{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T15:07:28Z","timestamp":1740150448060,"version":"3.37.3"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2020,11,26]],"date-time":"2020-11-26T00:00:00Z","timestamp":1606348800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a highly variable clinical presentation affecting people of all ages. Mutations in BRAF V600E are the most identifiable molecular alteration in LCH although its incidence in pediatric patients with isolated pituitary stalk involvement is not well described. Pediatric patients with LCH and isolated pituitary stalk involvement typically present with central diabetes insipidus. Diagnosis requires a transcranial biopsy which often yields scant tissue. We sought to determine the prevalence of BRAF V600E mutations in patients with isolated pituitary stalk LCH using digital droplet polymerase chain reaction because this method requires minimal tumor DNA. We identified 8 patients with isolated pituitary stalk thickening who underwent a biopsy at Children\u2019s Hospital Colorado from January 2001 to December 2019, as well as 6 patients with systemic LCH diagnosed by biopsy in the same period as a comparison. Only one out of the 8 patients with isolated thickened pituitary stalk was found to have a detectable BRAF V600E mutation. Five out of the 6 patients with systemic LCH had a detectable BRAF V600E mutation. In our series, BRAF V600E mutations are rare in pediatric patients with LCH and isolated pituitary stalk involvement.<\/jats:p>","DOI":"10.1093\/jnen\/nlaa091","type":"journal-article","created":{"date-parts":[[2020,9,15]],"date-time":"2020-09-15T13:46:59Z","timestamp":1600177619000},"page":"1313-1319","source":"Crossref","is-referenced-by-count":1,"title":["ddPCR Analysis Reveals BRAF V600E Mutations Are Infrequent in Isolated Pituitary Langerhans Cell Histiocytosis Patients"],"prefix":"10.1093","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8751-2401","authenticated-orcid":false,"given":"Anandani","family":"Nellan","sequence":"first","affiliation":[{"name":"Morgan Adams Foundation Pediatric Brain Tumor Research Program, Center for Cancer and Blood Disorders , Children\u2019s Hospital Colorado"},{"name":"Division of Pediatric Hematology \/ Oncology, Department of Pediatrics, University of Colorado Denver , Aurora, Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avery","family":"Bodlak","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology \/ Oncology, Department of Pediatrics, University of Colorado Denver , Aurora, Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David M","family":"Mirsky","sequence":"additional","affiliation":[{"name":"Department of Radiology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Mulcahy Levy","sequence":"additional","affiliation":[{"name":"Morgan Adams Foundation Pediatric Brain Tumor Research Program, Center for Cancer and Blood Disorders , Children\u2019s Hospital Colorado"},{"name":"Division of Pediatric Hematology \/ Oncology, Department of Pediatrics, University of Colorado Denver , Aurora, Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy P","family":"Garrington","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology \/ Oncology, Department of Pediatrics, University of Colorado Denver , Aurora, Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas K","family":"Foreman","sequence":"additional","affiliation":[{"name":"Morgan Adams Foundation Pediatric Brain Tumor Research Program, Center for Cancer and Blood Disorders , Children\u2019s Hospital Colorado"},{"name":"Division of Pediatric Hematology \/ Oncology, Department of Pediatrics, University of Colorado Denver , Aurora, Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Gilani","sequence":"additional","affiliation":[{"name":"Morgan Adams Foundation Pediatric Brain Tumor Research Program, Center for Cancer and Blood Disorders , Children\u2019s Hospital Colorado"},{"name":"Department of Pathology, University of Colorado Denver , Aurora, Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Morgan Adams Foundation Pediatric Brain Tumor Research Program, Center for Cancer and Blood Disorders , Children\u2019s Hospital Colorado"},{"name":"Division of Pediatric Hematology \/ Oncology, Department of Pediatrics, University of Colorado Denver , Aurora, Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,11,26]]},"reference":[{"key":"2024032523345687900_nlaa091-B1","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1056\/NEJMra1607548","article-title":"Langerhans-cell histiocytosis","volume":"379","author":"Allen","year":"2018","journal-title":"N Engl J Med"},{"key":"2024032523345687900_nlaa091-B2","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1007\/s00277-019-03678-y","article-title":"Pediatric Langerhans cell histiocytosis: The impact of 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