ganglioneuroma/phosphatase

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

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

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)

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

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

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

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 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 (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

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

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