1,794 results match your criteria Lymphangioleiomyomatosis


Single Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell.

Am J Respir Crit Care Med 2020 Jun 30. Epub 2020 Jun 30.

Cincinnati Children's Hospital Medical Center, 2518, Cincinnati, Ohio, United States;

Rationale: Lymphangioleiomyomatosis (LAM) is a metastatic neoplasm of reproductive age women associated with mutations in tuberous sclerosis complex (TSC) genes. LAM causes cystic remodeling of the lung and progressive respiratory failure. The sources and cellular characteristics of LAM cells underlying disease pathogenesis remain elusive. Read More

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http://dx.doi.org/10.1164/rccm.201912-2445OCDOI Listing

Fat-poor renal angiomyolipoma combined with pseudoaneurysm: a case report.

Ann Palliat Med 2020 Jun 3. Epub 2020 Jun 3.

Department of Abdominal Ultrasound, the Affiliated Hospital of Qingdao University, Qingdao 266000, China.

Renal angiomyolipoma (RAML), a rare benign mesenchymal tumor, consists of variable proportions of thick-walled blood vessels admixed with adipose tissue and bundles of smooth muscle. Rarely, RAML angiomyolipoma may be associated with pseudoaneurysm, spontaneous rupture and hemorrhage. we herein present an exceptional case of fat-poor RAML containing a large pseudoaneurysm in a 48-yearold woman with known pulmonary lymphangioleiomyomatosis (PLAM), who was admitted to hospital due to right flank pain for about two months. Read More

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http://dx.doi.org/10.21037/apm-20-475DOI Listing

Refractory chylous effusions in lymphangioleiomyomatosis patient post lung transplant.

SAGE Open Med Case Rep 2020 6;8:2050313X20921332. Epub 2020 May 6.

Department of Transplantation, Mayo Clinic, Jacksonville, FL, USA.

Lymphangioleiomyomatosis is a rare systemic disorder of unknown etiology that affects young women almost exclusively. Chylous effusions are known to be associated with lymphangioleiomyomatosis and may be difficult to treat. We present the case of a 37-year-old female who received bilateral lung transplantation for lymphangioleiomyomatosis complicated by refractory chylothorax and chylous ascites, ultimately controlled through repeated, open surgical procedures and percutaneous lymphatic embolization interventions. Read More

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http://dx.doi.org/10.1177/2050313X20921332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7233883PMC

Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis.

Respir Med 2020 Jul 28;168:105993. Epub 2020 Apr 28.

Divisao de Pneumologia, Instituto Do Coracao (InCor), Hospital Das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil. Electronic address:

Lymphangioleiomyiomatosis (LAM) is a rare disease affecting women in childbearing age. A sporadic form (S-LAM) affecting previously healthy women, and a form associated with Tuberous Sclerosis Complex (TSC-LAM) are described. Some data suggested that TSC-LAM could be a milder disease compared to S-LAM. Read More

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http://dx.doi.org/10.1016/j.rmed.2020.105993DOI Listing

Sphingolipid, fatty acid and phospholipid metabolites are associated with disease severity and mTOR inhibition in lymphangioleiomyomatosis.

Thorax 2020 May 28. Epub 2020 May 28.

Division of Respiratory Medicine, NIHR Biomedical Research Centre, Biodiscovery Institute and Nottingham Molecular Pathology Node, University of Nottingham, Nottingham, UK

Background: Lymphangioleiomyomatosis (LAM) is a rare multisystem disease almost exclusively affecting women which causes loss of lung function, lymphatic abnormalities and angiomyolipomas. LAM occurs sporadically and in people with tuberous sclerosis complex (TSC). Loss of gene function leads to dysregulated mechanistic target of rapamycin (mTOR) signalling. Read More

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http://dx.doi.org/10.1136/thoraxjnl-2019-214241DOI Listing

Does a gender have something to do with clinical pictures of primary spontaneous pneumothorax?

Gen Thorac Cardiovasc Surg 2020 May 27. Epub 2020 May 27.

Division of Respiratory Medicine, Faculty of Medicine, Graduate School of Medicine, Juntendo University, Tokyo, Japan.

Objective: Primary spontaneous pneumothorax is relatively rarer in women than in men. In addition, women develop secondary spontaneous pneumothorax, such as lymphangioleiomyomatosis, which is rare and difficult to diagnose. Therefore, the clinical characteristics of primary spontaneous pneumothorax in women remain unknown presently. Read More

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http://dx.doi.org/10.1007/s11748-020-01388-1DOI Listing

Transbronchial lung biopsy for the diagnosis of lymphangioleiomyomatosis: the severity of cystic lung destruction assessed by the modified Goddard scoring system as a predictor for establishing the diagnosis.

Orphanet J Rare Dis 2020 May 26;15(1):125. Epub 2020 May 26.

Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, Japan.

Background: A guide of patient selection for establishing the diagnosis of lymphangioleiomyomatosis (LAM) by transbronchial lung biopsy (TBLB) has not been established, although the pathological confirmation of LAM by lung biopsy is desirable, particularly when patients have no additional test results except typical findings of computed tomography (CT) of the chest.

Methods: We retrospectively reviewed the medical records of LAM patients who visited at our hospital from January 2010 to September 2018. We found 19 patients who underwent TBLB and collected the following data to investigate which parameters could predict the TBLB diagnostic positivity for LAM: age, degree of exertional dyspnea, pulmonary function test, cystic lung destruction visually assessed by the modified Goddard scoring system (MGS), serum level of vascular endothelial growth factor-D, and TBLB-related data. Read More

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http://dx.doi.org/10.1186/s13023-020-01409-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249378PMC

Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex.

J Med Genet 2020 May 14. Epub 2020 May 14.

Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines.

Objectives: Our study aimed to give a complete description of our TSC adult cohort and to evaluate the multidisciplinary and interdisciplinary management model. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106607DOI Listing

Therapeutic Targeting of the Secreted Lysophospholipase D Autotaxin Suppresses Tuberous Sclerosis Complex-Associated Tumorigenesis.

Cancer Res 2020 Jul 11;80(13):2751-2763. Epub 2020 May 11.

Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by multiorgan hamartomas, including renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM). TSC2 deficiency leads to hyperactivation of mTOR Complex 1 (mTORC1), a master regulator of cell growth and metabolism. Phospholipid metabolism is dysregulated upon TSC2 loss, causing enhanced production of lysophosphatidylcholine (LPC) species by TSC2-deficient tumor cells. Read More

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http://dx.doi.org/10.1158/0008-5472.CAN-19-2884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335343PMC

High Mobility Group AT-Hook 2 (HMGA2) Oncogenicity in Mesenchymal and Epithelial Neoplasia.

Int J Mol Sci 2020 Apr 29;21(9). Epub 2020 Apr 29.

Department of Anesthesiology, Columbia University Medical Center, 630 West 168th Street, P&S 12-402, New York, NY 10032, USA.

High mobility group AT-hook 2 (HMGA2) has been associated with increased cell proliferation and cell cycle dysregulation, leading to the ontogeny of varied tumor types and their metastatic potentials, a frequently used index of disease prognosis. In this review, we deepen our understanding of HMGA2 pathogenicity by exploring the mechanisms by which HMGA2 misexpression and ectopic expression induces mesenchymal and epithelial tumorigenesis respectively and distinguish the pathogenesis of benign from malignant mesenchymal tumors. Importantly, we highlight the regulatory role of microRNA family of tumor suppressors in determining HMGA2 misexpression events leading to tumor pathogenesis and focused on possible mechanisms by which HMGA2 could propagate lymphangioleiomyomatosis (LAM), benign mesenchymal tumors of the lungs. Read More

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http://dx.doi.org/10.3390/ijms21093151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246488PMC

Evolution of lung pathology in lymphangioleiomyomatosis: associations with disease course and treatment response.

J Pathol Clin Res 2020 Apr 30. Epub 2020 Apr 30.

Division of Respiratory Medicine, NIHR Biomedical Research Centre, London, UK.

Lymphangioleiomyomatosis (LAM) is a rare multisystem disease with a variable clinical course. The lungs are infiltrated by nodules of LAM cells, stromal cells and inflammatory cells, causing lung cysts and respiratory failure. We used immunohistochemical markers in lung biopsy and transplant samples from a national cohort of women with LAM with linked clinical data to understand how LAM nodule cell populations changed with disease progression. Read More

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http://dx.doi.org/10.1002/cjp2.162DOI Listing

Development of a precise quantitative method for monitoring sirolimus in whole blood using LC/ESI-MS/MS.

Biomed Chromatogr 2020 Apr 17:e4853. Epub 2020 Apr 17.

Faculty of Pharmaceutical Sciences, Tohoku University, Sendai, Japan.

Sirolimus is used on patients after solid organ transplantation and on lymphangioleiomyomatosis (LAM) patients, and therapeutic drug monitoring is required in clinical practice. We have previously reported an accurate method for quantitative determination of sirolimus, but its sample preparation step was complicated. In this study, we developed a modified liquid chromatography/electrospray ionization tandem mass spectrometry (LC/ESI-MS/MS) method for sirolimus quantification. Read More

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http://dx.doi.org/10.1002/bmc.4853DOI Listing

Lymphangioleiomyomatosis.

Semin Respir Crit Care Med 2020 Apr 12;41(2):256-268. Epub 2020 Apr 12.

Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China.

Lymphangioleiomyomatosis (LAM) is a slow albeit progressive rare neoplastic disease featured with diffuse thin-walled cysts in lungs and angiomyolipomas in kidneys. LAM affects almost exclusively women and has one of the strongest gender predispositions of any extragenital human disease. Two forms of LAM present clinically, sporadic (S-LAM) and tuberous sclerosis complex-associated (TSC-LAM). Read More

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http://dx.doi.org/10.1055/s-0040-1702195DOI Listing

Pulmonary Lymphangioleiomyomatosis originates in the pleural mesothelial cell population.

Med Hypotheses 2020 Aug 31;141:109703. Epub 2020 Mar 31.

Division of Respiratory Medicine, University of Nottingham Biodiscovery Institute, University Park, Nottingham NG7 2RD, UK; National Centre for Lymphangioleiomyomatosis, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham NG7 2UH, UK.

Lymphangioleiomyomatosis (LAM) is a cystic lung disease mainly affecting women, in which degradation of the lung parenchyma is associated with a cell of unknown provenance, known as a LAM cell. LAM cells carry TSC2 mutations and can be identified in the lung parenchyma by their expression of both smooth muscle actin and antigens characteristic of melanocytes and melanocytic tumors. The nature of the cell-of-origin of LAM is controversial, and despite continued research effort remains elusive. Read More

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http://dx.doi.org/10.1016/j.mehy.2020.109703DOI Listing

Diagnostic usefulness of transbronchial lung cryobiopsy in two patients mildly affected with pulmonary lymphangioleiomyomatosis.

Respir Investig 2020 Jul 4;58(4):295-299. Epub 2020 Apr 4.

Department of Respiratory Medicine, Japanese Red Cross Medical Center, 4-1-22 Hiroo, Shibuya-ku, Tokyo, 150-8935, Japan. Electronic address:

Transbronchial lung biopsy is a non-invasive technique used primarily for the pathological diagnosis of lymphangioleiomyomatosis (LAM). However, some cases, particularly those with early-stage lung lesions, are difficult to diagnose because of the specimen size and presence of artifacts. Herein, we present two cases of LAM with relatively mild cystic changes in the lungs and slight impairment seen in pulmonary function tests. Read More

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http://dx.doi.org/10.1016/j.resinv.2020.02.005DOI Listing

A case of lymphangioleiomyomatosis with diffuse large B-cell lymphoma: Usefulness of FDG-PET.

Respir Med Case Rep 2020 16;29:100999. Epub 2020 Jan 16.

Department of Respiratory Medicine, Tokyo Women's Medical University, Japan.

Lymphangioleiomyomatosis (LAM) is characterized by cystic lung disease, abdominal tumor and involvement of the axial lymph nodes. We report a very rare case of LAM with malignant lymphoma. A 51-year-old female had medical history of recurrent pneumothorax and nephrectomy for a left renal angiomyolipoma and was diagnosed with LAM by video-assisted thoracoscopic surgery at the age of 30. Read More

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http://dx.doi.org/10.1016/j.rmcr.2020.100999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118407PMC
January 2020

Primary Abdominal Lymphangioleiomyomatosis with Mucosa-Associated Lymphoid Tissue Lymphoma.

J Gastrointest Surg 2020 Apr 6. Epub 2020 Apr 6.

Department of Vascular Surgery, West China Hospital, Sichuan University, Chengdu, China.

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http://dx.doi.org/10.1007/s11605-020-04584-9DOI Listing

Rare association: sporadic lymphangioleiomyomatosis and Pi-SZ alpha-1-antitrypsin deficiency.

BMJ Case Rep 2020 Apr 1;13(4). Epub 2020 Apr 1.

Pulmonary and Critical Care Medicine, University of South Florida, Tampa, Florida, USA.

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http://dx.doi.org/10.1136/bcr-2019-233724DOI Listing

Tuberous Sclerosis Complex: A review of the past, present and future.

Turk J Med Sci 2020 03 28. Epub 2020 Mar 28.

Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in several organs. With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. Read More

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http://dx.doi.org/10.3906/sag-2002-133DOI Listing

Fatal Hemoptysis Due to Endobronchial Aspergilloma in the Hyperinflated Native Lung after Single-Lung Transplantation for Lymphangioleiomyomatosis: A Case Report.

Kobe J Med Sci 2020 Jan 20;65(4):E114-E117. Epub 2020 Jan 20.

Division of Respiratory Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.

Pulmonary lymphangioleiomyomatosis accounts for the majority of cadaveric lung transplantation cases. Post-transplantation management is continuingly necessary not only to prevent the progression of LAM but also to address complications. A woman with lymphangioleiomyomatosis underwent cadaveric lung transplantation. Read More

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January 2020

Effects of yoga on exercise capacity in patients with lymphangioleiomyomatosis: a nonrandomized controlled study.

Orphanet J Rare Dis 2020 Mar 16;15(1):72. Epub 2020 Mar 16.

Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100730, China.

Objective: To evaluate the effects of yoga on exercise capacity and quality of life in patients with lymphangioleiomyomatosis (LAM), a rare cystic lung disease in women.

Patients And Methods: This was a nonrandomized, controlled study conducted in Beijing, China (August 27, 2017 - April 26, 2018). Twenty-six participants were allocated to the intervention (yoga) group (n = 13) or control group (n = 13). Read More

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http://dx.doi.org/10.1186/s13023-020-1344-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7075042PMC

Unconventional Estrogen Signaling in Health and Disease.

Endocrinology 2020 Apr;161(4)

Department of Cell Biology and Anatomy, New York Medical College, Valhalla, NY.

Estrogen is a key hormone involved in the development and homeostasis of several tissue types in both males and females. By binding estrogen receptors, estrogen regulates essential functions of gene expression, metabolism, cell growth, and proliferation by acting through cytoplasmic signaling pathways or activating transcription in the nucleus. However, disruption or dysregulation of estrogen activity has been shown to play a key role in the pathogenesis and progression of many diseases. Read More

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http://dx.doi.org/10.1210/endocr/bqaa030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7101056PMC

A phase II clinical trial of the Safety Of Simvastatin (SOS) in patients with pulmonary lymphangioleiomyomatosis and with tuberous sclerosis complex.

Respir Med 2020 Mar 8;163:105898. Epub 2020 Feb 8.

Pulmonary, Allergy and Critical Care Division, Department of Medicine, Perelman School of Medicine, Philadelphia, PA, USA. Electronic address:

Inroduction: The mechanistic target of rapamycin inhibitors (mTORi) sirolimus and everolimus stabilize lung function in patients with pulmonary lymphangioleiomyomatosis (LAM) but do not induce remission. Pre-clinical studies suggest that simvastatin in combination with sirolimus induces LAM cell death. The objective of this study was to assess the safety of simvastatin with either sirolimus or everolimus in LAM patients. Read More

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http://dx.doi.org/10.1016/j.rmed.2020.105898DOI Listing

Quantitative analysis of airway obstruction in lymphangioleiomyomatosis.

Eur Respir J 2020 Jul 2;56(1). Epub 2020 Jul 2.

Respiratory Diseases, Dept of Chronic Diseases, Metabolism and Aging, KU Leuven, Leuven, Belgium.

Lymphangioleiomyomatosis (LAM) is a rare, cystic lung disease with progressive pulmonary function loss caused by progressively proliferating LAM cells. The degree of airway obstruction has not been well investigated within the pathogenesis of LAM.Using a combination of computed tomography (CT), microCT and histology, the site and nature of airway obstruction in LAM explant lungs was compared with matched control lungs (n=5 each). Read More

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http://dx.doi.org/10.1183/13993003.01965-2019DOI Listing

"T"eeing Up A Novel Therapy for Lymphangioleiomyomatosis.

Am J Respir Cell Mol Biol 2020 Jun;62(6):678-680

Brigham and Women's HospitalHarvard Medical SchoolBoston, Massachusetts.

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http://dx.doi.org/10.1165/rcmb.2020-0049EDDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7258823PMC

Estrogen activates pyruvate kinase M2 and increases the growth of TSC2-deficient cells.

PLoS One 2020 20;15(2):e0228894. Epub 2020 Feb 20.

University of Cincinnati College of Medicine, Department of Internal Medicine, Cincinnati, OH, United States of America.

Lymphangioleiomyomatosis (LAM) is a devastating lung disease caused by inactivating gene mutations in either TSC1 or TSC2 that result in hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1). As LAM occurs predominantly in women during their reproductive age and is exacerbated by pregnancy, the female hormonal environment, and in particular estrogen, is implicated in LAM pathogenesis and progression. However, detailed underlying molecular mechanisms are not well understood. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0228894PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7032738PMC
May 2020
3.234 Impact Factor

Adoptive T-Cell Transfer to Treat Lymphangioleiomyomatosis.

Am J Respir Cell Mol Biol 2020 Jun;62(6):793-804

Lurie Comprehensive Cancer Center.

Patients with lymphangioleiomyomatosis (LAM) develop pulmonary cysts associated with neoplastic, smooth muscle-like cells that feature neuroendocrine cell markers. The disease preferentially affects premenopausal women. Existing therapeutics do not cure LAM. Read More

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http://dx.doi.org/10.1165/rcmb.2019-0117OCDOI Listing

Quantitative analysis of computed tomography of the lungs in patients with lymphangioleiomyomatosis treated with sirolimus.

Heliyon 2020 Feb 6;6(2):e03345. Epub 2020 Feb 6.

Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Hongo 3-1-3, Bunkyo-Ku, Tokyo 113-8421, Japan.

Objectives: We aimed to study sirolimus-related lung parenchymal changes by quantitative analysis of computed tomography (CT) of the lungs in patients with lymphangioleiomyomatosis (LAM).

Methods: We studied 20 participants from the Multicenter Lymphangioleiomyomatosis Sirolimus Trial for Safety study, who had undergone both thin-section CT scans and pulmonary function tests at baseline, 12, and 24 months. Quantitative CT parameters such as CT-derived total lung capacity, percentage of low attenuation area (LAA%), lung density histogram, fractal property of low attenuation area, and airway dimensions were analyzed, and correlations were conducted between the longitudinal change in each quantitative CT measurement and changes in pulmonary function were examined. Read More

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http://dx.doi.org/10.1016/j.heliyon.2020.e03345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011043PMC
February 2020

Zoledronic acid inhibits TSC2-null cell tumor growth via RhoA/YAP signaling pathway in mouse models of lymphangioleiomyomatosis.

Cancer Cell Int 2020 10;20:46. Epub 2020 Feb 10.

1Core Laboratory, Sir Run Run Hospital, Nanjing Medical University, Nanjing, 211166 Jiangsu China.

Background: This study is to investigate the effects of zoledronic acid (ZA) on TSC2-null cell proliferation and on the tumor progression and recurrence in mouse models of lymphangioleiomyomatosis (LAM).

Methods: Subcutaneous mouse models and LAM mouse models were established. Immunohistochemistry and immunofluorescence were performed to detect the protein expression levels. Read More

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http://dx.doi.org/10.1186/s12935-020-1131-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011352PMC
February 2020
1.989 Impact Factor

Lessons on lymphangioleiomyomatosis: positivity and possibilities.

Authors:
Stephanie Dreyer

Lancet Respir Med 2020 Jun 11;8(6):558-560. Epub 2020 Feb 11.

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http://dx.doi.org/10.1016/S2213-2600(20)30068-0DOI Listing

The efficacy and safety of pharmacological treatments for lymphangioleiomyomatosis.

Respir Res 2020 Feb 14;21(1):55. Epub 2020 Feb 14.

Division of Oncology, Department of Pediatric Surgery, West China Hospital of Sichuan University, #37# Guo-Xue-Xiang, Chengdu, 610041, China.

Background: Lymphangioleiomyomatosis (LAM) is a rare, low-grade multisystem neoplastic disease. Most LAM patients are at a high risk of losing lung function at an accelerated rate and developing progressive dyspnea. Recently, several studies have reported their experience with pharmacological treatments for LAM. Read More

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http://dx.doi.org/10.1186/s12931-020-1316-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023761PMC
February 2020

Neutrophil elastase from myeloid cells promotes TSC2-null tumor growth.

Endocr Relat Cancer 2020 Feb 1. Epub 2020 Feb 1.

S Hammes, Medicine, University of Rochester Medical Center , Rochester, 14642, United States.

Chronic inflammation promotes progression of many cancers, with circulating myeloid-derived suppressor cell (MDSC) levels correlating with poor prognosis. Here we examine effects of MDSCs on lymphangioleiomyomatosis (LAM), a rare disease occurring almost exclusively in women whereby estrogen-sensitive metastatic TSC2-null tumors grow throughout the lungs, markedly reducing pulmonary function. The LAM cell origin remains unknown; however, previous work demonstrated that Tsc2 inactivation in the mouse uterus induced estrogen-dependent myometrial tumors with nearly all features of LAM. Read More

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http://dx.doi.org/10.1530/ERC-19-0431DOI Listing
February 2020

Pulmonary Cystic Disease and Its Mimics.

Authors:
Kirk D Jones

Surg Pathol Clin 2020 Mar;13(1):141-163

Department of Pathology, University of California San Francisco, 505 Parnassus Avenue, Room M565, San Francisco, CA 94143, USA. Electronic address:

Cystic diseases of the lung encompass a fairly broad variety of different diseases with causes including genetic abnormalities, smoking-related problems, developmental disorders, malignant neoplasms, and inflammatory processes. In addition, there are several diagnoses that closely resemble cystic lung disease, including cavitary diseases, cystic bronchiectasis, emphysema, and cystic changes in fibrosing interstitial lung disease. This article provides a review of cystic lung disease and its gross and histologic mimics. Read More

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http://dx.doi.org/10.1016/j.path.2019.11.007DOI Listing

A histopathologic diagnosis of brain lymphangiomyoma, clinically misdiagnosed as simple angiomyxoma: case report.

Int J Clin Exp Pathol 2019 1;12(7):2753-2757. Epub 2019 Jul 1.

Department of Neurosurgery, The First Affiliated Hospital of Xinjiang Medical University 137 Liyushannan Road, Urumqi 830054, Xinjiang, China.

Introduction: Lymphangioleiomyomatosis (LAM) is a rare disease which affects women of reproductive age almost exclusively as one of the most gender-specific diseases, and which can occur at any site in the body but most commonly in the lungs. Here we report a rare case of recurrent brain lymphangiomyoma which was misdiagnosed as angiomyxoma.

Case Presentation: A 28-year-old male complained of finding a recurrent mass at the right temporal lobe of his brain for the last 4 months. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949541PMC

Pulmonary lymphangioleiomyomatosis: a case report.

Int J Clin Exp Pathol 2019 1;12(2):674-677. Epub 2019 Feb 1.

Department of Pathology, Tongde Hospital of Zhejiang Province Hangzhou, Zhejiang, P. R. China.

Pulmonary lymphangioleiomyomatosis is a rare disease that presents with diffuse progressive destruction of the pulmonary parenchyma. The incidence is less than 1 per million. No effective treatments are currently proposed for this disease. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945093PMC
February 2019

Lymphangioleiomyomatosis revealed by Ga-NOTA-Evans Blue PET/CT.

Eur J Nucl Med Mol Imaging 2020 Jan 10. Epub 2020 Jan 10.

Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.

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http://dx.doi.org/10.1007/s00259-020-04685-2DOI Listing
January 2020

Cannabidiol Elevates Mechanistic Target of Rapamycin Inhibitor Levels in Patients With Tuberous Sclerosis Complex.

Pediatr Neurol 2020 04 9;105:59-61. Epub 2019 Dec 9.

Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:

Background: The mechanistic target of rapamycin inhibitors everolimus and sirolimus have activity against multiple manifestations of tuberous sclerosis complex and are approved to treat astrocytomas, angiomyolipomas, lymphangioleiomyomatosis, and epilepsy. Cannabidiol is a novel antiepileptic medication. There is lack of information regarding drug-drug interactions between mechanistic target of rapamycin inhibitors and cannabidiol in clinical practice. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.11.017DOI Listing

The pleura and the endocrine system.

Eur J Intern Med 2020 Feb 7;72:34-37. Epub 2020 Jan 7.

Division of Pulmonary, Critical Care, and Sleep Medicine, Johns Hopkins Hospital, USA.

The functioning of the pleura and the endocrine system are not entirely independent of each other. Some hormones can reach a greater concentration in the pleural exudate than in the blood. However, the clinical significance of this finding remains unknown. Read More

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http://dx.doi.org/10.1016/j.ejim.2019.12.034DOI Listing
February 2020
2.300 Impact Factor

[A Case of Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus Associated with Tuberous Sclerosis Complex Diagnosed by Intra-Abdominal Bleeding from the Uterus].

Hinyokika Kiyo 2019 Nov;65(11):479-484

The Department of Obstetrics and Gynecology, Osaka University Graduate School of Medicine.

We report a case of perivascular epithelioid cell tumor (PEComa) of the uterus associated with tuberous sclerosis complex discovered as a result of intraabdominal bleeding. A 54-year-old woman visited the department of obstetrics and gynecology with chief complaints of genital bleeding and abdominal pain lasting three weeks. Abdominal computed tomography (CT) revealed intraabdominal bleeding from the uterine corpus. Read More

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http://dx.doi.org/10.14989/ActaUrolJap_65_11_479DOI Listing
November 2019

Inhibition of Growth of TSC2-Null Cells by a PI3K/mTOR Inhibitor but Not by a Selective MNK1/2 Inhibitor.

Biomolecules 2019 12 24;10(1). Epub 2019 Dec 24.

Pulmonary, Allergy and Critical Care Division, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104-6118, USA.

Lymphangioleiomyomatosis (LAM) is a rare metastatic cystic lung disease due to a mutation in a TSC tumor suppressor, resulting in hyperactive mTOR growth pathways. Sirolimus (rapamycin), an allosteric mTORC1 inhibitor, is a therapeutic option for women with LAM but it only maintains lung volume during treatment and does not provide benefit for all LAM patients. The two major mTORC1 protein synthesis pathways are via S6K/S6 or 4E-BP/eIF4E activation. Read More

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http://dx.doi.org/10.3390/biom10010028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7022412PMC
December 2019

Detection of secondary causes of spontaneous pneumothorax: Comparison between computed tomography and chest X-ray.

Diagn Interv Imaging 2020 Apr 18;101(4):217-224. Epub 2019 Dec 18.

Department of Respiratory Medicine, AP-HP, hôpital Tenon, 75020 Paris, France; Thoracic Surgery Department, AP-HP, hôpital Tenon, 75020 Paris, France; Thoracic Oncology Department, Paris-Diderot University, AP-HP, hôpital Bichat, 75018 Paris, France. Electronic address:

Purpose: The aim of this study was to compare the effectiveness of chest X-ray to that of thoracic computed tomography (CT) for the detection of the causes of secondary spontaneous pneumothorax (SP).

Methods: A prospective cohort of patients with SP was studied. All chest X-ray and CT examinations of the patients were reviewed retrospectively by an expert radiologist blinded to clinical data. Read More

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http://dx.doi.org/10.1016/j.diii.2019.11.002DOI Listing

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

PLoS One 2019 19;14(12):e0226400. Epub 2019 Dec 19.

Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.

The aim of our study was to elucidate the landscapes of genetic alterations of TSC1 and TSC2 as well as other possible non-TSC1/2 in Lymphangioleiomyomatosis (LAM) patients. Sixty-one Chinese LAM patients' clinical information was collected. Tumor biopsies and matched leukocytes from these patients were retrospectively analyzed by next generation sequencing (NGS), chromosomal microarray analysis (CMA), and multiplex ligation-dependent probe amplification (MLPA). Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0226400PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922431PMC

Clinical CT underestimation of the percentage volume occupied by cysts in patients with lymphangioleiomyomatosis.

Clin Imaging 2020 Feb 27;59(2):119-125. Epub 2019 Nov 27.

National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

Purpose: To evaluate the accuracy of cyst score measurements by standard high-resolution helical volume chest CT (HRCT) in patients with lymphangioleiomyomatosis (LAM), using a short z-length ultra-high resolution re-scan (UH re-scan) as the reference. In cystic lung diseases, cyst score is derived from CT scans and defined as the percentage of the total lung parenchymal volume occupied by cysts, a biomarker which measures the severity of the disease.

Methods: In a prospective study of 73 LAM patients, each patient received the standard HRCT chest scan and a short z-length UH re-scan. Read More

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http://dx.doi.org/10.1016/j.clinimag.2019.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941194PMC
February 2020