PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female
Sign Up to like & getrecommendations! Published in 2017 at "Skeletal Radiology"
DOI: 10.1007/s00256-017-2732-4
Abstract: 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… read more here.
Keywords: soft tissue; old female; tissue; pten hamartoma ... See more keywords
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-021-02079-7
Abstract: Background The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to… read more here.
Keywords: hamartoma tumor; clinical genetic; spanish patients; pten hamartoma ... See more keywords
PTEN hamartoma tumor syndrome in childhood and adolescence—a comprehensive review and presentation of the German pediatric guideline
Sign Up to like & getrecommendations! Published in 2022 at "Molecular and Cellular Pediatrics"
DOI: 10.1186/s40348-022-00135-1
Abstract: Background The PTEN hamartoma tumor syndrome (PHTS) encompasses several different syndromes, which are linked to an autosomal-dominant mutation of the tumor suppressor PTEN gene on chromosome 10. Loss of PTEN activity leads to an increased… read more here.
Keywords: tumor; hamartoma tumor; diagnosis; childhood ... See more keywords
Thyroid Follicular Cell-derived Carcinomas in a Background of Multiple Adenomatous Nodules Leading to a Diagnosis of PTEN Hamartoma Tumor Syndrome in an Adult Patient With a Novel RECQL4 Mutation
Sign Up to like & getrecommendations! Published in 2022 at "AntiCancer Research"
DOI: 10.21873/anticanres.15619
Abstract: Background: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a complex disorder. Carriers develop hamartomatous tumors, with an increased risk for developing malignant tumors in multiple organs. Surveillance to facilitate the early detection… read more here.
Keywords: pten hamartoma; adenomatous nodules; follicular cell; background ... See more keywords
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2021.688105
Abstract: Germline PTEN pathogenic variants cause a spectrum of disorders collectively labeled PTEN Hamartoma Tumor Syndrome (PHTS) and featured by hamartomas, developmental anomalies and increased cancer risk. Studies on experimental models provided evidence that PTEN is… read more here.
Keywords: tumor syndrome; pten; pathogenesis; pten hamartoma ... See more keywords
Thyroid pathology, a clue to PTEN hamartoma tumor syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Pathology and Translational Medicine"
DOI: 10.4132/jptm.2023.03.04
Abstract: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations in the PTEN tumor suppressor gene. As a type of PHTS, Cowden syndrome is associated with abnormalities… read more here.
Keywords: pten hamartoma; pathology; hamartoma tumor; tumor syndrome ... See more keywords