Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.
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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
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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
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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
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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