{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:05Z","timestamp":1792084025238,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T00:00:00Z","timestamp":1441929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Japan Agency for Medical Research and Development (AMED)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Genetic mosaicism for somatic mutations of oncogenes is common in genodermatoses, which can be complicated with extra\u2010cutaneous abnormalities. Here we describe an infant with a congenital anaplastic astrocytoma, a linear syringocystadenoma papilliferum, and ocular abnormalities. The <jats:italic>BRAF<\/jats:italic> c.1799T&gt;A p.V600E mutation was detected in both the brain and skin tumor cells but not in the blood or normal skin cells, suggesting somatic mosaicsism for the mutation. Clinically, the brain tumor gradually became life threatening without any response to conventional chemotherapies including carboplatin, etoposide, and temozolomide. Vemurafenib, a BRAF p.V600E inhibitor, was administered daily after the detection of the <jats:italic>BRAF<\/jats:italic> mutation. This single\u2010agent therapy was dramatically effective against the anaplastic astrocytoma; the tumor regressed, the cerebrospinal fluid cell count and protein levels decreased to normal levels, and hydrocephalus resolved. Moreover, other lesions including a corneal cyst also responded to vemurafenib. The brain tumor continued shrinking after 6 months of treatment. We present a genodermatosis syndrome associated with <jats:italic>BRAF<\/jats:italic> c.1799T&gt;A p.V600E mosaicism. This syndrome may represent a new entity in the mosaic RASopathies, partly overlapping with Schimmelpenning\u2010Feuerstein\u2010Mims syndrome, which is driven by mosaicism of <jats:italic>HRAS<\/jats:italic> and\/or <jats:italic>KRAS<\/jats:italic> activating mutations. Screening for <jats:italic>BRAF<\/jats:italic> c.1799T&gt;A p.V600E is especially useful for those with malignant tumors, because it is one of the most\u2010druggable targets. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37376","type":"journal-article","created":{"date-parts":[[2015,9,11]],"date-time":"2015-09-11T07:35:35Z","timestamp":1441956935000},"page":"189-194","source":"Crossref","is-referenced-by-count":31,"title":["Somatic BRAF c.1799T&gt;A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities"],"prefix":"10.1002","volume":"170","author":[{"given":"Yuko","family":"Watanabe","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tohoku University School of Medicine Sendai Miyagi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Shido","sequence":"additional","affiliation":[{"name":"Department of Dermatology 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