Lymphangioleiomyomatosis and tuberous sclerosis

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Lymphangioleiomyomatosis and tuberous sclerosis: where is the border?

Pulmonary lymphangioleiomyomatosis (PLAM) is a rare disease, characterized by an abnormal proliferation of smooth muscle throughout the lung; it occurs exclusively in women, generally of reproductive age [1]. The muscle cells proliferating in PLAM show little or no atypia at histological level. Therefore, PLAM has been considered to be a hamartomatous lesion rather than a true neoplastic proces...

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Tuberous sclerosis complex presenting as pulmonary lymphangioleiomyomatosis - a clinicoradiological diagnosis

Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC. Imaging evaluation plays an important role in the assessment of patients with tuberous sclerosis complex. In newly diagnosed patients, it helps not only to confirm the diagnosis of TSC, but also helps in identifying clinically significan...

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Tuberous Sclerosis Complex Associated with Papillary Serous Carcinoma of the Peritoneum, Lymphangioleiomyomatosis, and Angiomyolipoma

Tuberous sclerosis complex (TSC) is associated with benign and malignant tumors, including lymphangioleiomyomatosis (LAM) and angiomyolipoma (AML). We herein describe the TSC case of a 50-year-old woman having a papillary serous carcinoma of the peritoneum (PSCP), LAM, and AML. On microscopic examination, the PSCP cells showed a cuboidal to columnar shape, proliferated into the papillae, and in...

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Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial.

PURPOSE Renal angiomyolipomas are a frequent manifestation of tuberous sclerosis and sporadic lymphangioleiomyomatosis (LAM). These disorders are associated with mutations of TSC1 or TSC2 that lead to overactivation of mTOR complex 1 (mTORC1), suggesting an opportunity for targeted therapy by using mTORC1 inhibitors. This study investigated the efficacy and safety of the mTORC1 inhibitor siroli...

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The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare neoplastic disease, best characterized by the formation of proliferative nodules that express smooth muscle and melanocytic antigens within the lung parenchyma, leading to progressive destruction of lung tissue and function. The pathological basis of LAM is associated with Tuberous Sclerosis Complex (TSC), a multi-system disorder marked by low-grade tumo...

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ژورنال

عنوان ژورنال: Respiratory Medicine

سال: 2002

ISSN: 0954-6111

DOI: 10.1053/rmed.2001.1206