Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease

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Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease

BACKGROUND Cowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease. CASE PRESENTATION We describe the case of a 52-year-old woman in whom a tumor was diagnosed in the left cerebellar hemisphere and treated by surgical resection....

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Cowden disease with Lhermitte-Duclos disease: case report.

BACKGROUND We report a case and review the recent literature describing 36 patients with both Lhermitte-Duclos disease (LDD) and Cowden disease (CD). Lhermitte-Duclos disease, or dysplastic gangliocytoma, is a benign hamartomatous condition involving the cerebellum. The presenting symptoms are usually headaches, gait ataxia, and symptoms of lower cranial nerve involvement. Cowden disease is a r...

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Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

Cowden syndrome is an autosomal dominant condition of multiple hamartomas. Patients with this phakomatosis have an increased risk of breast cancer and thyroid tumours. Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, mental retardation, and self-limited seizure disorder. We describe a three generation family with Cowden syndrome and Lherm...

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Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients

BACKGROUND Cancer risk and Lhermitte-Duclos disease (LDD) risk estimates for Cowden syndrome (CS) are broad and based on a small number of patients. Risk estimates are vital to the development of diagnostic criteria, genetic counseling, and cancer surveillance. To further elaborate and estimate the risks associated with CS, a large cohort of patients was evaluated. METHODS CS patients were id...

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Lhermitte-Duclos disease associated with Cowden's disease--case report.

A 49-year-old Japanese male with Lhermitte-Duclos disease subsequently developed a very rare association with Cowden's disease. Partial tumor removal established the diagnosis of Lhermitte-Duclos disease. Follow-up examinations discovered the presence of Cowden's disease. Long-term follow-up of patients with Lhermitte-Duclos disease is essential to identify signs of Cowden's disease, which carr...

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ژورنال

عنوان ژورنال: Surgical Case Reports

سال: 2017

ISSN: 2198-7793

DOI: 10.1186/s40792-017-0355-6