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Lymphangioleiomyomatosis

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https://www.readbyqxmd.com/read/28202529/aberrant-syk-kinase-signaling-is-essential-for-tumorigenesis-induced-by-tsc2-inactivation
#1
Ye Cui, Wendy K Steagall, Anthony Lamattina, Gustavo Pacheco-Rodriguez, Mario Stylianou, Pranav Kidambi, Benjamin Stump, Fernanda Golzarri, Ivan O Rosas, Carmen Priolo, Elizabeth P Henske, Joel Moss, Souheil El-Chemaly
Somatic or germline mutations in the tuberous sclerosis complex (TSC) tumor suppressor genes are associated closely with the pathogenesis of lymphangioleiomyomatosis (LAM), a rare and progressive neoplastic disease that predominantly affects women in their childbearing years. Serum levels of the lymphangiogeneic growth factor VEGF-D are elevated significantly in LAM. However, there are gaps in knowledge regarding VEGF-D dysregulation and its cellular origin in LAM. Here we show that increased expression and activation of the tyrosine kinase Syk in TSC2-deficient cells and pulmonary nodules from LAM patients contributes to tumor growth...
February 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28192114/sirolimus-and-autophagy-inhibition-in-lam-results-of-a-phase-i-clinical-trial
#2
Souheil El-Chemaly, Angelo Taveira-Dasilva, Hilary J Goldberg, Elizabeth Peters, Mary Haughey, Don Bienfang, Amanda M Jones, Patricia Julien-Williams, Ye Cui, Julian A Villalba, Shefali Bagwe, Rie Maurer, Ivan O Rosas, Joel Moss, Elizabeth P Henske
BACKGROUND: Animal and cellular studies support the importance of autophagy inhibition in lymphangioleiomyomatosis (LAM). In a cohort of subjects with LAM, we tested the hypothesis that treatment with sirolimus and hydroxycholoroquine (an autophagy inhibitor) at 2 different dose levels is safe and well tolerated. Secondary endpoints included changes in lung function. METHODS: This 48-week, two-center Phase I trial evaluated the safety of escalating oral hydroxychloroquine doses (100-200 mg) given twice a day in combination with sirolimus to eligible patients ≥18 years old with LAM...
February 10, 2017: Chest
https://www.readbyqxmd.com/read/28149746/multifocal-micronodular-pneumocyte-hyperplasia-mmph-in-a-patient-with-tuberous-sclerosis-evidence-for-long-term-stability
#3
Bibek S Pannu, Dinesh R Apala, Aditya Kotecha, Jennifer M Boland, Vivek N Iyer
Multifocal micronodular pneumocyte hyperplasia (MMPH) is rare entity seen mostly in patients with the tuberous sclerosis complex (TSC). We present the case of a 50 year old woman with TSC (confirmed TSC2 mutation) found to have multiple ground glass opacities with an upper lobe predominance on a screening chest CT. No abnormalities were detected in other viscera. A thoracoscopic lung biopsy obtained from right upper lobe confirmed the diagnosis of MMPH. There were no lesions suggestive of lymphangioleiomyomatosis (LAM) either on the chest CT or lung biopsy...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28132530/computed-tomography-lymphangiography-findings-in-27-cases-of-lymphangioleiomyomatosis
#4
Chunyan Zhang, Xiaobai Chen, Tingguo Wen, Qijin Zhang, Meng Huo, Jian Dong, Wen-Bin Shen, Rengui Wang
Background Lymphangioleiomyomatosis (LAM) is a rare disease involving the bronchi, lymphatic vessels, and veins. However, there are few reports about lymphatic vessel abnormalities associated with LAM. Purpose To evaluate computed tomography (CT) lymphangiography findings in cases of LAM, especially lymphatic vessel abnormalities. Material and Methods Twenty-seven patients with LAM underwent direct lymphangiography (DLG), followed by a post-procedural thoracoabdominal CT examination. Results All 27 patients were diagnosed with LAM, including 25 (93%) with chylothorax, eight (30%) with chyloperitoneum, seven (26%) with chylous fluid in the chest and abdomen, and one (4%) with lower-limb lymphedema...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28099079/lymphangioleiomyomatosis-a-monogenic-model-of-malignancy
#5
Vera P Krymskaya, Francis X McCormack
Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express smooth-muscle and melanocyte-lineage markers, harbor mTOR-activating mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells. Elaboration of lymphangiogenic growth factors and matrix remodeling enzymes by LAM cells enables their access to lymphatic channels and likely drives the cystic lung remodeling that often culminates in respiratory failure...
January 14, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/28096282/the-effect-of-mtor-inhibitors-on-respiratory-infections-in-lymphangioleiomyomatosis
#6
REVIEW
Andrew M Courtwright, Hilary J Goldberg, Elizabeth Petri Henske, Souheil El-Chemaly
Lymphangioleiomyomatosis (LAM) is a destructive cystic lung disease. Mammalian target of rapamycin (mTOR) inhibitors are the primary treatment for LAM but it is unknown whether these immunosuppressing medications increase the risk for or the severity of respiratory infections in LAM patients.We searched multiple databases for original articles that reported the rate of respiratory infections in LAM patients treated with mTOR inhibitors or placebo. We calculated incidence rates for respiratory infections in these groups and incidence rate ratios for respiratory infections and severe respiratory infections in mTOR inhibitors treated versus placebo treated patients...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#7
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28005429/mammalian-target-of-rapamycin-a-target-for-lung-diseases-and-aging
#8
Brian K Kennedy, Juniper K Pennypacker
The mammalian target of rapamycin (mTOR) signaling pathway has been studied in the context of an impressive number of biological processes and disease states, including major diseases of the lung such as idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease, as well as the rare condition lymphangioleiomyomatosis. The involvement of mTOR in so many disease states (in and out of the lung) raises the question how one signaling pathway can have overlapping but diverse roles seemingly everywhere...
December 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27986407/lung-cancer-in-a-patient-with-lymphangioleiomyomatosis
#9
Luis Gorospe Sarasúa, Edwin Mercedes-Noboa, María Eugenia Olmedo-García
No abstract text is available yet for this article.
December 13, 2016: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/27938553/-research-advances-on-animal-models-of-tuberous-sclerosis-and-lymphangioleiomyomatosis
#10
(no author information available yet)
No abstract text is available yet for this article.
December 12, 2016: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/27935023/causes-of-mortality-in-individuals-with-tuberous-sclerosis-complex
#11
Sam Amin, Andrew Lux, Nuala Calder, Matthew Laugharne, John Osborne, Finbar O'callaghan
AIM: The causes of death in patients with tuberous sclerosis complex (TSC) have rarely been studied, with only one published account, which was reported from the Mayo Clinic in 1991. We aimed to investigate mortality in a large cohort of patients with TSC from one of two national referral clinics in the UK. METHOD: We identified 284 patients who attended Bath TSC clinic between 1981 and 2015, and ascertained causes of death by reviewing medical records, death certificates, and postmortem reports...
December 9, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27907099/analysis-of-a-mouse-skin-model-of-tuberous-sclerosis-complex
#12
Yanan Guo, John R Dreier, Juxiang Cao, Heng Du, Scott R Granter, David J Kwiatkowski
Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosis. It is due to inactivating mutations in TSC1 or TSC2. We sought to generate a mouse model of one or more of these tumor types by targeting deletion of the Tsc1 gene to fibroblasts using the Fsp-Cre allele. Mutant, Tsc1ccFsp-Cre+ mice survived a median of nearly a year, and developed tumors in multiple sites but did not develop angiomyolipoma or lymphangioleiomyomatosis...
2016: PloS One
https://www.readbyqxmd.com/read/27882343/proapoptotic-protein-bim-attenuates-estrogen-enhanced-survival-in-lymphangioleiomyomatosis
#13
Chenggang Li, Na Li, Xiaolei Liu, Erik Y Zhang, Yang Sun, Kouhei Masuda, Jing Li, Julia Sun, Tasha Morrison, Xiangke Li, Yuanguang Chen, Jiang Wang, Nagla A Karim, Yi Zhang, John Blenis, Mauricio J Reginato, Elizabeth P Henske, Jane J Yu
Lymphangioleiomyomatosis (LAM) is a progressive lung disease that primarily affects young women. Genetic evidence suggests that LAM cells bearing TSC2 mutations migrate to the lungs, proliferate, and cause cystic remodeling. The female predominance indicates that estrogen plays a critical role in LAM pathogenesis, and we have proposed that estrogen promotes LAM cell metastasis by inhibition of anoikis. We report here that estrogen increased LAM patient-derived cells' resistance to anoikis in vitro, accompanied by decreased accumulation of the proapoptotic protein Bim, an activator of anoikis...
November 17, 2016: JCI Insight
https://www.readbyqxmd.com/read/27833825/epidemiology-pathogenesis-and-diagnosis-of-lymphangioleiomyomatosis
#14
Angelo M Taveira-DaSilva, Joel Moss
INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a disease of women characterized by cystic lung destruction, lymphatic involvement, and renal angiomyolipomas. AREAS COVERED: LAM is caused by proliferation of abnormal smooth muscle-like LAM cells containing mutations and perhaps epigenetic modifications of the TSC1 or TSC2 genes, which encode, respectively, hamartin and tuberin, two proteins controlling the mechanistic target of rapamycin (mTOR) signaling pathway...
2016: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/27737563/chest-computed-tomographic-image-screening-for-cystic-lung-diseases-in-patients-with-spontaneous-pneumothorax-is-cost-effective
#15
Nishant Gupta, Dale Langenderfer, Francis X McCormack, Daniel P Schauer, Mark H Eckman
RATIONALE: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as having primary spontaneous pneumothorax. However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) chest imaging has implications for subsequent management...
January 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27734028/nk-cell-activating-receptor-ligand-expression-in-lymphangioleiomyomatosis-is-associated-with-lung-function-decline
#16
Andrew R Osterburg, Rebecca L Nelson, Benyamin Z Yaniv, Rachel Foot, Walter R F Donica, Madison A Nashu, Huan Liu, Kathryn A Wikenheiser-Brokamp, Joel Moss, Nishant Gupta, Francis X McCormack, Michael T Borchers
Lymphangioleiomyomatosis (LAM) is a rare lung disease of women that leads to progressive cyst formation and accelerated loss of pulmonary function. Neoplastic smooth muscle cells from an unknown source metastasize to the lung and drive destructive remodeling. Given the role of NK cells in immune surveillance, we postulated that NK cell activating receptors and their cognate ligands are involved in LAM pathogenesis. We found that ligands for the NKG2D activating receptor UL-16 binding protein 2 (ULBP2) and ULBP3 are localized in cystic LAM lesions and pulmonary nodules...
October 6, 2016: JCI Insight
https://www.readbyqxmd.com/read/27730199/understanding-the-priorities-for-women-diagnosed-with-lymphangioleiomyomatosis-a-patient-perspective
#17
Iris Bassi, Gill Hollis, Vincent Cottin, Sergio Harari, Elma Zwanenburg, Marcel Veltkamp, Alvaro Casanova, Monica Fletcher, Sarah Masefield, Pippa Powell, Jeanette Boyd
Lymphangioleiomyomatosis (LAM) is a rare lung disease that almost exclusively affects women and develops in about one in 400 000 adult females. The European Lung Foundation worked closely with one of the patient organisations within its network, the European LAM Federation, to raise awareness of LAM at the 2014 European Respiratory Society International Congress in Munich, Germany. In addition, an invitation-only workshop with 45 individuals from 13 countries was held to discuss the priorities for women in Europe living with the disease...
April 2016: ERJ Open Research
https://www.readbyqxmd.com/read/27685095/-sporadic-lymphangioleiomyomatosis-slam-and-tuberous-sclerosis-complex-tsc-pulmonary-manifestations
#18
S Brakemeier, C Grohé, F Bachmann, K Budde
No abstract text is available yet for this article.
February 2017: Pneumologie
https://www.readbyqxmd.com/read/27628078/official-american-thoracic-society-japanese-respiratory-society-clinical-practice-guidelines-lymphangioleiomyomatosis-diagnosis-and-management
#19
Francis X McCormack, Nishant Gupta, Geraldine R Finlay, Lisa R Young, Angelo M Taveira-DaSilva, Connie G Glasgow, Wendy K Steagall, Simon R Johnson, Steven A Sahn, Jay H Ryu, Charlie Strange, Kuniaki Seyama, Eugene J Sullivan, Robert M Kotloff, Gregory P Downey, Jeffrey T Chapman, MeiLan K Han, Jeanine M D'Armiento, Yoshikazu Inoue, Elizabeth P Henske, John J Bissler, Thomas V Colby, Brent W Kinder, Kathryn A Wikenheiser-Brokamp, Kevin K Brown, Jean F Cordier, Cristopher Meyer, Vincent Cottin, Jan L Brozek, Karen Smith, Kevin C Wilson, Joel Moss
BACKGROUND: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that primarily affects women. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of LAM. METHODS: Systematic reviews were performed to summarize evidence pertinent to our questions. The evidence was summarized and discussed by a multidisciplinary panel. Evidence-based recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation approach...
September 15, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27592585/-diagnosis-and-treatment-for-2-cases-of-tuberous-sclerosis-complex-with-pulmonary-lymphangioleiomyomatosis
#20
Dandan Zong, Caihong Liu, Zhihui Shi, Li Zhou, Yating Peng, Ruoyun Ouyang
To improve the diagnosis and treatment for tuberous sclerosis complex (TSC) with pulmonary lymphangioleiomyomatosis, a retrospective analysis was performed based on the clinical data of 2 patients with such disease. Both of them have typical thin-walled cystic lesion throughout the lung field, renal angioleiomyolipoma, and various degrees of skin lesions. Central nervous system is involved in one patient. Lesions in the lung and kidney in one patient were improved significantly after 5 months of rapamycin treatment...
July 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
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