling pathway that controls cell proliferation and apoptosis. It is evolutionarily conserved in mammals and is stimulated by cell-cell contact, inhibiting cell proliferation in response to increased cell density. During early embryonic development, the Hippo signaling pathway regulates organ development and size, and its functions result in the coordinated balance between proliferation, apoptosis, and differentiation. Its principal effectors, YAP and TAZ, regulate signaling by the embryonic stem cells and determine cell fate and histogenesis...
2017: Molecular & Cellular Oncology
https://www.readbyqxmd.com/read/28594087/adult-prostatic-sarcoma-a-contemporary-multicenter-rare-cancer-network-study
#5
Berardino De Bari, Bradley Stish, Mark Wayne Ball, Yacob Habboush, Paul Sargos, Marco Krengli, Alberto Bossi, Armando Stabile, Claudio Sole Pesutic, Laëtitia Lestrade, Robert Jan Smeenk, Barbara Alicja Jereczek-Fossa, Thomas Zilli, Gilles Créhange, Filippo Alongi, Nicholas Zaorsky, Mahmut Ozsahin
INTRODUCTION: Adult prostatic sarcoma (PS) is a rare disease. While surgery is considered the standard approach, the role of other therapies is not completely established. We report results of the largest multicentric contemporary cohort of PS patients. MATERIALS AND METHODS: This study included 61 adult PS patients treated in 16 American and European Institutions. Median age was 64.4 years (range: 22-87). Curative surgery was delivered in 48 patients (prostatectomy = 26, cystoprostatectomy = 22), usually with lymphadenectomy (n = 40)...
June 8, 2017: Prostate
https://www.readbyqxmd.com/read/28530261/a-rare-case-of-embryonal-rhabdomyosarcoma-of-the-parapharyngeal-space
#6
G Iannella, M De Vincentiis, A Corsi, A Greco, G Magliulo
A 24-year-old man was admitted to our Otolaryngology Department following a head and neck CT scan performed for cranial trauma that showed a bulky neoformation in the right parapharyngeal space. Magnetic resonance imaging confirmed the presence of an oval formation with sharp margins and colliquative areas of necrosis involving the right parapharyngeal space. The mass was completely excised by a latero-cervical approach. Based on histological features and immunohistochemical analysis, a diagnosis of embryonal rhabdomyosarcoma of the parapharyngeal space was made...
May 22, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28524158/sequencing-of-dicer1-in-sarcomas-identifies-biallelic-somatic-dicer1-mutations-in-an-adult-onset-embryonal-rhabdomyosarcoma
#7
Leanne de Kock, Barbara Rivera, Timothée Revil, Paul Thorner, Catherine Goudie, Dorothée Bouron-Dal Soglio, Catherine S Choong, John R Priest, Paul J van Diest, Jantima Tanboon, Anja Wagner, Jiannis Ragoussis, Peter Fm Choong, William D Foulkes
BACKGROUND: Sarcomas are rare and heterogeneous cancers. We assessed the contribution of DICER1 mutations to sarcoma development. METHODS: The coding region of DICER1 was sequenced in 67 sarcomas using a custom Fluidigm Access Array. The RNase III domains were Sanger sequenced in six additional sarcomas to identify hotspot DICER1 variants. RESULTS: The median age of sarcoma diagnosis was 45.7 years (range: 3 months to 87.4 years). A recurrent embryonal rhabdomyosarcoma (ERMS) of the broad ligament, first diagnosed at age 23 years, harboured biallelic pathogenic somatic DICER1 variants (1 truncating and 1 RNase IIIb missense)...
June 6, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28466407/rhabdomyosarcoma-spindle-cell-sclerosing-variant-a-clinical-and-histopathological-examination-of-this-rare-variant-with-three-new-cases-from-the-oral-cavity
#8
Molly Housley Smith, Daniel Atherton, John D Reith, Nadim M Islam, Indraneel Bhattacharyya, Donald M Cohen
Spindle cell/sclerosing rhabdomyosarcoma (S-ScRMS) was recently recognized in 2013 by the World Health Organization (WHO) as a stand-alone entity (Parham et al., WHO classification of tumours of soft tissue and bone, IARC Press, Lyon, 2013). Historically, the spindle cell and sclerosing variants were subcategorized under embryonal type rhabdomyosarcoma. Current data supports that certain S-ScRMS cases have a more aggressive clinical course with reduction of long-term survival, and those found in the head and neck region often exhibit extensive local recurrence...
May 2, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28446439/pax3-foxo1-establishes-myogenic-super-enhancers-and-confers-bet-bromodomain-vulnerability
#9
Berkley E Gryder, Marielle E Yohe, Hsien-Chao Chou, Xiaohu Zhang, Joana Marques, Marco Wachtel, Beat Schaefer, Nirmalya Sen, Young K Song, Alberto Gualtieri, Silvia Pomella, Rossella Rota, Abigail Cleveland, Xinyu Wen, Sivasish Sindiri, Jun S Wei, Frederic G Barr, Sudipto Das, Thorkell Andresson, Rajarshi Guha, Madhu Lal-Nag, Marc Ferrer, Jack F Shern, Keji Zhao, Craig J Thomas, Javed Khan
Alveolar rhabdomyosarcoma is a life-threatening myogenic cancer of children and adolescent young adults, driven primarily by the chimeric transcription factor PAX3-FOXO1 (P3F). The mechanisms by which P3F dysregulates chromatin are unknown. We find P3F reprograms the cis-regulatory landscape by inducing (de novo) super enhancers (SEs). P3F uses SEs to setup auto-regulatory loops in collaboration with master transcription factors MYOG, MYOD and MYCN. This myogenic SE circuitry is consistent across cell lines and primary tumors...
April 26, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28427078/a-case-of-adult-metastatic-rhabdomyosarcoma-of-the-prostate-cured-by-long-term-chemotherapy-with-local-radiation
#10
Masato Konno, Koji Mitsuzuka, Shigeyuki Yamada, Shinichi Yamashita, Yasuhiro Kaiho, Akihiro Ito, Mika Watanabe, Yoichi Arai
A 32-year-old man visited our hospital due to urinary retention. Prostate-specific antigen was 13.7 ng/mL. Imaging examinations showed a large prostatic tumor and lung and internal iliac lymph node metastases. Transrectal biopsy confirmed embryonal rhabdomyosarcoma of the prostate classified as cT2bN1M1 (stage IV) by the International Rhabdomyosarcoma Study (IRS) Group staging system. Systemic chemotherapy was started according to the IRS III regimen 36, which consisted of 16 weeks of induction chemotherapy with radiation...
April 21, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/28407197/autologous-hematopoietic-stem-cell-transplantation-following-high-dose-chemotherapy-for-nonrhabdomyosarcoma-soft-tissue-sarcomas
#11
REVIEW
Frank Peinemann, Heike Enk, Lesley A Smith
BACKGROUND: Soft tissue sarcomas (STS) are a highly heterogeneous group of rare malignant solid tumors. Nonrhabdomyosarcoma soft tissue sarcomas (NRSTS) comprise all STS except rhabdomyosarcoma. In people with advanced local or metastatic disease, autologous hematopoietic stem cell transplantation (HSCT) applied after high-dose chemotherapy (HDCT) is a planned rescue therapy for HDCT-related severe hematologic toxicity. The rationale for this update is to determine whether any randomized controlled trials (RCTs) have been conducted and to clarify whether HDCT followed by autologous HSCT has a survival advantage...
April 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28388581/temozolomide-combined-with-irinotecan-caused-regression-in-an-adult-pleomorphic-rhabdomyosarcoma-patient-derived-orthotopic-xenograft-pdox-nude-mouse-model
#12
Kentaro Igarashi, Kei Kawaguchi, Tasuku Kiyuna, Takashi Murakami, Shinji Miwa, Scott D Nelson, Sarah M Dry, Yunfeng Li, Arun S Singh, Hiroaki Kimura, Katsuhiro Hayashi, Norio Yamamoto, Hiroyuki Tsuchiya, Fritz C Eilber, Robert M Hoffman
Adult pleomorphic rhabdomyosarcoma (RMS) is a rare and recalcitrant, highly-malignant mesenchymal tumor in need of improved therapeutic strategies. Our laboratory pioneered the patient-derived orthotopic xenograft (PDOX) nude mouse model with the technique of surgical orthotopic implantation (SOI). We previously described the development of a PDOX model of adult pleomorphic RMS where the tumor behaved similar to the patient donor. A high-grade pleomorphic rhabdomyosarcoma from a striated muscle was previously grown orthotopically in the right biceps-femoris muscle of nude mice to establish the PDOX model...
March 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28367175/analysis-of-orbital-malignancies-presenting-in-a-tertiary-care-hospital-in-pakistan
#13
Asad Aslam Khan, Suhail Sarwar, Mohammad Ali A Sadiq, Imran Ahmad, Nayab Tariq, Sibghat-Ul-Noor
OBJECTIVE: To determine the frequencies of various orbital malignancies amongst orbital lesions in patients presenting in a tertiary care hospital in Pakistan. METHODS: A retrospective analysis of 666 orbital cases with an established histopathological diagnosis of malignant tumors treated in Mayo Hospital Lahore from 1996 to 2015 (20 years). RESULTS: About 66% of the malignant tumors were primary, 25% secondary, 8% haematopoietic and 1% metastatic...
January 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28356215/successful-treatment-of-adult-pleomorphic-rhabdomyosarcoma-with-bone-invasion-in-the-lower-leg-by-chemotherapy-and-biological-reconstruction-a-case-report
#14
Atsushi Tanaka, Yasuo Yoshimura, Takashige Momose, Ken'ichi Isobe, Kaoru Aoki, Munehisa Kito, Masanori Okamoto, Shuichiro Suzuki, Kenji Sano, Hiroyuki Kato
No abstract text is available yet for this article.
March 26, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28273971/clinico-pathological-spectrum-of-ophthalmic-lesions-an-experience-in-tertiary-care-hospital-of-central-india
#15
Yashita Gupta, Renuka Gahine, Nighat Hussain, Mohd Jafar Memon
INTRODUCTION: Ophthalmic lesions show varied distribution on the basis of geographical location. Eye being a unique sensory organ needs to be studied both clinically and pathologically. AIM: This study was aimed to evaluate the histomorphological and clinico-pathlological spectrum of ophthalmic lesions at a tertiary care hospital of Central India. MATERIALS AND METHODS: We reviewed all the ophthalmic biopsies performed in the Department of Pathology of our institute between January 2008 and November 2014...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28271871/soft-tissue-sarcomas-in-adolescents-and-young-adults-a-comparison-with-their-paediatric-and-adult-counterparts
#16
REVIEW
Winette T A van der Graaf, Daniel Orbach, Ian R Judson, Andrea Ferrari
Survival outcomes for adolescent and young adult patients with soft tissue sarcomas lag behind those of children diagnosed with histologically similar tumours. To help understand these differences in outcomes, we discuss the following issues with regard to the management of these patients with soft tissue sarcomas: delays in diagnosis, trial availability and participation, aspects of the organisation of care (with an emphasis on age-specific needs), national centralisation of sarcoma care, international consortia, and factors related to tumour biology...
March 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28243595/cns-metastases-from-bone-and-soft-tissue-sarcomas-in-children-adolescents-and-young-adults-are-they-really-so-rare
#17
Monika Bekiesinska-Figatowska, Agnieszka Duczkowska, Marek Duczkowski, Hanna Bragoszewska, Anna Romaniuk-Doroszewska, Beata Iwanowska, Sylwia Szkudlinska-Pawlak, Jaroslaw Madzik, Katarzyna Bilska, Anna Raciborska
Purpose. To check whether primary involvement of brain/spinal cord by bone/soft tissue sarcomas' metastases in children is as rare as described and to present various morphological forms of bone/soft tissue sarcomas' CNS metastases. Methods. Patients with first diagnosis in 1999-2014 treated at single center were included with whole course of disease evaluation. Brain/spinal canal magnetic resonance imaging (MRI)/computed tomography were performed in cases suspicious for CNS metastases. Extension from skull/vertebral column metastases was excluded...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28222777/identification-of-somatic-and-germ-line-dicer1-mutations-in-pleuropulmonary-blastoma-cystic-nephroma-and-rhabdomyosarcoma-tumors-within-a-dicer1-syndrome-pedigree
#18
Lorena Fernández-Martínez, José Antonio Villegas, Íñigo Santamaría, Ana S Pitiot, Marta G Alvarado, Soledad Fernández, Héctor Torres, Ángeles Paredes, Pilar Blay, Milagros Balbín
BACKGROUND: DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. METHODS: Germ-line mutation screening of the complete coding region of the DICER1 gene in genomic DNA from the proband was performed. The presence of somatic DICER1 mutation and further alterations in driver genes was investigated in genomic DNA obtained from available tumor samples...
February 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28211476/novel-roles-for-staufen1-in-embryonal-and-alveolar-rhabdomyosarcoma-via-c-myc-dependent-and-independent-events
#19
Tara E Crawford Parks, Kristen A Marcellus, Jonathan Langill, Aymeric Ravel-Chapuis, Jean Michaud, Kyle N Cowan, Jocelyn Côté, Bernard J Jasmin
Rhabdomyosarcoma is the most common soft tissue sarcoma in children and young adults. Rhabdomyosarcomas are skeletal muscle-like tumours that typically arise in muscle beds, and express key myogenic regulatory factors. However, their developmental program remains blocked in the proliferative phase with cells unable to exit the cell cycle to fuse into myotubes. Recently, we uncovered a key role for the RNA-binding protein Staufen1 during myogenic differentiation through the regulation of c-myc translation. Given the known implication of c-myc in rhabdomyosarcoma, we hypothesized in the current work that Staufen1 controls rhabdomyosarcoma tumorigenesis...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28194276/a-case-report-of-concurrent-embryonal-rhabdomyosarcoma-and-diffuse-large-b-cell-lymphoma-in-an-adult-without-identifiable-cancer-predisposition
#20
M D Mathias, M V Ortiz, H Magnan, S R Ambati, E K Slotkin, A J Chou, M F Walsh, K Offit, C Moskowitz, A Kentsis, L H Wexler
BACKGROUND: Diffuse large B-cell lymphoma (DLBCL) is the most common form of non-Hodgkin lymphoma. Rhabdomyosarcoma, the most common soft tissue sarcoma of childhood. makes up less than 1% of solid malignancies in adults with around 400 new cases each year in the United States. They have not previously been reported concurrently. CASE PRESENTATION: A 37 year old woman presented with painful enlarging leg mass. Biopsy of the mass was consistent with embryonal rhabdomyosarcoma...
2017: Biomarker Research
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