hamartoma/phosphatase

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Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome: A Case Report

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Introduction: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) may manifest as one of four distinctive disorders: 1) Cowden syndrome; 2) Bannayan-Riley-Ruvalcaba syndrome; 3) Proteus syndrome; or 4) Proteus-like

Oral manifestations of phosphatase and tensin homolog hamartoma tumor syndrome: a report of three cases.

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BACKGROUND Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) encompasses several rare disorders linked to mutations of the PTEN gene, including Cowden disease (CD) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). The authors present a case series involving patients with

Oncophenotypic review and clinical correlates of phosphatase and tensin homolog on chromosome 10 hamartoma tumor syndrome.

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A case of follicular thyroid carcinoma associated with phosphatase and tensin homologue hamartoma tumour syndrome.

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Ultrasound-guided serratus anterior plane block for effective pain control after resection of large chest wall vascular malformation in a child with Phosphatase and Tensin (PTEN) hamartoma tumor syndrome.

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Myoid hamartoma of the liver--a novel variant of hamartoma developing in the hilar region and imitating a malignant liver tumor.

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BACKGROUND We report here an unusual variant of hepatic mesenchymal hamartoma exhibiting a marked myoid differentiation and clinically imitating hilar malignancy. METHODS A 17-year-old patient was admitted to the hospital with the suspicion of Klatskin's tumor. Three months before he had presented

Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.

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BACKGROUND Phosphatase and tensin homolog deleted on chromosome ten (PTEN)-hamartoma tumor syndrome (PHTS) is a complex disorder caused by germline inactivating mutations of the PTEN tumor suppressor gene. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and Proteus-like

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

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OBJECTIVE To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy.

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

Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.

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Cowden disease (CD) is a rare, autosomal dominant inherited cancer syndrome characterized by multiple benign and malignant lesions in a wide spectrum of tissues. While individuals with CD have an increased risk of breast and thyroid neoplasms, the primary features of CD are hamartomas. The gene for

PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects.

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Dysregulated activity of phosphatidylinositol 3-kinase (PI3K) and mammalian target of rapamycin complex 1 (mTORC1) is characteristic feature of hamartoma syndromes. Hamartoma syndromes, dominantly inherited cancer predisposition disorders, affect multiple organs and are manifested by benign tumors

Mesenchymal Hamartoma in Children: A Diagnostic Challenge.

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Mesenchymal hamartoma is a benign tumor of the liver with a poorly understood pathogenesis. It is uncommon in older children, especially after 2 years of age. The signs and symptoms may be nonspecific; therefore, a high index of suspicion is required for diagnosis and treatment. We report a

Temporal Evolution and Management of Fast Flow Vascular Anomalies in PTEN Hamartoma Tumor Syndrome.

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Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is characterized by formation of recurrent benign tumors described as PTEN hamartoma of soft tissue that may contain fast flow vascular anomalies (FFVA). The purpose of this study is to review the temporal evolution and management

PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female.

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A 4-year-old female was referred to pediatric orthopedic surgery for left leg pain and limping for 3 months following a motor vehicle collision. Recently, the patient's mother had noted left knee swelling and dragging of the left leg when walking. Past medical history was significant for hip

AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development.

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Mutations in the human phosphatase and tensin homolog (PTEN) gene cause PTEN hamartoma tumor syndrome (PHTS), which includes cataract development among its diverse clinical pathologies. Currently, it is not known whether cataract formation in PHTS patients is secondary to other systemic problems, or

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