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https://www.readbyqxmd.com/read/27914109/bcor-upregulation-in-a-poorly-differentiated-synovial-sarcoma-with-ss18l1-ssx1-fusion-a-pathologic-and-molecular-pitfall
#1
Yu-Chien Kao, Yun-Shao Sung, Lei Zhang, Samuel Kenan, Samuel Singer, William D Tap, David Swanson, Brendan C Dickson, Cristina R Antonescu
The diagnosis of poorly differentiated synovial sarcoma (PD-SS) may be challenging due to overlapping morphologic features with other undifferentiated round cell sarcomas (URCS). Particularly relevant is the histologic overlap and shared BCOR overexpression between a subset of SS and URCS with various BCOR genetic abnormalities. Here we report a case of PD-SS lacking the canonical SS18-SSX gene fusion, but showing strong BCOR immunoreactivity and BCOR gene abnormalities by FISH which were misinterpreted as a URCS with BCOR gene rearrangements...
December 3, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27913780/multifocal-polymorphous-hemangioendothelioma-of-the-liver-case-report-and-review-of-literature
#2
Siba El Hussein, Yumna Omarzai
We report a case of polymorphous hemangioendothelioma, a rare vascular neoplasm, arising in the liver of a 51-year-old woman. Microscopically, this neoplasm is characterized by a polymorphous blend of solid, primitive vascular and angiomatous areas in variable proportions. Polymorphous hemangioendothelioma is considered to be an intermediate-grade vascular neoplasm. In most of the reported cases, its occurrence has been in lymph nodes, but a few cases have been found in extranodal sites such as the mediastinum, spinal cord, and liver...
December 2, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27913051/erg-expression-in-multiple-myeloma-a-potential-diagnostic-pitfall
#3
Juliana Knief, Katharina Reddemann, Jan Gliemroth, Swantje Brede, Tobias Bartscht, Christoph Thorns
INTRODUCTION: ERG expression has been described as a frequent event in prostate cancer indicating poor prognosis and promoting oncogenesis. It has also been demonstrated in Ewing's sarcoma, acute myeloid leukemia and acute T-lymphoblastic leukemia but could not be found in other epithelial tumors, Hodgkin's or Non-Hodgkin's lymphoma. We aimed to analyze ERG expression in multiple myeloma, following an index case of a patient with metastases of unknown origin in the spine strongly expressing ERG, which were thought to be of prostatic origin but turned out to be plasmacytic lesions...
November 3, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27909788/dedifferentiated-liposarcoma-of-the-lower-extremity-with-low-grade-dedifferentiation-and-low-grade-osteosarcomatous-component
#4
Anna K Zajicek, Julia A Bridge, Joshua W Akers, Sean V McGarry, Craig W Walker
Dedifferentiated liposarcoma can arise de novo or as a complication of a preexisting well-differentiated liposarcoma. We describe the radiologic and pathologic features of a long-standing liposarcoma with multiple recurrences in a 59-year-old male. Imaging demonstrated a heterogeneous fat-containing mass in the anterior thigh. The adjacent proximal femur showed irregular cortical new bone, eventually followed by intramedullary osteoblastic involvement and pathologic fracture. Histologic assessment at resection revealed dedifferentiated liposarcoma with low-grade osteosarcomatous component...
December 1, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27908333/pitfalls-in-the-treatment-of-sepsis
#5
REVIEW
Lars-Kristofer N Peterson, Karin Chase
Sepsis is a challenging, dynamic, pathophysiology requiring expertise in diagnosis and management. Controversy exists as to the most sensitive early indicators of sepsis and sepsis severity. Patients presenting to the emergency department often lack complete history or clinical data that would point to optimal management. Awareness of these potential knowledge gaps is important for the emergency provider managing the septic patient. Specific areas of management including the initiation and management of mechanical ventilation, the appropriate disposition of the patient, and consideration of transfer to higher levels of care are reviewed...
February 2017: Emergency Medicine Clinics of North America
https://www.readbyqxmd.com/read/27896744/high-dimensional-profiling-for-computational-diagnosis
#6
Claudio Lottaz, Wolfram Gronwald, Rainer Spang, Julia C Engelmann
New technologies allow for high-dimensional profiling of patients. For instance, genome-wide gene expression analysis in tumors or in blood is feasible with microarrays, if all transcripts are known, or even without this restriction using high-throughput RNA sequencing. Other technologies like NMR finger printing allow for high-dimensional profiling of metabolites in blood or urine. Such technologies for high-dimensional patient profiling represent novel possibilities for molecular diagnostics. In clinical profiling studies, researchers aim to predict disease type, survival, or treatment response for new patients using high-dimensional profiles...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27896385/pictorial-review-the-pearls-and-pitfalls-of-the-radiological-manifestations-of-gallstone-ileus
#7
REVIEW
Phei Shan Chuah, John Curtis, Nikhil Misra, Dina Hikmat, Sumita Chawla
We present a pictorial review of a range of typical and atypical cases of gallstone ileus (GI), across a wide range of imaging modalities. GI is a complication of gallstone disease causing mechanical intestinal obstruction due to impaction of gallstone in the gastrointestinal tract. The spectrum of presentation can vary enormously, and we highlight the importance of accurate imaging diagnosis of GI especially early use of computed tomography. This will lead to timely and appropriate surgical intervention with the potential avoidance of unnecessary outcomes...
November 28, 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/27895404/presepsin-teardown-pitfalls-of-biomarkers-in-the-diagnosis-and-prognosis-of-bacterial-infection-in-cirrhosis
#8
Maria Papp, Tamas Tornai, Zsuzsanna Vitalis, Istvan Tornai, David Tornai, Tamas Dinya, Andrea Sumegi, Peter Antal-Szalmas
AIM: To evaluate the diagnostic and prognostic value of presepsin in cirrhosis-associated bacterial infections. METHODS: Two hundred and sixteen patients with cirrhosis were enrolled. At admission, the presence of bacterial infections and level of plasma presepsin, serum C-reactive protein (CRP) and procalcitonin (PCT) were evaluated. Patients were followed for three months to assess the possible association between presepsin level and short-term mortality. RESULTS: Present 34...
November 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27895166/t-cell-rich-lymphoid-infiltrates-with-large-b-cells-a-review-of-key-entities-and-diagnostic-approach
#9
REVIEW
Chee Leong Cheng, Simon O'Connor
Accurate diagnostic interpretation of a lymphoid population composed predominantly of small T cells, together with smaller numbers of large B cells, with or without a nodular architecture, is a common problem faced by the histopathologist. The differential diagnosis of this histological pattern is wide, ranging from reactive conditions such as drug reactions and viral infections, through borderline entities such as immunodeficiency-related lymphoproliferative disorders to lymphomas. The latter includes entities where the large B cells are primarily neoplastic (classical and nodular lymphocyte-predominant Hodgkin lymphomas and T cell/histiocyte-rich large B cell lymphoma) as well as T cell lymphomas such as angioimmunoblastic T cell lymphoma where the large B cells represent an epiphenomenon and may or may not be neoplastic...
November 28, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27890718/thalassaemia-screening-and-confirmation-of-carriers-in-parents
#10
REVIEW
Angela N Barrett, Ramasamy Saminathan, Mahesh Choolani
Haemoglobinopathies are among the most common inherited monogenic disorders worldwide. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. Conventional laboratory methods for screening include the assessment of haematological indices, and high-performance liquid chromatography, capillary electrophoresis or isoelectric focusing to measure the levels of HbA2 and HbF, and to identify haemoglobin variants. Each screening method has its advantages and disadvantages, the main disadvantage being that none can fully resolve all variants...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27889754/serous-cystadenoma-of-the-pancreas-potentials-and-pitfalls-of-a-preoperative-cytopathologic-diagnosis
#11
Mohammed T Lilo, Christopher J VandenBussche, Derek B Allison, Anne Marie Lennon, Bouchra K Younes, Ralph H Hruban, Christopher L Wolfgang, Syed Z Ali
OBJECTIVES: Pancreatic serous cystadenomas (SCAs) are benign tumors. Technological advances in imaging have led to increased recognition of asymptomatic pancreatic cysts, consequently increasing the demand for cytomorphologic evaluations of cyst fluid. STUDY DESIGN: A retrospective search through the pathology archives over an 11-year period was performed to identify SCAs from pancreatectomy specimens with a presurgical pancreatic EUS-guided fine-needle aspiration (FNA)...
November 26, 2016: Acta Cytologica
https://www.readbyqxmd.com/read/27887017/massive-seminoma-presenting-with-inguinal-lymph-node-metastases-only
#12
Benjamin C Norton, Ian Robertson, Hui Fan, Rula Najim, Yaman Altal, Ann Sandison, David Hrouda
Seminomatous germ cell tumours characteristically affect men in their second-to-fourth decades, presenting as a testicular mass. Metastases when present are usually seen in para-aortic lymph nodes. These tumours are difficult to diagnose clinically and histologically when the presentation is unusual. We describe a seminoma presenting in a 61-year-old male as an inguinal mass with associated lymphadenopathy resembling lymphoma. Past medical history included ipsilateral cryptorchidism and orchidopexy. The tumour responded well to conventional chemotherapy...
November 24, 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27882751/-septic-shock-in-pregnancy-on-the-basis-of-an-acute-pyelonephritis
#13
Z Kokrdová, A Pařízek, M Koucký, A Pašková, B Boudová
OBJECTIVE: According to the World Health Organisation, sepsis is one of the four main causes of pregnancy-related mortality worldwide, together with hemorrhage, hypertensive disease and abortion. The main goal of this paper is an analysis of one case of septic shock in pregnancy. DESIGN: A case report. SETTING: Department of Obstetrics and Gynaecology of the First Faculty of Medicine and General Teaching Hospital, Prague. METHODS AND RESULTS: Authors would like to draw attention to the pitfalls of diagnosis and treatment of septic shock which developed in 25th week of pregnancy on the basis of pyelonephritis due to E...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27875758/beyond-the-lymph-nodes-fdg-pet-ct-in-primary-extranodal-lymphoma
#14
REVIEW
Kin Man Sin, Stanton King Dat Ho, Brian Yung Kong Wong, Harry Gill, Pek-Lan Khong, Elaine Yuen Phin Lee
Extranodal lymphoma can be the primary presentation or secondary to systemic involvement of lymphoma. 2-(fluorine-18) fluoro-2-deoxy-d-glucose positron emission tomography with computer tomography (FDG-PET/CT) is useful in detecting extranodal sites during staging, treatment response assessment or recurrence detection in patients with lymphoma. In this article, we reviewed the imaging features and FDG avidity of primary extranodal lymphoma of various organs and systems on FDG-PET/CT, demonstrating the pearls and pitfalls of FDG-PET/CT in evaluating this disease entity and cross-referencing to other imaging modalities that aid in diagnosis and management...
November 16, 2016: Clinical Imaging
https://www.readbyqxmd.com/read/27864669/subaxial-cervical-spine-trauma
#15
REVIEW
Eric Feuchtbaum, Jacob Buchowski, Lukas Zebala
Subaxial cervical spine trauma is common and an often missed diagnosis. Accurate and efficient diagnosis and management is necessary to avoid devastating complications such as spinal cord injury. Several classification schemes have been devised to help categorize fractures of the subaxial spine and define treatment algorithms. The Subaxial Cervical Spine Injury Classification System (SLIC) is widely used and evaluates not only fracture morphology but also considers ligamentous injury and neurological status in surgical decision making...
December 2016: Current Reviews in Musculoskeletal Medicine
https://www.readbyqxmd.com/read/27863160/primary-b-cell-lymphoma-of-the-uterine-cervix-presentation-in-pap-test-slide-and-cervical-biopsy
#16
Guang Yang, Jeremy Deisch, Margaret Tavares, Qin Haixia, Camilla Cobb, Anwar S Raza
This case involved a 69-year-old female who presented with irritative urinary voiding. Imaging studies showed an 18-cm uterine mass centering on the cervix and extending into the bladder. The Pap test slide demonstrated necrotic background and degenerative changes in single and grouped atypical "small round blue cells" with high nuclear/cytoplasm ratio, scant cytoplasm, and hyperchromatic focally cleaved nuclei with occasional nuclear membrane "snout projections." Cervical biopsies showed similar findings. The tumor cells were positive for CD45, CD20, and PAX-5, and negative with epithelial, neuroendocrine, and muscle markers...
November 8, 2016: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/27862349/lymphogranuloma-venereum-with-only-proximal-rectal-involvement-mimicking-inflammatory-bowel-disease-a-potential-diagnostic-pitfall
#17
F Rob, J Kašpírková, K Jůzlová, M Pešta, J Hercogová
Lymphogranuloma venereum (LGV) is a sexually transmitted infection (STI) caused by the invasive serovars L1, L2 and L3 of Chlamydia trachomatis (C. trachomatis). [1] The incidence of LGV is rising in many Western countries. [2] The most common symptoms of LGV are proctitis and inguinal lymphadenopathy. LGV mimicking inflammatory bowel disease (IBD) is not a rare condition and has already been described in several reports. [3,4] LGV can affect even more proximal parts of the bowel. [5] Diagnosis of LGV is usually done by positive NAAT for C...
November 15, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27861333/isolated-neurosarcoidosis-mimicking-multifocal-meningiomas-a-diagnosis-pitfall-a-case-report
#18
Kun Wang, Xiaoying He, Wei Wang, Huanjiang Niu, Yirong Wang, Xiujun Cai, Shuxu Yang
INTRODUCTION: Neurosarcoidosis accounts for approximately 5% of the sarcoidosis, which develops exclusively in the nervous system and is always difficult to diagnose. We describe a rare case of isolated neurosarcoidosis mimicking as multifocal meningiomas. A 27-year-old male was admitted to our hospital with a history of unconsciousness and convulsion 1 month ago, which was suspected as a seizure. The results showed no abnormalities in complete blood count; serum electrolytes; erythrocyte sedimentation rate and ultrasonography of the liver, pancreas, spleen, kidney and parotid gland, and so on...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27854225/myasthenia-gravis-unusual-presentations-and-diagnostic-pitfalls
#19
Carmelo Rodolico, Daniela Parisi, Simona Portaro, Fiammetta Biasini, Stefano Sinicropi, Annamaria Ciranni, Antonio Toscano, Sonia Messina, Olimpia Musumeci, Giuseppe Vita, Paolo Girlanda
BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. OBJECTIVE: To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. METHODS: We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27848910/-the-pitfalls-of-necrotising-soft-tissue-infection-a-wake-up-call-for-surgeons
#20
V M de Jong, J C Goslings
Necrotising soft tissue infections require early consultation of an experienced surgeon, regardless of what time of day they occur. Delays in diagnosis and treatment should not occur. Necrotectomy should be skin-sparing when possible. A low threshold for consultation with a tertiary referral center is recommended.
2016: Nederlands Tijdschrift Voor Geneeskunde
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