Targeted therapy in patients with PIK3CA-related overgrowth syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Nature"
DOI: 10.1038/s41586-018-0217-9
Abstract: CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related… read more here.
Keywords: cloves syndrome; pros cloves; related overgrowth; pik3ca related ... See more keywords
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth Spectrum disorders.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac296
Abstract: Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphatidylinositol 3-kinase (PI3K), produce constitutive PI3K activation which causes PIK3CA-related overgrowth spectrum (PROS) disorders. To date, fewer than 20 patients have been described with… read more here.
Keywords: pi3k; germline pik3ca; pik3ca related; pik3ca variants ... See more keywords
Response to Alpelisib in Clinically Distinct Pediatric Patients With PIK3CA-related Disorders.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002418
Abstract: PIK3CA-related disorders include vascular malformations, potential overgrowth of various tissues, limb abnormalities, disordered soft tissue, and/or fatty hyperplasia that often leads to significant morbidity. Alpelisib, a targeted inhibitor of p110α, an enzyme encoded by the… read more here.
Keywords: patients pik3ca; pik3ca related; response alpelisib; clinically distinct ... See more keywords
PIK3CA-related overgrowth spectrum (PROS): a rare case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000485
Abstract: Study Design: Case report. Introduction and Importance: The purpose of this study is to report an extremely rare case of PIK3CA-related overgrowth spectrum. Case Presentation: A 12-year-old boy presented with severe overgrowth in the left… read more here.
Keywords: rare case; pik3ca related; report; case report ... See more keywords
Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.
Sign Up to like & getrecommendations! Published in 2022 at "Annals of plastic surgery"
DOI: 10.1097/sap.0000000000003389
Abstract: ABSTRACT Hyperactivation of the PI3K/AKT/mTOR signaling pathway caused by PIK3CA mutations is associated with a category of overgrowth syndromes that are defined as PIK3CA-related overgrowth spectrum (PROS). The clinical features of PROS are highly heterogeneous… read more here.
Keywords: overgrowth; related overgrowth; overgrowth spectrum; pik3ca related ... See more keywords
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108093
Abstract: Background Postzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150… read more here.
Keywords: 150 novel; novel patients; patients pik3ca; pik3ca related ... See more keywords
Prenatal Detection of PIK3CA-related Overgrowth Spectrum in Cultured Amniocytes Using Long-range PCR and Next-generation Sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric and Developmental Pathology"
DOI: 10.1177/1093526616669820
Abstract: Mutations in PIK3CA are associated with overgrowth spectrum disorders including excessive growth in some areas of the body and the central nervous system. Alterations in PIK3CA occur as somatic, postzygotic events and confer a mosaic… read more here.
Keywords: overgrowth spectrum; overgrowth; pik3ca related; related overgrowth ... See more keywords
Papillary Intralymphatic Angioendothelioma in a Child With PIK3CA-Related Overgrowth Spectrum: Implication of PI3K Pathway in the Vascular Tumorigenesis
Sign Up to like & getrecommendations! Published in 2023 at "Pediatric and Developmental Pathology"
DOI: 10.1177/10935266231152370
Abstract: Papillary intralymphatic angioendothelioma (PILA) is an extremely rare vascular tumor and its pathogenesis is unknown. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS) is a heterogeneous group of disorders caused by mosaicism for activating… read more here.
Keywords: intralymphatic angioendothelioma; pik3ca related; papillary intralymphatic; related overgrowth ... See more keywords