دورية أكاديمية
PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly
| العنوان: | PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly |
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| المؤلفون: | Krishnamurthy, Kritika, Edema, Ukuemi, Ustun, Berrin, Villanueva-Siles, Esperanza, Koehler, Steven M, Naeem, Rizwan, Wang, Yanhua, Goldstein, Doctor Y |
| المصدر: | Journal of Surgical Case Reports ; volume 2023, issue 10 ; ISSN 2042-8812 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Surgery |
| الوصف: | PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%–1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/jscr/rjad549 |
| الإتاحة: | https://doi.org/10.1093/jscr/rjad549Test https://academic.oup.com/jscr/article-pdf/2023/10/rjad549/52137747/rjad549.pdfTest |
| حقوق: | https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.538006FA |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/jscr/rjad549 |
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