Clinicopathological features and BRAFV600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosisReportar como inadecuado

Clinicopathological features and BRAFV600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Diagnostic Pathology

, 11:100

First Online: 19 October 2016Received: 24 May 2016Accepted: 05 October 2016


BackgroundIsolated hypothalamic-pituitary Langerhans cell histiocytosis HPLCH is very rare. We investigated the clinicopathological characteristics, endocrine function changes, BRAF mutations and treatments of isolated HPLCH.

MethodsWe identified seven patients with isolated HPLCH by reviewing the clinical and pathological files in our hospital from 2007 to 2015. The clinical characteristics of the seven patients were retrospectively reviewed, especially the endocrine function changes. Immunostaining and mutation profiling of BRAF were performed.

ResultsThe seven HPLCH patients included three men and four women, aged 9–47 years. All patients presented with symptoms of central diabetes insipidus CDI, and four displayed anterior pituitary hypofunction as well. Magnetic resonance imaging showed hypothalamic-pituitary axis involvement in all patients. There was no evidence for the involvement of other organs in all seven patients. Langerhans cell histiocytosis was confirmed by neuroendoscopic procedures, and immunohistochemical staining showed that all cases 7-7 were positive for CD68, CD1a, Langerin, and S-100. The BRAF mutation was detected in three of the six cases 3-6. Six patients had follow-up information; all received desmopressin acetate and high-dose corticosteroid therapy, and two patients received radiotherapy.

ConclusionsOur study indicated that all patients with isolated HPLCH had CDI as the earliest symptom, and more than half of the patients had anterior pituitary deficiencies. The BRAF mutation is a common genetic change in HPLCH patients. Treatment of HPLCH patients is difficult, and the progressive loss of endocrine function is irreversible in most cases.

KeywordsLangerhans cell histiocytosis Hypothalamic-pituitary Central diabetes insipidus Anterior pituitary function BRAF mutation AbbreviationsACTHAdrenocorticotropic hormone

APAnterior pituitary

CDICentral diabetes insipidus

CNSCentral nervous system

CTComputed tomography


ECDErdheim-Chester disease

FSHFollicle-stimulating hormone

FSHFollicle-stimulating hormone

FT4Free thyroxine

GHGrowth hormone

GHDGrowth hormone deficiency


IGF1Insulin-like growth factor-1

LCHLangerhans cell histiocytosis

LCHLangerhans cell histiocytosis

LHLuteinizing hormone

LHLuteinizing hormone

MRIMagnetic resonance imaging


QPCRQuantitative polymerase chain reaction



TSHThyroid-stimulating hormone

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Autor: Zhen Huo - Tao Lu - Zhiyong Liang - Fan Ping - Jie Shen - Jingjing Lu - Wenbing Ma - Dachun Zhao - Dingrong Zhong


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