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Seyran Yiğit, Neşe Ekinci, Leyla Hayrullah, İrfan Öcal, İncim Bezircioğlu
OBJECTIVE: Dedifferentiated endometrioid adenocarcinoma is a recently defined uterine tumor composed of low grade endometrioid adenocarcinoma and undifferentiated carcinoma. Herein we present clinicopathologic, morphologic and immunohistochemical features of 5 dedifferentiated endometrioid adenocarcinoma cases. MATERIAL AND METHODS: All cases diagnosed as mixed endometrial adenocarcinoma (endometrioid + undifferentiated carcinoma) or dedifferentiated endometrioid adenocarcinoma between January 2008 and December 2014 were retrieved from the archives of our institution's pathology department...
March 16, 2018: Journal of the Turkish German Gynecological Association
Istvan Bodi, Anastasios Giamouriadis, Naomi Sibtain, Ross Laxton, Andrew King, Francesco Vergani
Background: Primary CNS malignant rhabdoid tumors are very rare in adults and much less is known about their biological behavior than in children. Recently, two adult cases of SMARCB1 (also known as INI1)-deficient tumor with rhabdoid cells have been described, suggesting an emerging group of primary meningeal SMARCB1-deficient tumors. We have recently encountered a case of INI1-deficient tumor with similar histology and immunophenotype to the above cases, but with a superficial cerebral, yet apparent intra-axial origin...
2018: Surgical Neurology International
Michael Schwake, Andrei Nemes, Jana Dondrop, Juliane Schroeteler, Stephanie Schipmann, Volker Senner, Walter Stummer, Christian Ewelt
BACKGROUND: Light irradiation (635 nm) of cells containing protoporphyrin IX (PPIX) after 5- aminolevulinic acid (5-ALA) pretreatment causes cell death via different pathways including apoptosis and necrosis, as previously demonstrated for malignant glioma cells. OBJECTIVE: To elucidate whether various malignant pediatric brain tumors, which have been shown to accumulate PPIX, would also be susceptible to photodynamic therapy (PDT). METHODS: Medulloblastoma (DAOY, UW228), pNET (PFSK-1), and rhabdoid tumor (BT16) cell lines were incubated with 5-ALA in variable concentrations for 4 h...
March 12, 2018: Neurosurgery
Hakushi Kim, Chie Inomoto, Takato Uchida, Hiroyuki Furuya, Tomoyoshi Komiyama, Hiroshi Kajiwara, Hiroyuki Kobayashi, Naoya Nakamura, Akira Miyajima
The aim of the present study was to evaluate the validity of potential prognostic parameters of clear cell renal cell carcinoma (ccRCC) recommended by the 2012 International Society of Urological Pathology (ISUP) Consensus Conference in the Japanese population. We reviewed 406 Japanese patients with localized or locally advanced ccRCC who underwent curative surgery during 2004-2014 at Tokai University Hospital (Isehara, Japan) and were followed up for >2 years after surgery. A single pathologist reviewed all the histological slides...
April 2018: International Journal of Oncology
Robert Y Shih, Kelly K Koeller
Embryonal tumors of the central nervous system (CNS) are highly malignant undifferentiated or poorly differentiated tumors of neuroepithelial origin and have been defined as a category in the World Health Organization (WHO) classification since the first edition of the "Blue Book" in 1979. This category has evolved over time to reflect our ever-improving understanding of tumor biology and behavior. With the most recent update in 2016, many previous histologic diagnoses incorporate molecular parameters for the first time (genetically defined entities)...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Karolina Nemes, Michael C Frühwald
Malignant Rhabdoid Tumor (MRT) is a rare and highly aggressive malignancy primarily affecting infants and young children. The most common anatomic locations are the central nervous system (AT/RT), the kidneys (RTK) and other soft tissues (eMRT). The genetic origin of this disease is linked to mutations in SMARCB1, a gene encoding a core subunit of the SWI/SNF chromatin-remodeling complex. Areas covered: Conventional multimodal treatment may offer a significant survival benefit to certain patients. It remains to be determined, however, which patients will prove resistant to chemotherapy and need novel therapeutic approaches...
March 12, 2018: Expert Opinion on Therapeutic Targets
José E Velázquez Vega, Daniel J Brat
Recent advances in molecular pathology have reshaped the practice of brain tumor diagnostics. The classification of gliomas has been restructured with the discovery of isocitrate dehydrogenase (IDH) 1/2 mutations in the vast majority of lower grade infiltrating gliomas and secondary glioblastomas (GBM), with IDH-mutant astrocytomas further characterized by TP53 and ATRX mutations. Whole-arm 1p/19q codeletion in conjunction with IDH mutations now define oligodendrogliomas, which are also enriched for CIC, FUBP1, PI3K, NOTCH1, and TERT-p mutations...
March 8, 2018: Advances in Anatomic Pathology
Santhosh A Upadhyaya, Rose B McGee, Breelyn A Wilky, Alberto Broniscer
Malignant progression of a benign or low-grade tumor in individuals with germline alteration of SMARCB1 gene is not well characterized. In a family in which two carrier children had germline SMARCB1 mutations and atypical teratoid rhabdoid tumor, we report malignant progression of a nerve sheath tumor over a 7-year period in an affected adult family member. Prompt identification of the germline SMARCB1 alteration and the resultant rhabdoid tumor predisposition syndrome can help guide genetic counseling and surveillance in affected family members...
March 7, 2018: Pediatric Blood & Cancer
N G Jun Jie, Kok Ann Teo, Asim Shabbir, Tseng Tsai Yeo
Intra-abdominal metastasis (IAM) of central nervous system (CNS) tumors via ventriculoperitoneal shunt (VPS) is rare but has been previously reported (e.g., germinomas and medulloblastomas). However, there has been no previous report in the literature involving meningiomas. A case of primary rhabdoid meningioma with widespread intra-abdominal carcinomatosis after placement of a VPS in a 36-year-old man is described. The patient underwent preoperative angioembolization of the tumor, craniotomy, and surgical excision, followed by postoperative gamma knife radiosurgery...
January 2018: Asian Journal of Neurosurgery
Virginia E Duncan, Jason A Wicker, David R Kelly, Rong Li
Malignant rhabdoid tumors (MRT; atypical teratoid/rhabdoid tumor [ATRT] in the central nervous system) are aggressive tumors in infants and children which can overlap with other sarcomas, such as synovial sarcoma (SS). The gold standard for SS diagnosis is characterization of the t(X;18) chromosomal translocation. However, stratification of cases for molecular analysis is not always straightforward or feasible. Recent literature suggests transducer-like enhancer of split 1 (TLE1) protein expression may distinguish SS from certain histologic mimics; however, this has not been investigated in MRT and ATRT...
January 1, 2018: Pediatric and Developmental Pathology
Joshua Casaos, Sakibul Huq, Tarik Lott, Raphael Felder, John Choi, Noah Gorelick, Michael Peters, Yuanxuan Xia, Russell Maxwell, Tianna Zhao, Chenchen Ji, Thomas Simon, Julie Sesen, Sarah J Scotland, Richard E Kast, Jeffrey Rubens, Eric Raabe, Charles G Eberhart, Eric M Jackson, Henry Brem, Betty Tyler, Nicolas Skuli
Atypical teratoid/rhabdoid tumors (AT/RT) are highly aggressive, malignant tumors and are the most common malignant brain tumor in children under 6 months of age. Currently, there is no standard treatment for AT/RT. Recent studies have reported potential anti-tumoral properties of ribavirin, a guanosine analog and anti-viral molecule approved by the Food and Drug Administration for treatment of hepatitis C. We previously demonstrated that ribavirin inhibited glioma cell growth in vitro and in vivo . Based on these results and the fact that no pre-clinical model of ribavirin in AT/RT exists, we decided to investigate the effect of ribavirin on several human AT/RT cell lines (BT12, BT16, and BT37) both in vitro and in vivo ...
January 30, 2018: Oncotarget
Dane H Slentz, Sunil Bellur, M Reza Taheri, M Isabel Almira-Suarez, Jonathan H Sherman, Tamer N Mansour
An elderly female with progressive proptosis was found to have an aggressive retrobulbar solid orbital mass. The mass was distinct from the optic nerve sheath and intracranial meninges, and produced concave erosion of the sphenoid wing. Operative findings demonstrated an orbital mass adherent to the dura of the superior orbital fissure. The mass did not demonstrate meningeal violation, infiltrate the superior orbital fissure, or display intracranial spread. The dura remained intact after gross total resection...
February 27, 2018: Orbit
David Creytens, Liesbeth Ferdinande, Jo Van Dorpe
We report the case of a dedifferentiated solitary fibrous tumor with heterologous rhabdomyosarcomatous differentiation in a 74-year-old male presenting with a rapidly growing, large soft tissue tumoral mass in the gluteal muscles of the right hip. Dedifferentiation in solitary fibrous tumor had not been recognized until very recently and is an extremely rare phenomenon in this tumor type. In the present case, the diagnosis of dedifferentiated solitary fibrous tumor was difficult because of the absence of areas of conventional solitary fibrous tumor with a predominantly poorly differentiated, anaplastic tumor component in the incision biopsy composed of heterogeneous areas with small blue round cell (Ewing sarcoma-like), rhabdoid, epithelioid, and pleomorphic morphology...
February 1, 2018: International Journal of Surgical Pathology
Francesco D'Amico, Alessandra Bertacco, Maurizio Cesari, Claudia Mescoli, Giorgio Caturegli, Gabriel Gondolesi, Umberto Cillo
BACKGROUND: Malignant extrarenal rhabdoid tumor of the gastrointestinal tract is rarely reported in the literature. It is characterized by poor prognosis and aggressive metastatic features. A literature review evidenced only 19 cases, with poor outcome. CASE PRESENTATION: We report a case of a colonic "pure" malignant extrarenal rhabdoid tumor with metastatic nodes in a 65-year-old Caucasian man. He was treated surgically with no recurrence, no adjuvant chemotherapy, and with 4-year survival without disease at the time of the submission of this article...
February 17, 2018: Journal of Medical Case Reports
Adomas Bunevicius, Algimantas Matukevicius, Vytenis Deltuva, Inga Gudinaviciene, Darius Pranys, Arimantas Tamsauskas
OBJECTIVE: In vitro fertilization (IVF) is increasingly used for treatment of infertile couples worldwide. The association between IVF and cancer risk in offsprings is conflicting. We present a case of atypical teratoid/rhabdoid tumor (AT/RT) in a girl conceived by IVF and present results of systematic review of literature of primary intracranial neoplasms diagnosed in children conceived by IVF. METHODS: A systematic review of literature was conducted on April 12, 2017 to identify previously published reports of intracranial brain tumors in patients conceived after IVF...
February 13, 2018: World Neurosurgery
Jason Klein, Alex Ghasem, Samuel Huntley, Nathan Donaldson, Martin Keisch, Sheila Conway
BACKGROUND: High-dose-rate brachytherapy (HDR-BT) and external-beam radiation therapy (EBRT) are two modalities used in the treatment of soft tissue sarcoma. Previous work at our institution showed early complications and outcomes for patients treated with HDR-BT, EBRT, or a combination of both radiation therapy modalities. As the general indications for each of these approaches to radiation therapy differ, it is important to evaluate the use of each in an algorithmic way, reflecting how they are used in contemporary practice at sites that use these treatments...
March 2018: Clinical Orthopaedics and related Research
Jo-Fen Liu, Robert A Dineen, Shivaram Avula, Tom Chambers, Manali Dutta, Tim Jaspan, Donald C MacArthur, Simon Howarth, Daniele Soria, Philip Quinlan, Srikrishna Harave, Chan Chang Ong, Conor L Mallucci, Ram Kumar, Barry Pizer, David A Walker
BACKGROUND: Despite previous identification of pre-operative clinical and radiological predictors of post-operative paediatric cerebellar mutism syndrome (CMS), a unifying pre-operative risk stratification model for use during surgical consent is currently lacking. The aim of the project is to develop a simple imaging-based pre-operative risk scoring scheme to stratify patients in terms of post-operative CMS risk. METHODS: Pre-operative radiological features were recorded for a retrospectively assembled cohort of 89 posterior fossa tumour patients from two major UK treatment centers (age 2-23yrs; gender 28 M, 61 F; diagnosis: 38 pilocytic astrocytoma, 32 medulloblastoma, 12 ependymoma, 1 high grade glioma, 1 pilomyxoid astrocytoma, 1 atypical teratoid rhabdoid tumour, 1 hemangioma, 1 neurilemmoma, 2 oligodendroglioma)...
February 12, 2018: British Journal of Neurosurgery
Amit Amit, Atul Vats, Alireza Shoakazemi, Brian Herron, Anthony McCarthy, Robert Scott McConnell
Spinal Atypical Teratoid/Rhabdoid Tumour (AT/RT) is a highly malignant tumour, and its prognosis is dismal especially for very young patients. In this article, we present the case of a teenage boy with AT/RT in the cervical spine and its multimodality management. A review of the literature on ATRT of the spine is also presented.
February 12, 2018: British Journal of Neurosurgery
Emilia M Pinto, Dima Hamideh, Armita Bahrami, Brent A Orr, Tong Lin, Stanley Pounds, Gerard P Zambetti, Alberto S Pappo, Amar Gajjar, Sameer Agnihotri, Alberto Broniscer
Multifocal synchronous or metachronous atypical teratoid rhabdoid tumors (ATRTs) and non-central nervous system malignant rhabdoid tumors (extra-CNS MRTs) are rare cancers. We reviewed the clinical and radiologic characteristics of affected patients seen at our institution. Genotyping and analysis of copy number abnormalities (CNAs) in SMARCB1 were performed in germline and tumor samples. Tumor samples underwent genome-wide DNA methylation and CNA analysis. The median age at diagnosis of 21 patients was 0.6 years...
February 10, 2018: Acta Neuropathologica
Naoki Nitta, Suzuko Moritani, Tadateru Fukami, Yayoi Yoshimura, Hisao Hirai, Kazuhiko Nozaki
BACKGROUND: Epithelioid glioblastoma, a high-grade, diffuse astrocytic tumor variant, comprises closely packed epithelioid cells and rhabdoid cells. This rare tumor usually develops in the cerebral cortex and diencephalon; however, in one woman, it was located intraventricularly. CASE DESCRIPTION: A 47-year-old woman was referred to our hospital because the patient had a right intraventricular mass that had rapidly increased in size. Upon discovery of the tumor three years earlier by the referring hospital, the mass was small, calcified and attached to the periventricular parenchyma; until 1 year before, it grew slowly, as observed in periodic, magnetic resonance imaging scans...
February 6, 2018: World Neurosurgery
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