{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T16:35:23Z","timestamp":1772987723775,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"vor","delay-in-days":272,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Phosphatidylinositol 4,5\u2010bisphosphate 3\u2010kinase catalytic subunit alpha (\n                    <jats:italic>PIK3CA<\/jats:italic>\n                    )\u2010related overgrowth spectrum (PROS) is a group of rare genetic asymmetric and atypical overgrowth disorder syndromes. Affecting skin, adipose and connective tissues, brain, bone, and vasculature and severity influenced by the gestational age at which the change occurred, PROS is phenotypically heterogeneous. This paper shares the case report of a former extremely preterm infant diagnosed with a subtype of PROS, megalencephaly\u2010capillary malformation\/megalencephaly\u2010capillary malformation polymicrogyria (MCAP) syndrome, for whom treatment with alpelisib was initiated at 10\u2009months of age (7\u2009months corrected age). To our knowledge, this patient is the third and youngest to be included in this expanded access program for compassionate use for patients under 2\u2009years of age.\n                  <\/jats:p>","DOI":"10.1155\/crig\/6839348","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T16:49:16Z","timestamp":1759250956000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["An Extremely Preterm Infant With\n                    <i>PIK3CA-<\/i>\n                    Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7900-5650","authenticated-orcid":false,"given":"Sharon","family":"Anderson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0551-2019","authenticated-orcid":false,"given":"Milen","family":"Velinov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"e_1_2_9_1_2","unstructured":"OMIM Phosphatidylinositol 3-Kinase Catalytic Alpha; PIK3CA 2024 https:\/\/www.omim.org\/entry\/171834?search=pik3ca%26highlight=pik3ca."},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01414-9"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14027"},{"key":"e_1_2_9_4_2","unstructured":"MedlinePlus Megalencephaly-Capillary Malformation Syndrome https:\/\/medlineplus.gov\/genetics\/condition\/megalencephaly-capillary-malformation-syndrome\/#synonyms."},{"key":"e_1_2_9_5_2","unstructured":"MedlinePlus PIK3CA Gene https:\/\/medlineplus.gov\/genetics\/gene\/pik3ca\/."},{"key":"e_1_2_9_6_2","volume-title":"Genereviews","author":"Mirzaa G.","year":"2023"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.87623"},{"key":"e_1_2_9_8_2","article-title":"Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP)","author":"Mirzaa G.","journal-title":"MedGen"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108093"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2019.01.01"},{"key":"e_1_2_9_11_2","unstructured":"Novartis Pharmaceuticals Corporation Vijoice: Prescribing InformationDrug Information 2024 https:\/\/www.novartis.com\/us-en\/sites\/novartis_us\/files\/vijoice.pdf."},{"key":"e_1_2_9_12_2","unstructured":"Genetic Testing Registry Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C1865285\/."},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.613260"},{"key":"e_1_2_9_14_2","unstructured":"National Organization of Rare Disorders Megalencephaly-Capillary Malformation 2021 https:\/\/rarediseases.org\/rare-diseases\/megalencephaly-capillary-malformation\/."},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0297-9"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.5863\/1551-6776-28.7.590"},{"key":"e_1_2_9_17_2","unstructured":"National Library of Medicine (US) Study Assessing the Efficacy Safety and PK of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-Related Overgrowth Spectrum (EPIK-P2) 2021 https:\/\/clinicaltrials.gov\/study\/NCT04589650."},{"key":"e_1_2_9_18_2","unstructured":"Us Food and Drug Administration FDA Approves Novartis Vijoice (Alpelisib) as First and Only Treatment for Select Patients With PIK3CA-Related Overgrowth Spectrum (PROS) 2022 https:\/\/www.fda.gov\/drugs\/resources-information-approved-drugs\/fda-approves-alpelisib-pik3ca-related-overgrowth-spectrum."},{"key":"e_1_2_9_19_2","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-23-1270"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/6839348","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/6839348","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/6839348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T11:05:46Z","timestamp":1772967946000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/6839348"}},"subtitle":[],"editor":[{"given":"Irfan","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crig\/6839348"],"URL":"https:\/\/doi.org\/10.1155\/crig\/6839348","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-04-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"6839348"}}