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Progression of epididymal maldevelopment into hamartoma-like neoplasia in VHL disease.
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Inactivation of the von Hippel-Lindau (VHL) gene and activation of the hypoxia-inducible factor (HIF) in susceptible cells precedes formation of tumorlets and frank tumor in the epididymis of male VHL patients. We performed detailed histologic and molecular pathologic analysis of tumor-free
Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma syndromes.
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The LKB1 tumor suppressor protein controls the activity of the TSC1/TSC2 tumor suppressor complex. Mutations in LKB1 cause Peutz-Jeghers syndrome (PJS), and mutations in either TSC1 or TSC2 cause tuberous sclerosis complex--two syndromes characterized by the development of hamartomas. LKB1
[Neuropathologic findings in intractable epilepsy: a clinicopathologic analysis of 822 cases].
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Objective: To investigate the clinicopathologic characteristics of intractable epilepsy. Methods: Based on the classification criteria proposed by the International League Against Epilepsy (ILAE), a retrospective analysis of the pathological characteristics was done in 822 patients who underwent
Clinical and molecular insights into lymphangioleiomyomatosis.
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Lymphangioleiomyomatosis (LAM) is a rare disease of women that is characterized by a proliferation of abnormal smooth muscle-like cells (LAM cells), which leads to cystic lung lesions, lymphatic abnormalities, and abdominal tumors (e.g., angiomyolipomas). LAM occurs sporadically or in association
The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis.
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Lymphangioleiomyomatosis (LAM) is a multisystem disease of women, characterized by proliferation of abnormal smooth muscle-like cells (LAM cells) that can metastasize, leading to the formation of lung cysts, fluid-filled cystic structures in the axial lymphatics (e.g., lymphangioleiomyomas), and
Reduced anisotropy of water diffusion in structural cerebral abnormalities demonstrated with diffusion tensor imaging.
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We used diffusion tensor imaging (DTI) to investigate the behavior of water diffusion in cerebral structural abnormalities. The fractional anisotropy, a measure of directionality of the molecular motion of water, and the mean diffusivity, a measure of the magnitude of the molecular motion of water,
mTOR and vascular remodeling in lung diseases: current challenges and therapeutic prospects.
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Mammalian target of rapamycin (mTOR) is a major regulator of cellular metabolism, proliferation, and survival that is implicated in various proliferative and metabolic diseases, including obesity, type 2 diabetes, hamartoma syndromes, and cancer. Emerging evidence suggests a potential critical role
Mammalian target of rapamycin complex 1: signalling inputs, substrates and feedback mechanisms.
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The mammalian target of rapamycin (mTOR) signalling pathway is implicated in the pathogenesis of a number of cancers and inherited hamartoma syndromes which have led to mTOR inhibitors, such as rapamycin, being tested in clinical trials. Knowledge of the mTOR pathway is rapidly expanding. This
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