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Angiomyolipoma

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https://www.readbyqxmd.com/read/29774133/sporadic-renal-angiomyolipoma-in-a-patient-with-birt-hogg-dub%C3%A3-chaperones-in-pathogenesis
#1
Rebecca A Sager, Mark R Woodford, Oleg Shapiro, Mehdi Mollapour, Gennady Bratslavsky
Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the FLCN gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the TSC1 or TSC2 tumor suppressor genes. Previous case reports of renal AML in patients with BHD have speculated on the molecular and clinical overlap of these two syndromes as a result of described involvement of the gene products in the mTOR pathway...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29767316/-ceus-diagnosis-of-solid-renal-tumors
#2
REVIEW
K Stock, H Kübler, T Maurer, J Slotta-Huspenina, K Holzapfel
CLINICAL ISSUE: Renal lesions are detected earlier, often as a result of ultrasound examinations. However, the imaging-based differential diagnosis of different tumour entities remains challenging STANDARD RADIOLOGICAL METHODS: All renal tumours >1 cm should be evaluated for malignancy by computed tomography (CT) or magnetic resonance imaging (MRI). If an angiomyolipoma diagnosis cannot be established with imaging, further diagnostics are appropriate or if malignant progression is suspected, then multidisciplinary discussion for TNM-staging based uro-oncologic therapy is usual...
May 16, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29764404/advanced-sporadic-renal-epithelioid-angiomyolipoma-case-report-of-an-extraordinary-response-to-sirolimus-linked-to-tsc2-mutation
#3
Marta Espinosa, Juan Maria Roldán-Romero, Ignacio Duran, Enrique de Álava, María Apellaniz-Ruiz, Alberto Cascón, Carmen Garrigos, Mercedes Robledo, Cristina Rodriguez-Antona
BACKGROUND: Renal epithelioid angiomyolipomas (EAML) are rare tumors with aggressive behavior. EAML can be sporadic or develop within the tuberous sclerosis complex syndrome, where mutations of TSC1 or TSC2 genes (critical negative regulators of mTOR Complex 1) result in an increased activation of mTOR pathway. Optimal EAML treatment, including mTOR inhibitors, remains undetermined. CASE PRESENTATION: Here we present the case of a young adult with a renal EAML that after radical nephrectomy developed metastases, first in liver and then in lumbar vertebrae...
May 15, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29762256/computed-tomography-perfusion-measurements-in-renal-lesions-obtained-by-bayesian-estimation-advanced-singular-value-decomposition-deconvolution-maximum-slope-and-patlak-models-intermodel-agreement-and-diagnostic-accuracy-of-tumor-classification
#4
Dominik Deniffel, Timothé Boutelier, Aissam Labani, Mickael Ohana, Daniela Pfeiffer, Catherine Roy
OBJECTIVES: The aims of this study were to evaluate the agreement of computed tomography (CT)-perfusion parameter values of the normal renal cortex and various renal tumors, which were obtained by different mathematical models, and to evaluate their diagnostic accuracy. MATERIALS AND METHODS: Perfusion imaging was performed prospectively in 35 patients to analyze 144 regions of interest of the normal renal cortex and 144 regions of interest of renal tumors, including 21 clear-cell renal cell carcinomas (RCC), 6 papillary RCCs, 5 oncocytomas, 1 chromophobe RCC, 1 angiomyolipoma with minimal fat, and 1 tubulocystic RCC...
May 14, 2018: Investigative Radiology
https://www.readbyqxmd.com/read/29758070/rapamycin-independent-igf2-expression-in-tsc2-null-mouse-embryo-fibroblasts-and-human-lymphangioleiomyomatosis-cells
#5
Blanca E Himes, Kseniya Obraztsova, Lurong Lian, Maya Shumyatcher, Ryan Rue, Elena N Atochina-Vasserman, Stella K Hur, Marisa S Bartolomei, Jilly F Evans, Vera P Krymskaya
Lymphangioleiomyomatosis (LAM) is a rare, almost exclusively female lung disease linked to inactivating mutations in tuberous sclerosis complex 2 (TSC2), a tumor suppressor gene that controls cell metabolic state and growth via regulation of the mechanistic target of rapamycin (mTORC1) signaling. mTORC1 is frequently activated in human cancers and, although the mTORC1 inhibitor rapamycin has a cytostatic effect, it is, in general, unable to elicit a robust curative effect or tumor regression. Using RNA-Seq, we identified (1) Insulin-like Growth Factor (IGF2) as one of the genes with the highest fold-change difference between human TSC2-null and TSC2-expressing angiomyolipoma cells from a patient with LAM, and (2) the mouse IGF2 homolog Igf2, as a top-ranking gene according to fold change between Tsc2-/- and Tsc2+/+ mouse embryo fibroblasts (MEFs)...
2018: PloS One
https://www.readbyqxmd.com/read/29744641/evaluation-of-renal-lesions-using-contrast-enhanced-ultrasound-ceus-a-10-year-retrospective-european-single-centre-analysis
#6
Johannes Rübenthaler, G Negrão de Figueiredo, K Mueller-Peltzer, D A Clevert
OBJECTIVE: To investigate the usefulness of contrast-enhanced ultrasound (CEUS) in the evaluation of renal masses. METHODS: This study included 255 patients with renal masses. Ages ranged from 18-86 years. CEUS was used for determining malignancy or benignancy and findings were correlated with the histopathological outcome. Out of 255 lesions, 212 lesions were malignant (83.1%) and 43 were benign (16.9%). Diagnostic accuracy was tested using the histopathological diagnosis as the gold standard...
May 9, 2018: European Radiology
https://www.readbyqxmd.com/read/29733801/evaluation-of-renal-tumors-in-children
#7
Gülçin Bozlu, Elvan Çağlar Çıtak
OBJECTIVE: Renal tumors are not uncommon in children. In this study, we aimed to evaluate the clinical and pathological features of renal tumors in children. MATERIAL AND METHODS: Between January 2008 and December 2017, the records of children with renal tumors in our institution were retrospectively analyzed. Data collected were composed of demographic and clinical characteristics including gender, age at time of diagnosis, symptoms, laterality of the tumor and pathological evaluation...
May 2018: Turkish Journal of Urology
https://www.readbyqxmd.com/read/29723675/retroperitoneal-laparoscopic-nephron-sparing-surgery-for-large-renal-angiomyolipoma-our-technique-and-experience-a-case-series-of-41-patients
#8
Xin Liu, Xin Ma, Qiming Liu, Qingbo Huang, Xintao Li, Baojun Wang, Hongzhao Li, Xu Zhang
OBJECTIVES: To introduce a 'kidney priority' strategy in treating large renal angiomyolipoma (RAML) with retroperitoneal laparoscopic nephron sparing surgery (RLNSS). PATIENTS AND METHODS: From 2010 to 2017, 41 patients with large RAML underwent RLNSS. Distinguished from the standard practice, the kidney was preferentially mobilized and separated from the RAML. Subsequently, it was reconstructed. Finally, the RAML was resected from the perinephric fat. The perioperative variables, surgical technique and complications were reviewed...
April 30, 2018: International Journal of Surgery
https://www.readbyqxmd.com/read/29707365/a-rare-case-of-renal-angiomyolipoma-involved-both-inferior-vena-cava-and-pulmonary-arteries
#9
Jun Gu, Ling Zeng, Hao Zeng, Chaoyi Qin, Zhong Wu
Angiomyolipoma is a benign mesenchymal tumour, which rarely involve inferior vena cava (IVC) and pulmonary arteries. Here we reported a 41-year-old man, who presented symptoms of chronic pulmonary embolism. After multiple images evaluation, a large tumour with the same properties as the pulmonary embolism was found in the right kidney. One-staged surgery to remove both pulmonary embolism and right kidney was performed. Histological study showed the tumour and embolism as angiomyolipoma. The present study reported a rare case with renal angiomyolipoma and both IVC and pulmonary arteries involvements, which provided a good example for differential diagnosis in the emergency department and treating a rare type of chronic pulmonary embolism after renal angiomyolipoma...
March 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29701176/consequences-of-delay-in-screening-monitoring-and-treatment-of-angiomyolipoma-and-tuberous-sclerosis-a-case-report
#10
Tanjala T Gipson
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder that results in tumor growth in various organs. TSC can affect the kidneys in the form of renal angiomyolipomas and cysts that can lead to chronic kidney disease. CASE PRESENTATION: A 38-year-old woman was referred to Kennedy Krieger Institute for comprehensive TSC management. Before referral, the patient had gone most of her life without a definite diagnosis of TSC despite visually-prominent signs such as forehead plaques, facial angiofibromas, and ungual fibromas...
April 27, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29697822/renal-angiomyolipoma-in-patients-with-tuberous-sclerosis-complex-findings-from-the-tuberous-sclerosis-registry-to-increase-disease-awareness
#11
J Chris Kingswood, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D' Amato, Guillaume Beaure d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
Background: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort studies. Here we present baseline and follow-up data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with an aim to provide detailed clinical characteristics of renal angiomyolipoma among patients with TSC...
April 25, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29696566/outcomes-of-ultrasound-guided-renal-mass-biopsies
#12
Edward L Sutherland, Agnieszka Choromanska, Sayf Al-Katib, Mary Coffey
PURPOSE: The purpose of this study was to evaluate the rate of nondiagnostic ultrasound-guided renal mass biopsies (RMBs) at our institution and to determine what patient, procedural, and focal renal mass (FRM) factors were associated with nondiagnostic ultrasound-guided RMBs. METHODS: Eighty-two ultrasound-guided renal mass biopsies performed between January 2014 and October 2016 were included in our study. Biopsy outcomes (diagnostic vs. nondiagnostic) and patient, procedural, and FRM characteristics were retrospectively reviewed and recorded...
April 25, 2018: Journal of Ultrasound
https://www.readbyqxmd.com/read/29691619/quantitative-multiparametric-mr-analysis-of-small-renal-lesions-correlation-with-surgical-pathology
#13
Motoyo Yano, Kathryn J Fowler, Santip Srisuwan, Amber Salter, Cary L Siegel
PURPOSE: The purpose of the study is to evaluate the utility of apparent diffusion coefficient (ADC), chemical shift signal intensity index (SII), and contrast enhancement in distinguishing between benign lesions and renal cell carcinoma (RCC) and between subtypes of renal lesions. METHODS: This retrospective study included 98 renal lesions (≤ 3 cm) on MRI with correlative surgical pathology. Scanner field strength, lesion location, and size were recorded. Two readers blinded to surgical pathology independently measured ADC ratio (ADC lesion/ADC non-lesion kidney), SII, and absolute/relative enhancement in the corticomedullary and nephrographic phases of contrast...
April 24, 2018: Abdominal Radiology
https://www.readbyqxmd.com/read/29686563/pulmonary-lymphangioleiomyomatosis-associated-with-aggressive-renal-angiomyolipoma
#14
Allison Cooper, Laura Baugh, Shannon Kelley, Howard Huang, Joseph Guileyardo
Lymphangioleiomyomatosis (LAM) is a rare cystic pulmonary disease that may occur in association with mutations in the tuberous sclerosis genes or arise sporadically. The histologic hallmark of the disease is the "LAM" cell, a spindled to epithelioid smooth muscle-like cell that bears morphologic and immunohistochemical resemblance to the perivascular epithelioid cell tumors (PEComas). The origin of the "LAM" cell is unknown; emerging theories suggest that a member of the PEComa family, the renal angiomyolipoma, may be the primary source and that both LAM and angiomyolipomas are associated with the genetic syndrome tuberous sclerosis...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29686177/bilateral-giant-renal-angiomyolipoma-in-a-patient-with-tuberous-sclerosis-complex-a-case-report
#15
Andika Afriansyah, Abdul M Yusuf, Harry Nusaly
Tuberous sclerosis complex (TSC) has several renal manifestations including angiomyolipomas (AML) and renal epithelial neoplasms. A bilateral giant renal AML is extremely rare. We report a case of giant bilateral AML and discuss the diagnosis and treatment of it. The 22-year-old man was admitted due to bilateral flank pain, gross hematuria, and abdominal fullness. He had history of epilepsy, mental retardation, and delayed development during childhood. He had angiofibroma on his face since 10 years ago. Abdominal CT and MRI revealed large lobulated heterogeneous mass with fatty content...
January 2018: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29685402/angiomyolipoma-of-the-kidneys-current-perspectives-and-challenges-in-diagnostic-imaging-and-image-guided-therapy
#16
REVIEW
Abdul Razik, Chandan J Das, Sanjay Sharma
Angiomyolipomas (AML) are benign tumors of the kidneys frequently encountered in radiologic practice in large tertiary centers. In comparison to renal cell carcinomas (RCC), AML are seldom treated unless they are large, undergo malignant transformation or develop complications like acute hemorrhage. The common garden triphasic (classic) AML is an easy diagnosis, however, some variants lack macroscopic fat in which case the radiologic differentiation from RCC becomes challenging. Several imaging features, both qualitative and quantitative, have been described in differentiating the 2 entities...
March 20, 2018: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/29684949/-a-case-of-bilateral-angiomyolipoma-accompanied-by-tuberous-sclerosis-complex-successfully-treated-with-transcatheter-arterial-embolization-using-functional-kidney-mapping-images-consisting-of-spect-ct-and-contrast-enhanced-ct-images
#17
Gaku Yamamichi, Toyofumi Abe, Yu Ishizuya, Kazutoshi Fujita, Motohide Uemura, Hiroshi Kiuchi, Ryoichi Imamura, Yasushi Miyagawa, Yusuke Ono, Hiroki Higashihara, Keigo Osuga, Norio Nonomura
Renal angiomyolipoma (AML) and aneurysm are common in tuberous sclerosis complex (TSC) and represent the main causes of morbidity in adults with TSC. Herein, we report a 22-year-old woman with TSC-associated AMLs and renal aneurysms. She was referred to our hospital for the treatment of multiple renal aneurysms larger than 5 mm in diameter. The previous hospital considered that transcatheter arterial embolization (TAE) of bilateral renal aneurysms would cause deterioration of renal function. To estimate the impact of TAE on renal function, we superimposed contrast enhanced computed tomography (CT) over single-photon emission CT (SPECT)-CT...
February 2018: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/29682721/spontaneous-rupture-of-renal-cell-carcinoma-in-pregnancy-surgical-management-with-fetal-preservation-a-case-report
#18
Abbas Hassanpour, Faisal Ahmed, Babak Shirazi Yeganeh, Bahia Namavar Jahromi, Alireza Makarem
Spontaneous Retroperitoneal hemorrhage in pregnancy is a rare condition. Renal angiomyolipoma (RA) is the most common cause of this hemorrhage. To the best of our knowledge, this is the first reported case of Wunderlich syndrome (WS) due to renal cell carcinoma (RCC) diagnosed in the second trimester of pregnancy.
April 23, 2018: Urology Journal
https://www.readbyqxmd.com/read/29669930/tsc2-deficient-tumors-have-evidence-of-t-cell-exhaustion-and-respond-to-anti-pd-1-anti-ctla-4-immunotherapy
#19
Heng-Jia Liu, Patrick H Lizotte, Heng Du, Maria C Speranza, Hilaire C Lam, Spencer Vaughan, Nicola Alesi, Kwok-Kin Wong, Gordon J Freeman, Arlene H Sharpe, Elizabeth P Henske
Tuberous sclerosis complex (TSC) is an incurable multisystem disease characterized by mTORC1-hyperactive tumors. TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer. Whether TSC-associated tumors will respond to immunotherapy is unknown. We report here that the programmed death 1 coinhibitory receptor (PD-1) is upregulated on T cells in renal angiomyolipomas (AML) and pulmonary lymphangioleiomyomatosis (LAM). In C57BL/6J mice injected with syngeneic TSC2-deficient cells, anti-PD-1 alone decreased 105K tumor growth by 67% (P < 0...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29668633/an-update-on-recent-developments-in-rupture-of-renal-angiomyolipoma
#20
Chenyang Wang, Xinyuan Li, Linglong Peng, Xin Gou, Jing Fan
BACKGROUND: Renal angiomyolipoma (AML) is a common benign tumor of the kidney. The main complication of AML is retroperitoneal hemorrhage caused by AML rupture, which can be severe and life threatening. The risk of AML rupture used to be determined by tumor size. However, these criteria have been challenged by series of clinical studies and case reports, suggesting prediction AML rupture based on tumor size is not always reliable. METHODS: The authors searched PubMed using "angiomyolipoma," "AML," and "rupture" and reviewed relevant studies...
April 2018: Medicine (Baltimore)
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