{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:11:43Z","timestamp":1787019103399,"version":"build-2736575974"},"reference-count":41,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T00:00:00Z","timestamp":1667174400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Somatic mosaicism for PIK3CA mutations causes various types of growth disorders, which have been summarized under the term PROS ( PIK3CA related overgrowth spectrum). Targeted therapy with PI3K inhibitors seems to be a promising alternative for severe PROS cases. Therefore, PIK3CA testing may become more relevant in the future.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report on 14 PROS patients, who had surgery for macrodactyly in the majority of cases. Clinical data were retrieved from the patient\u2019s records. Macroscopic and microscopic findings were retrospectively reviewed. Mutational analysis was performed on formalin-fixed paraffin-embedded (FFPE) material.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Patient age ranged from 7 months to 35 years. Five patients showed additional anomalies. One patient had CLOVES syndrome. The majority of the specimens were ray resections characterized by hypertrophic fat tissue. Overall, microscopy was subtle. The abnormal adipose tissue showed lobules exhibiting at least focally fibrous septa. In each case, we could detect a PIK3CA mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Histology of affected fat tissue in PROS patients is overall nonspecific. Therefore, mutational analysis represents the key to the diagnosis, especially in unclear clinical cases. We demonstrated that FFPE material is suitable for PIK3CA testing, which can be considered as basis for targeted therapy with PI3K inhibitors.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10935266221080155","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T04:39:04Z","timestamp":1667191144000},"page":"624-634","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["PIK3CA Mutational Analysis in Patients With Macrodactyly"],"prefix":"10.1177","volume":"25","author":[{"given":"Jakob","family":"Becker","sequence":"first","affiliation":[{"name":"Department of Pathology and Molecular Pathology, University Hospital Z\u00fcrich, Z\u00fcrich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike Camenisch","family":"Gross","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Pathology, University Hospital Z\u00fcrich, Z\u00fcrich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel M","family":"Weber","sequence":"additional","affiliation":[{"name":"Division of Hand Surgery, Department of Pediatric Surgery, University Children\u2019s Hospital Z\u00fcrich, Z\u00fcrich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8696-8164","authenticated-orcid":false,"given":"Lisa","family":"Weibel","sequence":"additional","affiliation":[{"name":"Pediatric Skin Center, Department of Dermatology, University Children\u2019s Hospital Z\u00fcrich, Z\u00fcrich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Theiler","sequence":"additional","affiliation":[{"name":"Pediatric Skin Center, Department of Dermatology, University Children\u2019s Hospital Z\u00fcrich, Z\u00fcrich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Brandt","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Pathology, University Hospital Z\u00fcrich, Z\u00fcrich, Switzerland"},{"name":"Institute of Pathology Medica, Z\u00fcrich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9633-4042","authenticated-orcid":false,"given":"Peter K","family":"Bode","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Pathology, University Hospital Z\u00fcrich, Z\u00fcrich, 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