PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.
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ABSTRACT:
SUBMITTER: Pagliazzi A
PROVIDER: S-EPMC8459713 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Publications
<i>PIK3CA</i>-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.
Pagliazzi Angelica A Oranges Teresa T Traficante Giovanna G Trapani Chiara C Facchini Flavio F Martin Alessandra A Semeraro Alessandro A Perrone Anna A Filippeschi Cesare C Giglio Sabrina S
Frontiers in pediatrics 20210909
<i>PIK3CA</i>-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical entities, which share the same pathogenetic mechanism. These conditions are caused by somatic gain-of-function mutations in <i>PIK3CA</i>, which encodes the 110-kD catalytic α subunit of PI3K (p110α). These <i>PIK3CA</i> mutations occur as post-zygotic events and lead to a gain of function of PI3K, with consequent constitutional activation of the downstream cascades (e.g., AKT/mTOR pathway), involv ...[more]
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