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Lymphangioleiomyomatosis

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https://www.readbyqxmd.com/read/28823029/experience-of-lung-transplantation-in-patients-with-lymphangioleiomyomatosis-at-a-brazilian-reference-centre
#1
Bruno Guedes Baldi, Marcos Naoyuki Samano, Silvia Vidal Campos, Martina Rodrigues de Oliveira, José Eduardo Afonso Junior, Rafael Medeiros Carraro, Ricardo Henrique Oliveira Braga Teixeira, Isabela Pasqualini Minguini, Roni Burlina, Eduardo Zinoni Silva Pato, Carlos Roberto Ribeiro Carvalho, André Nathan Costa
INTRODUCTION: Lung transplantation (LT) is the standard of care for patients with advanced lung diseases, including lymphangioleiomyomatosis (LAM). LAM accounts for only 1% of all LTs performed in the international registry. As a result, the global experience, including the use of mechanistic target of rapamycin (mTOR) inhibitors before and after LT in LAM, is still limited. METHODS: We conducted a retrospective review of all LAM patients who underwent LT at our centre between 2003 and 2016...
August 19, 2017: Lung
https://www.readbyqxmd.com/read/28792952/everolimus-long-term-use-in-patients-with-tuberous-sclerosis-complex-four-year-update-of-the-exist-2-study
#2
John J Bissler, J Chris Kingswood, Elzbieta Radzikowska, Bernard A Zonnenberg, Elena Belousova, Michael D Frost, Matthias Sauter, Susanne Brakemeier, Petrus J de Vries, Noah Berkowitz, Maurizio Voi, Severine Peyrard, Klemens Budde
OBJECTIVES: We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. METHODS: Following favorable results from the double-blind core phase of EXIST-2 (NCT00790400), patients were allowed to receive open-label everolimus (extension phase). Patients initially randomly assigned to everolimus continued on the same dose; those who were receiving placebo crossed over to everolimus 10 mg/day...
2017: PloS One
https://www.readbyqxmd.com/read/28754097/lymphangioleiomyomatosis-multifocal-micronodular-pneumocyte-hyperplasia-and-sarcoidosis-more-pathological-findings-in-the-same-chest-ct-or-a-single-pathological-pathway
#3
Fabiano Di Marco, Giuseppina Palumbo, Silvia Terraneo, Gianluca Imeri, Elena Lesma, Nicola Sverzellati, Angela Peron, Lorenzo Gualandri, Maria Paola Canevini, Stefano Centanni
BACKGROUND: Autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis are three rare diseases. Here we present, to the best of our knowledge, the first description of a patient with the coexistence of these three diseases. CASE PRESENTATION: A 47-year-old woman affected by LAM-TSC and primary biliary cirrosis/autoimmune hepatitis overlap syndrome. During her follow up a high resolution chest CT scan (HRTC) confirmed the presence of both multiple cysts and micronodular opacities consistent with multifocal micronodular pneumocytes hyperlasia (MMPH), and revealed multiple hilar-mediastinal symmetrical lymphadenopathies suggestive of sarcoidosis...
July 28, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28752672/risk-factors-for-stomatitis-in-patients-with-lymphangioleiomyomatosis-during-treatment-with-sirolimus-a-multicenter-investigator-initiated-prospective-study
#4
Nobutaka Kitamura, Kuniaki Seyama, Yoshikazu Inoue, Katsura Nagai, Masaru Suzuki, Hiroshi Moriyama, Toshinori Takada, Ryushi Tazawa, Toyohiro Hirai, Michiaki Mishima, Mie Hayashida, Masaki Hirose, Toru Arai, Chikatoshi Sugimoto, Noboru Hattori, Kentaro Watanabe, Tsutomu Tamada, Kohei Akazawa, Takahiro Tanaka, Koh Nakata
PURPOSE: Lymphangioleiomyomatosis is a rare lung disease caused by proliferation of abnormal smooth muscle-like cells and typically occurs in premenopausal women. Sirolimus is now the first-line drug for the treatment of lymphangioleiomyomatosis. Sirolimus-induced stomatitis is the most frequent adverse event experienced during treatment. To identify risk factors, we investigated the association of stomatitis incidence with patient background data and treatment parameters, using data from the multicenter long-term sirolimus trial...
July 28, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28733877/expanding-the-spectrum-of-colonic-manifestations-in-tuberous-sclerosis-l-cell-neuroendocrine-tumor-arising-in-the-background-of-rectal-pecoma
#5
David L Kolin, Kai Duan, Bo Ngan, J Ted Gerstle, Monika K Krzyzanowska, Gino R Somers, Ozgur Mete
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous condition that predisposes to numerous proliferative lesions, including perivascular epithelioid cell tumors (PEComas), such as lymphangioleiomyomatosis (LAM) and angiomyolipomas, and rare neuroendocrine neoplasms. We describe herein a TSC2-harboring tuberous sclerosis patient manifesting with a synchronous well-differentiated L-cell rectal neuroendocrine tumor and leiomyomatosis-like LAM of the rectum. The background large bowel wall was thickened by confluent nodular areas comprising vessels and spindle-to-epithelioid cells, which are immunoreactive for myoid (smooth muscle actin, muscle specific actin, and desmin) and melanocytic markers (HMB45, Melan-A, microphthalmia transcription factor, and CD117)...
July 21, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28710231/tuberin-regulates-prostaglandin-receptor-mediated-viability-via-rheb-in-mtorc1-hyperactive-cells
#6
Chenggang Li, Xiaolei Liu, Yang Liu, Erik Zhang, Kantha Medepalli, Kohei Masuda, Na Li, Elizabeth J Kopras, David J Kwiatkowski, Michael T Borchers, Kathryn A Wikenheiser-Brokamp, Andrew Osterburg, Maxwell Mays, Yang Sun, David R Plas, Julia L Sun, David N Franz, Jamie K Capal, Anya Alayev, Marina K Holz, Darcy A Krueger, Brian J Siroky, Jane J Yu
Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome affecting multiple organs, including the brain, skin, kidneys, heart, and lungs. TSC is associated with mutations in TSC1 or TSC2 resulting in hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1). Clinical trials demonstrate that mTORC1 inhibitors decrease tumor volume and stabilize lung function in TSC patients; however, mTOR inhibitors are cytostatic not cytocidal, and long-term benefits and toxicities are uncertain. Previously, we identified rapamycin-insensitive upregulation of cyclooxygenase 2 (PTGS2/COX2) and prostaglandin E2 (PGE2) production in TSC2-deficient cells and postulate that the action of excess PGE2 and its cognate receptors (EPs) contribute to cell survival...
July 14, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28706850/pneumothorax-caused-by-cystic-and-nodular-lung-metastases-from-a-malignant-uterine-perivascular-epithelioid-cell-tumor-pecoma
#7
Shouichi Okamoto, Moegi Komura, Yasuhisa Terao, Aiko Kurisaki-Arakawa, Takuo Hayashi, Tsuyoshi Saito, Shinsaku Togo, Akira Shiokawa, Keiko Mitani, Etsuko Kobayashi, Toshio Kumasaka, Kazuhisa Takahashi, Kuniaki Seyama
Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with immunoreactivity for both melanocytic and smooth muscle markers. PEComas occur at multiple sites, and malignant PEComas can undergo metastasis, recurrence and aggressive clinical courses. Although the lung is a common metastatic site of PEComas, they usually appear as multiple nodules but rarely become cystic or cavitary. Here, we describe a female patient whose lungs manifested multiple cystic, cavity-like and nodular metastases 3 years after the resection of uterine tumors tentatively diagnosed as epithelioid smooth muscle tumors with uncertain malignant potential...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28695825/tsc2-disruption-in-mesenchymal-progenitors-results-in-tumors-with-vascular-anomalies-overexpressing-lgals3
#8
Peter J Klover, Rajesh L Thangapazham, Jiro Kato, Ji-An Wang, Stasia A Anderson, Victoria Hoffmann, Wendy K Steagall, Shaowei Li, Elizabeth McCart, Neera Nathan, Joshua D Bernstock, Matthew D Wilkerson, Clifton L Dalgard, Joel Moss, Thomas N Darling
Increased mTORC1 signaling from TSC1/TSC2 inactivation is found in cancer and causes tuberous sclerosis complex (TSC). The role of mesenchymal-derived cells in TSC tumorigenesis was investigated through disruption of Tsc2 in craniofacial and limb bud mesenchymal progenitors. Tsc2cKO(Prrx1-cre) mice had shortened lifespans and extensive hamartomas containing abnormal tortuous, dilated vessels prominent in the forelimbs. Abnormalities were blocked by the mTORC1 inhibitor sirolimus. A Tsc2/mTORC1 expression signature identified in Tsc2-deficient fibroblasts was also increased in bladder cancers with TSC1/TSC2 mutations in the TCGA database...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28678574/active-surveillance-of-nonfatty-renal-masses-in-patients-with-lymphangioleiomyomatosis-use-of-ct-features-and-patterns-of-growth-to-differentiate-angiomyolipoma-from-renal-cancer
#9
Nilo A Avila, Andrew J Dwyer, Joel Moss
OBJECTIVE: The objective of this study was to report our experience with active surveillance of nonfatty renal masses in a large cohort of patients with lymphangioleiomyomatosis (LAM), correlate their CT features and patterns of growth with histopathology results, and provide guidelines for management. SUBJECTS AND METHODS: Yearly CT examinations were performed of 367 women (age range, 21-75 years; mean age, 47 years). For the 31 patients with 37 nonfatty renal masses that were biopsied, excised, or followed for ≥ 5 years, CT enhancement characteristics and patterns of growth were compared with the histopathology results...
July 5, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28671794/-pulmonary-lymphangioleimyomatosis-review-and-case-report
#10
Sophie Excoffier, Olivier Guinand, Thierry Rochat
Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease, occurring in women of childbearing age, that can occur sporadically (S-LAM) or can be associated with tuberous sclerosis complex (TSC-LAM), an inherited neurocutaneous disorder. This article is illustrated by a case report. We then review clinical manifestations, diagnostic tools, and treatment of this disease. LAM should be considered in young women who present with dyspnea on exertion and/or spontaneous pneumothorax, with typical cystic lesions on high-resolution chest CT...
August 24, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28667702/tuberous-sclerosis-complex-recent-advances-in-manifestations-and-therapy
#11
REVIEW
Mari Wataya-Kaneda, Motohide Uemura, Kazutoshi Fujita, Haruhiko Hirata, Keigo Osuga, Kuriko Kagitani-Shimono, Norio Nonomura
Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin-Tuberin complex is involved in the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin signal transduction pathway, and suppresses mammalian target of rapamycin complex 1 activity, which is a center for various functions...
July 1, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28665705/summary-for-clinicians-lymphangioleiomyomatosis-diagnosis-and-management-clinical-practice-guideline
#12
Laura C Feemster, Patrick G Lyons, Rohini S Chatterjee, Pranav Kidambi, Francis X McCormack, Joel Moss, Kevin C Wilson, Carey C Thomson
No abstract text is available yet for this article.
July 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28663780/new-insights-into-the-pathogenesis-and-prevention-of-tuberous-sclerosis-associated-neuropsychiatric-disorders-tand
#13
REVIEW
Tanjala T Gipson, Michael V Johnston
Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND). More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures...
2017: F1000Research
https://www.readbyqxmd.com/read/28649310/lung-ultrasound-has-limited-diagnostic-value-in-rare-cystic-lung-diseases-a-cross-sectional-study
#14
Jesper Rømhild Davidsen, Elisabeth Bendstrup, Daniel P Henriksen, Ole Graumann, Christian B Laursen
Background: Lung ultrasound (LUS) used to identify interstitial syndrome (IS) and pleural thickening related to diffuse parenchymal lung disease (DPLD) has shown significant correlations with ground glass opacity (GGO) on high-resolution computed tomography (HRCT). However, the applicability of LUS in patients with DPLD subtypes as rare cystic lung diseases has not previously been investigated. This study aimed to observe if distinctive LUS findings could be found in patients with lymphangioleiomyomatosis (LAM), pulmonary Langerhans cell histiocytosis (PLCH), and Birt-Hogg-Dubé syndrome (BHDS)...
2017: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28643793/genomic-rearrangements-in-sporadic-lymphangioleiomyomatosis-an-evolving-genetic-story
#15
Stephen J Murphy, Simone B Terra, Faye R Harris, Aqsa Nasir, Jesse S Voss, James B Smadbeck, Sarah H Johnson, Vishnu Serla, Jay H Ryu, Eunhee S Yi, Benjamin R Kipp, George Vasmatzis, Eva M Carmona
Sporadic lymphangioleiomyomatosis is a progressive pulmonary cystic disease resulting from the infiltration of smooth muscle-like lymphangioleiomyomatosis cells into the lung. The migratory/metastasizing properties of the lymphangioleiomyomatosis cell together with the presence of somatic mutations, primarily in the tuberous sclerosis complex gene (TSC2), lead many to consider this a low-grade malignancy. As malignant tumors characteristically accumulate somatic structural variations, which have not been well studied in sporadic lymphangioleiomyomatosis, we utilized mate pair sequencing to define structural variations within laser capture microdissected enriched lymphangioleiomyomatosis cell populations from five sporadic lymphangioleiomyomatosis patients...
June 23, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28623674/cathepsin-k-in-lymphangioleiomyomatosis-lam-cell-fibroblast-interactions-enhance-protease-activity-by-extracellular-acidification
#16
Arundhati Dongre, Debbie Clements, Andrew J Fisher, Simon R Johnson
Lymphangioleiomyomatosis (LAM) is a rare disease in which clonal LAM cells infiltrate the lungs and lymphatics. In association with recruited fibroblasts, LAM cells form nodules adjacent to lung cysts. It is hypothesized that LAM nodule-derived proteases lead to cyst formation. On protease gene-expression profiling in whole-lung tissue, cathepsin K was 40-fold overexpressed in LAM compared with control lungs (P ≤ 0.0001). Immunohistochemistry confirmed cathepsin K protein in LAM nodules but not in control lungs...
June 14, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28616248/lymphangioleiomyomatosis-an-explosive-presentation-of-a-rare-disease
#17
Faye Pais, Mohamed Fayed, Timothy Evans
Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease, commonly affecting women in the reproductive age group. Exacerbation of pre-existing disease is common during pregnancy likely due to the up-regulation of estrogen and progesterone receptors present within the proliferating smooth muscle cells. This case highlights a dramatic presentation of LAM for the first time in pregnancy, its rapid progression during gestation, and a partial resolution with delivery. The unusual radiographic imaging in this patient, lacked the characteristic cystic lesions commonly associated with LAM, but instead demonstrated a dense interstitial pattern with micronodular expansion of the interlobular septa suggesting severe lymphatic obstruction...
June 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28613922/apparent-sporadic-lymphangioleiomyomatosis-in-a-man-as-a-result-of-extreme-mosaicism-for-a-tsc2-mutation
#18
MeiLan K Han, Magdalena E Tyburczy, Thomas N Darling, Ella A Kazerooni, Jeffrey L Myers, Francis X McCormack, Joel Moss, David J Kwiatkowski
No abstract text is available yet for this article.
July 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28590337/spontaneous-pneumothorax-in-diffuse-cystic-lung-diseases
#19
Joseph Cooley, Yun Chor Gary Lee, Nishant Gupta
PURPOSE OF REVIEW: Diffuse cystic lung diseases (DCLDs) are a heterogeneous group of disorders with varying pathophysiologic mechanisms that are characterized by the presence of air-filled lung cysts. These cysts are prone to rupture, leading to the development of recurrent spontaneous pneumothoraces. In this article, we review the epidemiology, clinical features, and management DCLD-associated spontaneous pneumothorax, with a focus on lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, and pulmonary Langerhans cell histiocytosis...
July 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28584685/renal-epithelioid-angiomyolipoma-associated-with-pulmonary-lymphangioleiomyomatosis-imaging-findings
#20
Athina C Tsili, Alexandra Ntorkou, Maria I Argyropoulou
Renal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are the most common tumors of the perivascular epithelioid cell (PEComa) family. Both may be associated with tuberous sclerosis (TS) complex. Epithelioid AML (EAML) is a rare variety of AMLs, with a potential aggressive behavior. There are few reports in the English literature addressing on the imaging findings of renal EAMLs, which are considered nonspecific. We present the sonographic, computed tomographic, and magnetic resonance imaging findings of a renal EAML in a pregnant woman with concomitant pulmonary lesions indicative of LAM, without stigmata of TS...
2017: Journal of Clinical Imaging Science
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