Background: Isolated hypothalamic-pituitary Langerhans cell histiocytosis (HPLCH) is very rare. We investigated the\nclinicopathological characteristics, endocrine function changes, BRAFV600E mutations and treatments of isolated\nHPLCH.\nMethods: We identified seven patients with isolated HPLCH by reviewing the clinical and pathological files in our\nhospital from 2007 to 2015. The clinical characteristics of the seven patients were retrospectively reviewed,\nespecially the endocrine function changes. Immunostaining and mutation profiling of BRAFV600E were performed.\nResults: The seven HPLCH patients included three men and four women, aged 9ââ?¬â??47 years. All patients presented\nwith symptoms of central diabetes insipidus (CDI), and four displayed anterior pituitary hypofunction as well.\nMagnetic resonance imaging showed hypothalamic-pituitary axis involvement in all patients. There was no\nevidence for the involvement of other organs in all seven patients. Langerhans cell histiocytosis was confirmed by\nneuroendoscopic procedures, and immunohistochemical staining showed that all cases (7/7) were positive for\nCD68, CD1a, Langerin, and S-100. The BRAFV600E mutation was detected in three of the six cases (3/6). Six patients\nhad follow-up information; all received desmopressin acetate and high-dose corticosteroid therapy, and two\npatients received radiotherapy.\nConclusions: Our study indicated that all patients with isolated HPLCH had CDI as the earliest symptom, and more\nthan half of the patients had anterior pituitary deficiencies. The BRAFV600E mutation is a common genetic change in\nHPLCH patients. Treatment of HPLCH patients is difficult, and the progressive loss of endocrine function is\nirreversible in most cases.
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