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Epithelioid sarcoma

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https://www.readbyqxmd.com/read/29761250/sarcoma-in-neurofibromatosis-2-case-report-and-review-of-the-literature
#1
C Linder, M J Smith, M Bulman, A Wallace, A J Freemont, D C Mangham, D G R Evans
Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell content with little associated matrix and inconclusive immunochemistry. Genetic analysis of a schwannoma and matched blood samples demonstrated a constitutional de novo substitution at the splice donor site of intron 8 of the NF2 gene and aa acquired large deletion of the entire NF2 gene as a second hit, with some loss of SMARCB1...
May 14, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29759015/morphologic-and-immunohistochemical-characteristics-of-anorectal-melanoma
#2
Ahmad Charifa, Xuchen Zhang
Anorectal melanoma is a rare aggressive disease. Due to its rarity and considerable histologic and immunohistochemical variabilities, misdiagnosis as lymphoma, carcinoma, sarcoma, and/or gastrointestinal stromal tumor is not uncommon, particularly in amelanotic cases. We reviewed histologic features and immunohistochemical stains of 19 anorectal melanoma cases. Histopathologic features were evaluated including junctional activity, melanin pigment, and morphologic features. Immunohistochemical stains were performed using Sox10, S100 protein, HMB-45, melan-A, CD56, and cytokeratins...
May 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29756323/primary-mediastinal-histiocytic-sarcoma-presenting-as-pleural-effusion
#3
Jie-Yang Jhuang, Wei-Yu Chen, Shih-Sung Chuang
Histiocytic sarcoma (HS) is a rare malignant neoplasm showing morphological and immunophenotypic features of mature tissue histiocytes. As HS may mimic non-Hodgkin lymphoma (NHL) pathologically, before the era of immunohistochemistry, many previously reported cases were misdiagnosed NHL. Up to date, there are only a few reports delineating the cytological features in fine-needle aspiration or bronchoalveolar lavage, but not in the effusion fluid yet. Herein, we report the case of a 61-year-old male with a mediastinal tumor presenting with malignant pleural effusion...
May 13, 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29747250/-rare-primary-proximal-epithelioid-sarcoma-in-skull-base-clinical-analysis-of-four-cases
#4
Z J Duan, K Yao, Y M Qu, M Ren, Y L Zhang, X L Qi
Objective: To report the clinical and pathological features of primary proximal epithelioid sarcoma (PES) in skull base. Methods: The clinical and pathological features of four cases of PES in skull base from Sanbo Brain Institute of Capital Medical University and Kunming Sanbo Brain Institute were analysed retrospectively. Results: Three cases was female, and one male, the age ranged from 46 to 52 years.All cases occurred in skull base, and sellar region was the main site of involvement.Under the microscope, the tumor cells characterized by epithelioid cell changes, with or without rhabdoid tumor cells...
April 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29700887/cic-nutm1-fusion-a-case-which-expands-the-spectrum-of-nut-rearranged-epithelioid-malignancies
#5
Inga-Marie Schaefer, Paola Dal Cin, Christopher D M Fletcher, Glenn J Hanna, Christopher A French
NUT carcinoma (NC) shows very aggressive clinical behavior, occurs predominantly in the thorax and head and neck region of children and adults, and is defined by the presence of NUT (aka NUTM1) rearrangement, mostly BRD4-NUTM1 fusion resulting from t(15;19)(q13, p13.1). So-called "NUT variants" harbor alternate fusions between NUTM1 and BRD3, NSD3, ZNF532, or unknown partners. Rare cases of pediatric tumors with CIC-NUTM1 fusion were recently reported in somatic soft tissue, brain, and kidney. However, such cases have not been identified in adult patients and the presence of a fusion between CIC, characteristic of CIC-rearranged sarcoma, and NUTM1, a defining feature of NC - poses a diagnostic challenge...
April 26, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29700418/smarca4-deficient-undifferentiated-uterine-sarcoma-malignant-rhabdoid-tumor-of-the-uterus-a-clinicopathologic-entity-distinct-from-undifferentiated-carcinoma
#6
David L Kolin, Fei Dong, Michele Baltay, Neal Lindeman, Laura MacConaill, Marisa R Nucci, Christopher P Crum, Brooke E Howitt
Small cell carcinoma of the ovary, hypercalcemic type is a rare, aggressive malignancy which usually occurs in young women and is characterized by mutations in SMARCA4, with few other alterations. We recently encountered uterine tumors with morphologic, immunohistochemical, and genetic similarities to small cell carcinoma of the ovary, hypercalcemic type. Herein we report the clinicopathologic and molecular features (using a targeted massively parallel sequencing [MPS] assay) of these tumors. The cases were diagnosed on cervical and endometrial biopsies (n = 2, 34, and 29 years) or hysterectomy and bilateral salpingo-oophorectomy (n = 3, 25, 33, and 58 years)...
April 26, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29690962/effectiveness-of-vascular-markers-immunohistochemical-stains-in-soft-tissue-sarcomas
#7
Namra Naeem, Sajid Mushtaq, Noreen Akhter, Mudassar Hussain, Usman Hassan
OBJECTIVE: To ascertain the effectiveness of IHC markers of vascular origin like CD31, CD34, FLI1 and ERG in vascular soft tissue sarcomas including angiosarcomas, Kaposi sarcomas, epithelioid hemangioendothelioma and a non-vascular soft tissue sarcoma (Epithelioid sarcoma). STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, from 2011 to 2017. METHODOLOGY: Diagnosed cases of angiosarcomas (n=48), epithelioid hemangioendothelioma (n=9), Kaposi sarcoma (n=9) and epithelioid sarcoma (n=20) were selected...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29683530/proximal-type-epithelioid-sarcoma-of-vulva-cytopathological-diagnosis-of-a-rare-neoplasm
#8
Archana Sundaram, Arun Elangovan, Arvind Rajwanshi, Radhika Srinivasan, Rakesh Kapoor
Proximal-type epithelioid sarcoma (PES) is a rare malignant mesenchymal tumour of unknown origin and histogenesis. The exact worldwide incidence is also not reported. Clinically, these tumours commonly present as vague masses involving the deeper soft tissues of proximal sites1 . PES has gained importance recently since it is recognized as a distinct entity with characteristic morphology, immunochemical findings and worse clinical outcomes. This article is protected by copyright. All rights reserved.
April 23, 2018: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/29660143/disseminated-kaposi-sarcoma-with-epithelioid-morphology-in-an-hiv-aids-patient-a-previously-unreported-variant
#9
Pukhraz Basra, Juan Paramo, John Alexis
Kaposi sarcoma is an oligoclonal HHV8-driven vascular proliferation that was first described in 1872 as an "idiopathic multiple pigmented sarcoma of the skin" by a Viennese dermatologist Dr. Moriz Kaposi (1).
April 16, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29650362/tazemetostat-an-ezh2-inhibitor-in-relapsed-or-refractory-b-cell-non-hodgkin-lymphoma-and-advanced-solid-tumours-a-first-in-human-open-label-phase-1-study
#10
Antoine Italiano, Jean-Charles Soria, Maud Toulmonde, Jean-Marie Michot, Carlo Lucchesi, Andrea Varga, Jean-Michel Coindre, Stephen J Blakemore, Alicia Clawson, Benjamin Suttle, Alice A McDonald, Mark Woodruff, Scott Ribich, Eric Hedrick, Heike Keilhack, Blythe Thomson, Takashi Owa, Robert A Copeland, Peter T C Ho, Vincent Ribrag
BACKGROUND: Activating enhancer of zeste homolog 2 (EZH2) mutations or aberrations of the switch/sucrose non-fermentable (SWI/SNF) complex (eg, mutations or deletions of the subunits INI1 or SMARCA4) can lead to aberrant histone methylation, oncogenic transformation, and a proliferative dependency on EZH2 activity. In this first-in-human study, we aimed to investigate the safety, clinical activity, pharmacokinetics, and pharmacodynamics of tazemetostat, a first-in-class selective inhibitor of EZH2...
April 9, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29626598/ewsr1-nfatc2-gene-fusion-in-a-soft-tissue-tumor-with-epithelioid-round-cell-morphology-and-abundant-stroma-a-case-report-and-review-of-the-literature
#11
Jarish N Cohen, Amit J Sabnis, Gregor Krings, Soo-Jin Cho, Andrew E Horvai, Jessica L Davis
Mesenchymal round cell tumors are a diverse group of neoplasms defined by primitive, often high-grade cytomorphology. The most common molecular alterations detected in these tumors are gene rearrangements involving EWSR1 to one of many fusion partners. Rare EWSR1-NFATC2 gene rearrangements, corresponding to a t(20;22) gene translocation, have been described in mesenchymal tumors with clear round cell morphology and a predilection for the skeleton. We present a case of a tumor harboring the EWSR1-NFATC2 gene fusion arising in the subcutaneous tissue of a young woman...
April 4, 2018: Human Pathology
https://www.readbyqxmd.com/read/29623737/epithelioid-inflammatory-myofibroblastic-sarcoma
#12
Magnus Hallin, Khin Thway
No abstract text is available yet for this article.
April 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29621181/dabrafenib-treatment-in-a-patient-with-an-epithelioid-glioblastoma-and-braf-v600e-mutation
#13
Garry Ceccon, Jan-Michael Werner, Veronika Dunkl, Caroline Tscherpel, Gabriele Stoffels, Anna Brunn, Martina Deckert, Gereon R Fink, Norbert Galldiks
Novel therapeutic targets in malignant glioma patients are urgently needed. Point mutations of the v-Raf murine sarcoma viral oncogene homolog B ( BRAF ) gene occur predominantly in melanoma patients, but may also occur in gliomas. Thus, this is a target of great interest for this group of patients. In a nine-year-old male patient, an anaplastic astrocytoma in the left temporoparietal region was diagnosed histologically. After first- and second-line treatment, a malignant progression to a secondary glioblastoma was observed ten years after the initial diagnosis...
April 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29602652/intramuscular-epithelioid-sarcoma-presenting-as-extrinsic-flexor-tightness-in-the-forearm
#14
Yuji Tomori, Ryuji Ohashi, Takuya Sawaizumi, Zenya Naito, Mitsuhiko Nanno, Shinro Takai
Epithelioid sarcoma is an uncommon soft tissue sarcoma involving predominantly the distal extremities of adolescents and young adults. Its rarity makes it difficult to diagnose accurately and treat properly in the early stages. We discuss the delayed diagnosis of a 37-year-old man who presented with extrinsic flexor tightness of the wrist and fingers. We initially thought that the lesion resulted from inflamed soft tissue of the flexor muscles causing contracture. However, histological examination of a biopsy specimen revealed nodular proliferation of epithelioid and spindle cells, which were immunoreactive to epithelial and nonepithelial markers, respectively, leading to the final diagnosis of epithelioid sarcoma...
March 27, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29550245/european-organisation-for-research-and-treatment-of-cancer-soft-tissue-and-bone-sarcoma-group-experience-with-advanced-metastatic-epithelioid-sarcoma-patients-treated-in-prospective-trials-clinical-profile-and-response-to-systemic-therapy
#15
N Touati, P Schöffski, S Litière, I Judson, S Sleijfer, W T van der Graaf, A Italiano, N Isambert, T Gil, J Y Blay, D Stark, T Brodowicz, S Marréaud, A Gronchi
AIMS: Epithelioid sarcoma is a soft tissue sarcoma associated with a high rate of local recurrence after wide resection and high incidence of distant metastasis. Little is known about the clinical course and response to systemic treatments in epithelioid sarcoma patients. We carried out a retrospective analysis of clinical data from epithelioid sarcoma patients to provide a reference for the design of future epithelioid sarcoma-specific studies. PATIENTS AND METHODS: Data from patients with epithelioid sarcoma entered in prospective multi-sarcoma phase II/III trials were pooled: EORTC trial 62012 (doxorubicin versus doxorubicin/ifosfamide), 62043 (pazopanib), 62072 (pazopanib versus placebo) and 62091 (doxorubicin versus trabectedin)...
March 15, 2018: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29546487/epithelioid-hemangioendothelioma-update-on-diagnosis-and-treatment
#16
REVIEW
Ari Rosenberg, Mark Agulnik
Epithelioid hemangioendothelioma (EHE) is an extremely rare sarcoma, as such it can pose a clinical dilemma based solely on its rarity. Also, the spectrum of disease varies greatly between an indolent disease and aggressive disease with widespread metastases. In our clinical practice, the primary focus has been to get a handle on the aggressive nature of the disease, which will then dictate how urgently one needs to treat the patient. Pathological review with immunohistochemistry and molecular characterization is paramount...
March 15, 2018: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/29541222/an-unusual-presentation-of-pneumothorax-associated-with-cystic-lung-metastasis-from-epithelioid-sarcoma-a-case-report-and-review-of-the-literature
#17
Manabu Hoshi, Naoto Oebisu, Tadashi Iwai, Makoto Ieguchi, Yoshitaka Ban, Hiroaki Nakamura
Circumscribed solid nodules are common in pulmonary metastases from sarcoma, but cystic pulmonary metastases from sarcomas are extremely rare. An unusual case of a 33-year-old man presenting with left spontaneous pneumothorax in association with cystic pulmonary metastases from an epithelioid sarcoma in the left forearm was discussed in the present study. The patient underwent wide resection of an epithelioid sarcoma in the left forearm 6 years prior. Periodical computed tomography revealed a gradual increase in the number and size of bilateral multiple cystic pulmonary metastases despite repeated chemotherapy treatment...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29534353/-langerhans-cell-sarcoma-a-clinicopathologic-analysis-of-four-cases
#18
H J Huang, X Y Chen, Z Y Zheng
Objective: To investigate the clinicopathological features, differential diagnosis, and genetic alteration of Langerhans cell sarcoma (LCS). Methods: Four cases of LCS were collected from Fujian Provincial Hospital and Fuzhou General Hospital of Nanjing Military Command of PLA from July 2013 to January 2017. Clinicopathological features and immunophenotype were retrospectively reviewed in four LCS cases combined with genetic mutation analysis of BRAF and ALK. Results: Four cases included 2 women and 2 men with ages from 42 to 79 years (median=59...
March 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29532523/clinicopathological-and-genetic-association-between-epithelioid-glioblastoma-and-pleomorphic-xanthoastrocytoma
#19
Takuya Furuta, Hiroaki Miyoshi, Satoru Komaki, Fumiko Arakawa, Motohiro Morioka, Koichi Ohshima, Mitsutoshi Nakada, Yasuo Sugita
Epithelioid glioblastoma (eGBM) is a rare variant of GBM which was adopted in the 2016 WHO classification. eGBM and pleomorphic xanthoastrocytoma (PXA) sometimes show overlapping features histologically and genetically, such as epithelioid pattern and a highly frequent V600E mutation in the gene for vRAF murine sarcoma viral oncogene homolog B1 (BRAF), respectively. Accurate diagnosis of these rare tumors is challenging according to the new criteria in the revised 2016 WHO classification. It is an urgent task to elucidate the biological properties of the tumors and to select appropriate treatment...
March 13, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29529647/synovial-sarcoma-is-not-associated-with-a-higher-risk-of-lymph-node-metastasis-compared-with-other-soft-tissue-sarcomas
#20
Andrew J Jacobs, Carol D Morris, Adam S Levin
BACKGROUND: Reported rates of the incidence of lymph node metastasis in soft tissue sarcoma vary considerably. Many are based on single-institution series and small patient populations. Certain sarcoma subtypes, including synovial sarcoma, have been associated with a higher risk of lymph node involvement. Most single centers have insufficient numbers of patients to assess lymph node metastasis accurately, but larger national databases may allow a more accurate estimation. QUESTIONS/PURPOSES: We queried a large national database and asked the following questions: (1) What proportion of patients with soft tissue sarcoma have lymph node metastasis and distant metastasis? (2) What histologic subtypes are associated with increased risk of nodal metastasis? (3) What is the impact of lymph node metastases and histologic subtype on survival? (4) Does lymph node excision improve survival of patients with soft tissue sarcoma? METHODS: The National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) Program is a national database that covers a geographic cross-section representing approximately 28% of the US population across demographic groups...
March 2018: Clinical Orthopaedics and related Research
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