Alteraciones endocrinas en las histiocitosis de la región hipotálamo hipofisaria

Galván, Silvia Toro; Vilaseca, Alejandra Planas; Alevras, Theodora Michalopoulou; Díaz, Alberto Torres; Balaguer, Javier Suárez; Artero, Carles Villabona

doi:10.1016/j.endonu.2014.10.004

Cited by 13 publications

(8 citation statements)

References 24 publications

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“…The central nervous system (CNS) may also be involved [ 2 , 21 ]. In patients with LCH in the HP region, most cases are extended from osseous foci in multifocal or disseminated LCH, but unifocal or multifocal infiltrates can occur primarily within or even restricted to the HP region and other sites, such as the infundibulum, optic chiasm, and choroid plexus [ 2 – 7 , 22 , 23 ]. However, isolated HPLCH without the involvement of other organs is a rare condition, and there are few reports on the various characteristics of this disease state, including the evaluation of pituitary function, especially anterior pituitary function, the BRAF V600E mutation status, and other clinicopathological features.…”

Section: Discussionmentioning

confidence: 99%

“…Additionally, CyberKnife radiosurgery was performed in some patients [ 2 , 21 , 28 – 30 ]. However, the treatment of HPLCH patients is controversial because localized radiotherapy and chemotherapy were associated with tumour regression and stabilization but did not appear to prevent the evolution or deterioration of LCH-associated endocrine deficiency [ 3 – 7 , 30 ]. In our cohort, although remission was observed in the lesions of two patients after radiotherapy (30.5 Gy) and the lesion of another patient who received surgical resection after CyberKnife radiosurgery failure, the patients’ quality of life was irreversibly impaired because they had irreversible permanent sequelae, panpituitary hormone deficiency, and needed to receive goal-directed hormone replacement therapy and monitor hormone level changes permanently.…”

Section: Discussionmentioning

confidence: 99%

“…LCH can affect any organ or system and may be systemic or localized [ 1 , 2 ]. Patients with isolated hypothalamic-pituitary (HP) LCH are very rare, although patients with multisystemic LCH often show pituitary gland involvement [ 3 – 7 ]. Among the endocrine regions, LCH is frequently found in the HP region, resulting in diabetes insipidus (DI), the most common endocrine anomaly [ 8 – 12 ].…”

Section: Introductionmentioning

confidence: 99%

“…Several studies on LCH patients, which examined relatively small numbers of patients, have provided information on the evolution of pituitary dysfunction as well as the morphological changes in the HP region [ 3 – 7 ]. However, no large studies have examined patients with isolated HPLCH and assessed the pituitary function without interference from other organs.…”

Section: Introductionmentioning

confidence: 99%

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Clinicopathological features and BRAFV600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis

et al. 2016

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BackgroundIsolated hypothalamic-pituitary Langerhans cell histiocytosis (HPLCH) is very rare. We investigated the clinicopathological characteristics, endocrine function changes, BRAFV600E 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 BRAFV600E 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 BRAFV600E 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 BRAFV600E 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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinicopathological features and BRAFV600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis

et al. 2016

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“…More than 650 cases have been described in the literature worldwide [ 5 ]. In contrast, the osseous involvement of LCH is typically lytic lesions which can involve any bone of the body [ 6 , 7 ]. The skeletal or extraskeletal lesions in ECD are the result of infiltration of foamy macrophages (which do not bear the characteristic markers of Langerhans' cells) into these structures.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome

Nabi

Arshad

Jain

et al. 2015

Case Reports in Pathology

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A 48-year-old woman with a past medical history of seizures and end-stage renal disease secondary to obstructive uropathy from retroperitoneal fibrosis presented to the emergency department with seizures and altered mental status. A Glasgow Coma Scale of 4 prompted intubation, and she was subsequently admitted to the intensive care unit. Magnetic resonance imaging of the brain performed to elucidate the aetiology of her seizure showed a dural-based mass within the left temporoparietal lobe as well as mass lesions within the orbits. Further imaging showed extensive retroperitoneal fibrosis extending to the mediastinum with involvement of aorta and posterior pleural space. Imaging of the long bones showed bilateral sclerosis and cortical thickening of the diaphyses. Imaging of the maxillofacial structures showed osseous destructive lesions involving the mandible. These clinical and radiological features were consistent with a diagnosis of Erdheim-Chester disease; however, the patient's skin biopsy was consistent with Langerhans cell histiocytosis.

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Late Effects of Langerhans Cell Histiocytosis and the Association of LCH with Malignancy

Nanduri

Torno

Haupt

2017

Histiocytic Disorders

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Alteraciones endocrinas en las histiocitosis de la región hipotálamo hipofisaria

Cited by 13 publications

References 24 publications

Clinicopathological features and BRAFV600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis

Clinicopathological features and BRAFV600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis

A Rare Case of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome

Late Effects of Langerhans Cell Histiocytosis and the Association of LCH with Malignancy

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