ganglioneuroma/phosphatase

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Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.

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Hamartomatous polyposis syndromes (HPS) account for a small but appreciable proportion of inherited gastrointestinal cancer predisposition syndromes; patients with HPS have an increased risk for colon and extracolonic malignancies. We present a unique case of familial juvenile polyposis syndrome

Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review.

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Dysplastic gangliocytoma (Lhermitte-Duclos disease [LDD]) typically presents as a PTEN (phosphatase and tensin homolog)-positive, insidious unilateral mass of the cerebellar cortex. Patients can present with symptoms of increased intracranial pressure. Magnetic resonance imaging (MRI)

Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma.

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A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9orf72) was recently identified as the most common genetic cause of frontotemporal dementia/amyotrophic lateral sclerosis. Here we describe the clinical, pathologic, and genetic features of a Finnish C9orf72 expansion

Resection of a Symptomatic Dysplastic Cerebellar Gangliocytoma: 2-Dimensional Operative Video.

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Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare benign cerebellar tumor that is typically observed but may occasionally become symptomatic and requires surgical intervention. The condition is caused by a mutation in the phosphatase and tensin homolog (PTEN)

Philadelphia chromosome-positive chronic myeloid leukemia and thoracic ganglioneuroma. Previously undescribed association.

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A previously healthy 11 year-old-white boy presented with persistent mild leukocytosis and a posterior mediastinal mass. Surgical excision of the mass showed it to be a ganglioneuroma. Postoperatively, the patient had marked leukocytosis (white blood cell count 57,000/mm3) and a low leukocyte

Immunostaining for calcineurin, a Ca2+/calmodulin-regulated protein phosphatase, in the diagnostic tumor pathology.

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The present immunochemical study concerns the distribution of calcineurin (CaN), a Ca2+/calmodulin-regulated protein phosphatase, in the nervous and neuroendocrine systems of mammals, and discloses the CaN-immunostaining results of human neoplasms. CaN immunoreactivity (ir) was present throughout

Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature.

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BACKGROUND The authors describe 2 cases of dysplasic gangliocytoma of the cerebellum or Lhermitte-Duclos disease revealing Cowden disease or multiple hamartoma neoplasia syndrome. Cowden disease is a rare autosomal dominant disorder, now considered as a phakomatosis. Nevertheless, relationships

Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.

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OBJECTIVE To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten (PTEN) hamartoma tumor syndrome (PHTS) and to perform a systematic literature review regarding the same. METHODS This study was approved by the appropriate

Calcineurin as a neuronal marker of human brain tumors.

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Calcineurin is one of the calmodulin binding proteins and a Ca2+-dependent and calmodulin-stimulated phosphoprotein phosphatase. We used antisera to the calcineurin as a cell-type-specific marker in order to identify neuronal cells in the rat brain and human neoplasms. In normal rat brain slices,

Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter.

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Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. The most

Lhermitte-Duclos disease with cervical paraspinal arteriovenous fistula.

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A 38-year-old man presented with a dysplastic cerebellar gangliocytoma associated with a paraspinal arteriovenous fistula (AVF) at the upper cervical portion. Neuroimaging examination indicated the diagnosis of Lhermitte-Duclos disease. The patient was treated by embolization of the AVF followed by

Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

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Cowden syndrome (CS) is clinically presented by multiple hamartomas, often with mucocutaneous lesions, goiter, breast cancer and gastrointestinal polyps. CS is a genetic disorder of autosomal dominant inheritance and is one distinct syndrome of the phosphatase and tensin homolog on chromosome 10

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