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The disease has high morbidity and mortality rates due to the increased risk for patients to develop cancer and progressive overgrowth. A teenage patient with severe PS phenotype developed a pelvic recurrence of low\u2010grade serous ovarian carcinoma (LGSOC). Taking into consideration, recent results of the use of AKT inhibitors both in PS and AKT\u2010mutant cancers, we treated the patient on a compassionate basis, with miransertib (ARQ 092), a potent, selective, allosteric AKT inhibitor. Targeted deep sequencing assay of PI3K\/AKT pathway genes of the affected overgrowth lesion (cerebriform connective tissue nevus) and the tumor tissues detected the same activating <jats:italic>AKT1<\/jats:italic> mutation in both. Treatment with miransertib led to a complete remission of the cancer and a significant improvement in the patients' everyday life. The treatment is still ongoing at 22\u2009months. This is the first report showing the therapeutic effects of an AKT inhibitor on both benign and malignant tissues that harbor the same pathogenic <jats:italic>AKT1<\/jats:italic> mutation. The present article showed that personalized medicine is feasible in ultra\u2010rare diseases.<\/jats:p>","DOI":"10.1002\/ajmg.a.61160","type":"journal-article","created":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T21:10:19Z","timestamp":1557177019000},"page":"1319-1324","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"first","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health Fondazione Policlinico Universitario A. 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Burlington Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Abbadessa","sequence":"additional","affiliation":[{"name":"ArQule, Inc.  Burlington Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Crown","sequence":"additional","affiliation":[{"name":"Department of Oncology St Vincent's University Hospital  Dublin Republic of Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conor D.","family":"Collins","sequence":"additional","affiliation":[{"name":"Department of Radiology St Vincent's University Hospital  Dublin Republic of Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlotta","family":"Ranieri","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Biomedical Sciences and Human Oncology (DIMO) Univerist\u00e0 di Bari \u201cAldo Moro\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Scambia","sequence":"additional","affiliation":[{"name":"Division of Gynecological Oncology, Department of Woman and Child Health Fondazione Policlinico Universitario A. 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