Differentiation Between Lymphangioleiomyomatosis and Birt-Hogg-Dubé Syndrome: Analysis of Pulmonary Cysts on CT Images.

Objective: The purposes of this study were to identify diagnostic imaging markers for differentiating pulmonary cysts in lymphangioleiomyomatosis and Birt-Hogg-Dubé syndrome and to identify potential risk factors for spontaneous pneumothorax in the two diseases.

Materials And Methods: This retrospective study included 44 patients with lymphangioleiomyomatosis (44 women; mean age, 35 ± 10.9 years) and 13 patients with Birt-Hogg-Dubé syndrome (nine men, four women; mean age, 45.

Use of CT Imaging to Quantify Progression and Response to Treatment in Lymphangioleiomyomatosis.

Background: In lymphangioleiomyomatosis (LAM), infiltration of the lungs with smooth muscle-like LAM cells results in cystic destruction and decline in lung function, effects stabilized by sirolimus therapy. LAM lung disease is followed, in part, by high-resolution CT scans. To obtain further information from these scans, we quantified changes in lung parenchyma by analyzing image "texture.

Safe and effective use of nivolumab for treating lung adenocarcinoma associated with sporadic lymphangioleiomyomatosis: a rare case report.

Background: Sporadic lymphangioleiomyomatosis (LAM) is a rare form of diffuse parenchymal lung disease. PD-1 blocking antibodies constitute an essential treatment option for advanced non-small-cell lung cancer (NSCLC). The effect of immune checkpoint inhibitors in lymphangioleiomyomatosis patients with non-small cell lung cancer is unknown: concomitant symptomatic interstitial lung disease or the use of immunosuppressors was a key exclusion criterion in the original studies of immune checkpoint inhibitors, especially regarding the risk of interstitial lung disease exacerbation.

Somatic activating mutations in cause generalized lymphatic anomaly.

Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood. We identified four distinct somatic variants (Glu542Lys, Gln546Lys, His1047Arg, and His1047Leu) in tissue samples from five out of nine patients with GLA.

Can we predict the existence of extrarenal feeders to renal angiomyolipomas?

Objectives: To identify factors predicting the presence of extrarenal feeders to renal angiomyolipomas (AMLs) METHODS: This is a retrospective study of 44 patients with 58 renal AMLs embolized in our department. Arteriography obtained during embolization and CT angiography obtained before and after embolization were reviewed to characterize AMLs with and without extrarenal feeders. Tumor characteristics were compared between the two groups.

Lymphangioleiomyomatosis (LAM) presenting as recurrent pneumothorax in an infant with tuberous sclerosis: treated successfully with sirolimus.

Lymphangioleiomyomatosis (LAM) either sporadic or a part of tuberous sclerosis complex is rare in paediatric age group. Here, we report a case of LAM with tuberous sclerosis in an infant. She was referred to our institute at the age of 4 months as a case of recurrent bilateral pneumothorax requiring intercostal tube drainage.

Chest CT Scan at Radiation Dose of a Posteroanterior and Lateral Chest Radiograph Series: A Proof of Principle in Lymphangioleiomyomatosis.

Background: Given the rising utilization of medical imaging and the risks of radiation, there is increased interest in reducing radiation exposure. The objective of this study was to evaluate, as a proof of principle, CT scans performed at radiation doses equivalent to that of a posteroanterior and lateral chest radiograph series in the cystic lung disease lymphangioleiomyomatosis (LAM).

Methods: From November 2016 to May 2018, 105 consecutive subjects with LAM received chest CT scans at standard and ultra-low radiation doses.

Less common manifestations in TSC.

Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected, such as brain, skin, eye, heart, bone, kidney, or lung. Typical lesions of TSC usually are those included as major criteria, including angiofibromas, hypomelanotic macules, tubers, subependymal nodules, angiomyolipomas, cardiac rhabdomyomas, and lymphangioleiomyomatosis.

Immune Checkpoint Ligand PD-L1 Is Upregulated in Pulmonary Lymphangioleiomyomatosis.

Pulmonary lymphangioleiomyomatosis (LAM) is a slow-progressing metastatic disease that is driven by mutations in the tumor suppressor tuberous sclerosis complex 1/2 (TSC1/2). Rapamycin inhibits LAM cell proliferation and is the only approved treatment, but it cannot cause the regression of existing lesions and can only stabilize the disease. However, in other cancers, immunotherapies such as checkpoint blockade against PD-1 and its ligand PD-L1 have shown promise in causing tumor regression and even curing some patients.

Smoking-Related Diffuse Cystic Lung Disease.

Exposure to cigarette smoke can lead to a variety of parenchymal lung diseases, including diffuse cystic lung diseases (DCLDs). Lymphangioleiomyomatosis (LAM) is the prototypical DCLD and has a characteristic appearance on high-resolution CT (HRCT). We present a series of four patients with DCLD on HRCT who were referred to our institution with a presumed diagnosis of LAM and who were found instead to have smoking-related injury of the small airways on histopathological analysis.

Thoracoabdominal imaging of tuberous sclerosis.

Imaging of tuberous sclerosis complex has rapidly evolved over the last decade in association with increased understanding of the disease process and new treatment modalities. Tuberous sclerosis complex is best known for the neurological symptoms and the associated neuroimaging findings, and children with tuberous sclerosis complex require active surveillance of associated abnormalities in the chest, abdomen and pelvis. Common findings that require regular imaging surveillance are angiomyolipomas in the kidneys and lymphangioleiomyomatosis in the chest.

[F]Fluorocholine and [F]Fluoroacetate PET as Imaging Biomarkers to Assess Phosphatidylcholine and Mitochondrial Metabolism in Preclinical Models of TSC and LAM.

Purpose: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations of the or gene, characterized by neurocognitive impairment and benign tumors of the brain, skin, heart, and kidneys. Lymphangioleiomyomatosis (LAM) is a diffuse proliferation of α-smooth muscle actin-positive cells associated with cystic destruction of the lung. LAM occurs almost exclusively in women, as a TSC manifestation or a sporadic disorder ( somatic mutations).

Immunohistological features related to functional impairment in lymphangioleiomyomatosis.

Background: Lymphangioleiomyomatosis (LAM) is a low-grade neoplasm characterized by the pulmonary infiltration of smooth muscle-like cells (LAM cells) and cystic destruction. Patients usually present with airway obstruction in pulmonary function tests (PFTs). Previous studies have shown correlations among histological parameters, lung function abnormalities and prognosis in LAM.

Hemodynamic Mechanisms of Exercise-Induced Pulmonary Hypertension in Patients with Lymphangioleiomyomatosis: The Role of Exercise Stress Echocardiography.

Background: The pathogenesis of pulmonary hypertension (PH) in lymphangioleiomyomatosis (LAM) has not yet been completely clarified. The aim of this study was to conduct a noninvasive evaluation of the main hemodynamic mechanisms of exercise-induced PH in patients with LAM, assessed using exercise stress echocardiography.

Methods: Fifteen patients with LAM (mean age, 47 ± 13 years; all women) without resting PH were enrolled in a prospective single-center study and compared with 15 healthy female control subjects (mean age, 45.

Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial.

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which is a leading cause of TSC-related death in adult patients. The aim of the study was to evaluate the efficacy and safety profiles of everolimus in Chinese patients of TSC associated with RAML(TSC-RAML).

Mounier-Kuhn Syndrome Mimicking Lymphangioleiomyomatosis.

We present the case of a man with Mounier-Kuhn syndrome (MKS), or tracheobronchomegaly, who was referred to the National Institutes of Health Clinical Research Center because of a potential diagnosis of lymphangioleiomyomatosis (LAM), a rare condition in men. The patient was evaluated using ongoing protocols and provided written informed consent. The case demonstrates the presence of chronic inflammation surrounding the dilated airways and histologic changes of the lung parenchyma with emphysematouslike disruption in areas adjacent to the dilated airways.

Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis.

Purpose: To retrospectively evaluate therapeutic performance and complications of superselective transcatheter arterial embolization (TAE) for unruptured renal angiomyolipoma (AML) in patients with lymphangioleiomyomatosis (LAM) and to investigate the correlation between percentage reduction in tumor volume and intratumoral fat content.

Materials And Methods: Superselective TAE was performed in 14 consecutive patients with 15 large unruptured renal AMLs associated with LAM (mean age, 38 y; range, 21-57 y). Patients had renal AML with aneurysms ≥ 5 mm in diameter, tumor-related abdominal symptoms, or both.

Clinical Course of Histologically Proven Multifocal Micronodular Pneumocyte Hyperplasia in Tuberous Sclerosis Complex: A Case Series and Comparison with Lymphangiomyomatosis.

Background: Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary manifestation of tuberous sclerosis complex (TSC). Because of its rarity, no previous study has described the detailed clinical course of this disease.

Objectives: This study aimed to clarify the longitudinal clinical characteristics of subjects with MMPH.

Recurrence of retroperitoneal localized perivascular epithelioid cell tumor two years after initial diagnosis: case report.

Context: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors. Adjuvant radiotherapy and/or chemotherapy are administered according to the patient's clinical characteristics.

Case Report: A 42-year-old female patient was operated to treat a retroperitoneal mass.

Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome.

Many groups developed the methods to quantitatively analyze low attenuation area (LAA) on chest CT in patients with cystic lung diseases. Especially in COPD, it was reported that the cumulative size distribution of LAA clusters follows a power law characterized by the exponent D, which reflect the fractal dimension of terminal airspace geometry. We hypoyhesized that the quantitative charateristics of LAA clusters including fractal property might indicate the different features of the progression of cysts in cystic lung diseases.