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https://www.readbyqxmd.com/read/28817827/role-of-next-generation-sequencing-as-a-diagnostic-tool-for-the-evaluation-of-bone-and-soft-tissue-tumors
#1
Kinga Szurian, Karl Kashofer, Bernadette Liegl-Atzwanger
Bone and soft-tissue tumors are in general rare. Diagnosing these tumors is challenging based on the significant number of different tumor entities, the rareness of these tumors, and the considerable morphological heterogeneity which can be found within a single tumor entity. Considering that more than half of the described soft-tissue tumors and approximately 25% of the bone tumors harbor recurrent genetic alterations, the use of auxiliary molecular examinations should be strongly considered. Molecular analyses are important to confirm the diagnosis, to guide treatment, to provide information about prognosis, and to allow patient recruitment for basket trials based on the molecular signature of a tumor...
August 18, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28812461/soft-tissue-perineurioma-in-a-child-with-neurofibromatosis-type-1-a-case-report-and-review-of-the-literature
#2
Mudher Al-Adnani
Soft tissue perineurioma is a rare benign peripheral nerve sheath tumor, especially in children. This manuscript presents an unusual case of soft tissue perineurioma in a 10-year-old boy with neurofibromatosis type 1. The patient presented with a lump in the region of the right breast. A subcutaneous, well circumscribed mass was removed. The cut surface was cream with a vaguely nodular appearance. Histology showed a spindle cell lesion with variable architecture and biphasic morphology. There was no nuclear atypia or pleomorphism...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28810297/-clinical-and-pathologic-features-of-extrapleural-sarcomatoid-mesothelioma
#3
M C Wei, S J Yang
Objective: To investigate the morphological features, diagnosis and differential diagnosis of extrapleural sarcomatoid malignant mesothelioma (SMM). Methods: Six cases of extrapleural SMM were evaluated for their clinical, histological, immunohistochemical features, and prognosis. Results: Patients included 3 men and 3 women, with a median age of 60 years (range 41-75 years). All patients had no asbestos exposure in history and no pleural lesions. The tumors involved peritoneum (3 cases), bone (2 cases), and neck soft tissue (1 case)...
August 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28802505/soft-tissue-tumors-of-uncertain-histogenesis-a-review-for-dermatopathologists
#4
REVIEW
Darya Buehler, Paul Weisman
The mesenchymal tumors discussed herein represent a heterogeneous group of neoplasms with distinctive morphologic, immunophenotypic, and molecular genetic features. These uncommon tumors often arise in the dermis and subcutis and can pose a major diagnostic challenge to dermatopathologists because they closely mimic melanoma, carcinoma, fibrous histiocytoma, schwannoma, or granulomatous inflammation. This article reviews the clinical presentation, histopathology, differential diagnosis, and diagnostic pitfalls of epithelioid sarcoma, clear cell sarcoma, perivascular epithelioid cell tumor, ossifying fibromyxoid tumor, pleomorphic hyalinizing angiectatic tumor, and hemosiderotic fibrolipomatous tumor...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28802504/cutaneous-malignant-vascular-neoplasms
#5
REVIEW
Wonwoo Shon, Steven D Billings
Accurate diagnosis of cutaneous malignant vascular tumors, including angiosarcoma and epithelioid hemangioendothelioma, is critical for determination of appropriate clinical management and prognosis. Although there have been significant advances in understanding genetic aspects of cutaneous vascular biology, differential diagnosis of malignant vascular tumor involving skin and superficial soft tissue is a frequent source of difficulty. This brief overview highlights the clinicopathologic features of primary and secondary cutaneous angiosarcoma and epithelioid hemangioendothelioma and also provides a short summary of newer molecular data...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28777494/clinico-radiological-features-and-next-generation-sequencing-of-pulmonary-epithelioid-hemangioendothelioma-a-case-report-and-review-of-literature
#6
Xiaoyong Mao, Zibin Liang, Fidelis Chibhabha, Wei Ou, Ning Li, Pengfei Xu, Siyu Wang
Epithelioid hemangioendothelioma is a very rare, vascular, low-grade malignant tumor found in the lungs, liver, bone, and other soft tissues. Most patients with pulmonary epithelioid hemangioendothelioma (PEH) are asymptomatic but usually present with multiple bilateral nodular lesions in the lungs. Currently, surgical lung biopsy, histology, and immunohistochemical methods are essential for diagnosis. However, there is no standard therapy for the treatment for PEH. Our paper describes the clinico-radiologic features and genomics of PEH based on next-generation sequencing (NGS) in a 43-year-old male we encountered...
August 4, 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28777147/ttf-1-positive-metastatic-endometrioid-carcinoma-a-case-report-and-review-of-literature-of-a-potential-diagnostic-pitfall
#7
François Casteillo, Pierre Fournel, Vanessa Da Cruz, Georgia Karpathiou, Claire Boutet, Jean-Philippe Jacquin, Claire Tissot, Vincent Meyer-Bisch, Michel Péoc'h, Fabien Forest
A 75-year-old female patient, nonsmoker was addressed to our institution for a fracture of C5 vertebra with spinal cord compression by a tumor mass invading surrounding soft tissue. She had a previous history of breast ductal carcinoma and endometrioid carcinoma. Biopsy of the tumor mass showed a TTF-1-positive carcinoma. Molecular study showed a E545K mutation of PIK3CA. Lung imaging showed multiple nodules evocative of metastasis rather than a primitive tumor. Reviewing of slides of endometrioid carcinoma showed areas positive for TTF1, and the same E545K mutation was found in endometrial tumor...
August 2, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28770159/peripheral-odontogenic-myxoma-in-a-12-year-old-girl-a-rare-entity
#8
Sampada Kanitkar, Mamata Kamat, Sridevi Tamagond, Aniruddha Varekar, Uma Datar
Peripheral odontogenic myxoma is a rare odontogenic tumor representing an extra osseous counterpart of central odontogenic myxoma. It is commonly seen in gingiva between the 3rd and 4th decades of life and appears predominantly in females. Compared to central odontogenic myxoma, it is a less aggressive, slow-growing lesion with a low recurrence rate. However, close postoperative follow-up is required because of the unlimited growth potential of incompletely removed lesions. It shares many features with other soft tissue myxoid proliferations occurring in the oral cavity and hence needs to be differentiated from them...
June 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/28768937/definitive-surgical-treatment-of-osteomalacia-induced-by-skull-base-tumor-and-determination-of-the-half-life-of-serum-fibroblast-growth-factor-23
#9
Taijun Hana, Shota Tanaka, Hirofumi Nakatomi, Masaaki Shojima, Seiji Fukumoto, Masako Ikemura, Nobuhito Saito
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome often associated with fibroblast growth factor 23 (FGF23)-producing tumors such as phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT) affecting the bone and soft tissue. We experienced a patient with progressive bone and muscle pain due to FGF23-related TIO. Venous sampling had strongly suggested the anterior skull base as a source of FGF23, which led to the discovery of a small tumor in the ethmoid sinus extending intracranially...
August 2, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28762137/a-clinicopathologic-study-of-head-and-neck-malignant-peripheral-nerve-sheath-tumors
#10
Adepitan A Owosho, Cherry L Estilo, Joseph M Huryn, Ping Chi, Cristina R Antonescu
Head and neck high grade malignant peripheral nerve sheath tumors (HN-MPNSTs) are rare highly aggressive soft tissue sarcomas that show overlapping morphologic and immunophenotypic features with melanoma and other high grade sarcomas, resulting in diagnostic challenges, particularly in sporadic settings. Recent discoveries have implicated loss of function mutations in the polycomb repressive complex 2 (PRC2) components, including EED or SUZ12 genes, as one of the leading pathogenetic mechanisms in high grade MPNST...
July 31, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28761507/primary-intracranial-dural-based-ewing-sarcoma-peripheral-primitive-neuroectodermal-tumor-mimicking-a-meningioma-a-rare-tumor-with-review-of-literature
#11
REVIEW
Vikul Kumar, Anshu Singh, Vivek Sharma, Mohan Kumar
Ewing sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) is a malignant small, round cell tumor arising from bone and soft tissue in children and young adults. It can occur at osseous and extraosseous sites. Its usual locations are diaphysis of long bones followed by pelvis, ribs, vertebrae, and rarely skull. We reviewed the literature and PubMed advanced search on ES/pPNET occurring at extraosseous sites, mainly involving the central nervous system (CNS). We reported a case of a 22-year-old male presenting with seizure finally diagnosed as a case of ES/pPNET...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28761209/extranodal-non-hodgkin-s-lymphoma-of-the-oral-cavity-a-case-report
#12
Babyamma Raghavan Varun, Nettiyat Oommen Varghese, Trivandrum Thanappan Sivakumar, Anna Palliath Joseph
Lymphomas are solid malignant tumors having a wide spectrum of clinical and pathological features. Non-Hodgkin's lymphoma (NHL) is a subtype of lymphoma with two-thirds of the cases presenting as lymph node enlargement. The remaining one third of NHL cases has been reported in the extranodal sites, including the gastro intestinal tract, Waldeyer's ring, bone, skin, and brain. Intraoral non-Hodgkin's lymphoma is uncommon and may affect either the jaw bones or occur within the soft tissues of the oral cavity...
July 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28757870/peripheral-exophytic-oral-lesions-a-clinical-decision-tree
#13
REVIEW
Hamed Mortazavi, Yaser Safi, Maryam Baharvand, Somayeh Rahmani, Soudeh Jafari
Diagnosis of peripheral oral exophytic lesions might be quite challenging. This review article aimed to introduce a decision tree for oral exophytic lesions according to their clinical features. General search engines and specialized databases including PubMed, PubMed Central, Medline Plus, EBSCO, Science Direct, Scopus, Embase, and authenticated textbooks were used to find relevant topics by means of keywords such as "oral soft tissue lesion," "oral tumor like lesion," "oral mucosal enlargement," and "oral exophytic lesion...
2017: International Journal of Dentistry
https://www.readbyqxmd.com/read/28756986/extraskeletal-aneurysmal-bone-cyst-report-of-a-case-and-review-of-the-literature
#14
Liurka V Lopez, Michael G Rodriguez, Gene P Siegal, Shi Wei
Aneurysmal bone cyst (ABC) is an expansile cystic lesion that may affect any bone of the skeleton. Although exceedingly rare, lesions with histomorphologic characteristics of an ABC have reportedly originated within soft tissue. Extraskeletal ABC may mimic a variety of benign and malignant lesions and can be confused with other more common or rare giant cell-rich tumors of soft tissue, especially myositis ossificans. Clinical, radiological and histologic correlation is crucial in reaching the correct diagnosis...
July 6, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28756566/pten-hamartoma-of-the-soft-tissue-the-initial-manifestation-of-an-underlying-pten-hamartoma-tumor-syndrome-in-a-4-year-old-female
#15
Charles B Chism, Lindsay Crawford, Amanda Tchakarov, Alyaa Al-Ibraheemi, Nicholas M Beckmann
A 4-year-old female was referred to pediatric orthopedic surgery for left leg pain and limping for 3 months following a motor vehicle collision. Recently, the patient's mother had noted left knee swelling and dragging of the left leg when walking. Past medical history was significant for hip dysplasia with slight leg length discrepancy. The patient was otherwise healthy. Physical examination was remarkable for left pre-patellar soft tissue fullness with normal range of motion. There was no warmth or tenderness...
July 29, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28753220/a-novel-method-for-rapid-and-quantitative-mechanical-assessment-of-soft-tissue-for-diagnostic-purposes-a-computational-study
#16
Javier Palacio-Torralba, Daniel W Good, Grant D Stewart, S Alan McNeill, Robert L Reuben, Yuhang Chen
Biological tissues often experience drastic changes in their microstructure due to their pathophysiological conditions. Such microstructural changes could result in variations in mechanical properties, which can be used in diagnosing or monitoring a wide range of diseases, most notably cancer. This paves the avenue for non-invasive diagnosis by instrumented palpation although challenges remain in quantitatively assessing the amount of diseased tissue by means of mechanical characterization. This paper presents a framework for tissue diagnosis using a quantitative and efficient estimation of the fractions of cancerous and non-cancerous tissue without a priori knowledge of tissue microstructure...
July 28, 2017: International Journal for Numerical Methods in Biomedical Engineering
https://www.readbyqxmd.com/read/28748349/desmoplastic-small-round-cell-tumor-evaluation-of-reverse-transcription-polymerase-chain-reaction-and-fluorescence-in-situ-hybridization-as-ancillary-molecular-diagnostic-techniques
#17
Mustafa Mohamed, David Gonzalez, Karen J Fritchie, John Swansbury, Dorte Wren, Charlotte Benson, Robin L Jones, Cyril Fisher, Khin Thway
Desmoplastic small round cell tumor (DSRCT) is a rare, biologically aggressive soft tissue neoplasm of uncertain differentiation, most often arising in the abdominal and pelvic cavities of adolescents and young adults with a striking male predominance. Histologically, it is characterized by islands of uniform small round cells in prominent desmoplastic stroma, and it has a polyimmunophenotypic profile, typically expressing WT1 and cytokeratin, desmin, and neural/neuroendocrine differentiation markers to varying degrees...
July 26, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28747182/recurrent-primary-mediastinal-giant-cell-tumor-of-soft-tissue-with-radiological-findings-a-rare-case-report-and-literature-review
#18
Qiongjie Hu, Jian Peng, Liming Xia
BACKGROUND: Giant cell tumor of soft tissue (GCT-ST), which histologically resembles GCT of bone, is a rare tumor. Usually, it is located in the lower extremities and trunk. GCT-ST, occurring in mediastinum, is extremely rare. CASE PRESENTATION: We encountered an 18-year-old Chinese woman who had mild dull pain on the left side of back. The following chest computed tomography (CT) showed a heterogeneous mass deeply situated in the posterior mediastinum with compression of the lung and invasion of the adjacent rib...
July 26, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28745570/soft-tissue-tumor-immunohistochemistry-update-illustrative-examples-of-diagnostic-pearls-to-avoid-pitfalls
#19
Shi Wei, Evita Henderson-Jackson, Xiaohua Qian, Marilyn M Bui
CONTEXT: - Current 2013 World Health Organization classification of tumors of soft tissue arranges these tumors into 12 groups according to their histogenesis. Tumor behavior is classified as benign, intermediate (locally aggressive), intermediate (rarely metastasizing), and malignant. In our practice, a general approach to reaching a definitive diagnosis of soft tissue tumors is to first evaluate clinicoradiologic, histomorphologic, and cytomorphologic features of the tumor to generate some pertinent differential diagnoses...
August 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28744074/multimodality-imaging-of-vaginal-rhabdomyosarcoma
#20
Richa S Chauhan, Dheeraj K Singh, Bishwarup Guha, Ishan Kumar, Ashish Verma
Rhabdomyosarcoma (RMS) is a malignant mesenchymal tumor arising from the embryonal muscle cells (rhabdomyoblasts), and is the most common soft tissue sarcoma in children and young adults accounting for 4-6% of all malignancies in this age group. Though rare overall, embryonal rhabdomyosarcoma is the most common malignancy arising in the pediatric female genitourinary tract with sarcoma botryoides being the most common variant of the tumor. In young and adolescent individuals, the cervix and uterus are affected; whereas in infants, vaginal lesions are more common...
April 2017: Indian Journal of Radiology & Imaging
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