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| Alexandraki KI, Makras P, Protogerou AD, Dimitriou K, Stathopoulou A, Papadogias DS, Voidonikola P, Piaditis G, Pittas A, Papamichael CM, Grossman AB, Kaltsas G |
Cardiovascular risk factors in adult patients with multisystem Langerhans-cell histiocytosis: evidence of glucose metabolism abnormalities. |
QJM : monthly journal of the Association of Physicians 2008, 101: 31 |
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| Langerhans-cell histiocytosis (LCH) is a rare disease with features of chronic inflammation and it may also induce hypopituitarism, conditions associated with an increased risk of cardiovascular diseases. |
| Allen CE |
Personal communication about. |
In: Neurodegenerative central nervous system Langerhans cell histiocytosis and coincident hydrocephalus treated with vincristine/cytosine arabinoside 2010 |
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| Allen CE, Flores R, Rauch R, Dauser R, Murray JC, Puccetti D, Hsu DA, Sondel P, Hetherington M, Goldman S, McClain KL |
Neurodegenerative central nervous system Langerhans cell histiocytosis and coincident hydrocephalus treated with vincristine/cytosine arabinoside. |
Pediatric blood & cancer 2010, 54: 416 |
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| Central nervous system (CNS) complications of Langerhans cell histiocytosis (LCH) include mass lesions and a neurodegenerative (ND) syndrome with ataxia, dysarthria, dysmetria, learning and behavior difficulties and/or characteristic changes on brain MRIs. Hydrocephalus has rarely been reported in LCH. LCH lesions of the orbit, mastoid and temporal bones ( |
| Amato MC, Elias LL, Elias J, Santos AC, Bellucci AD, Moreira AC, De Castro M |
Endocrine disorders in pediatric - onset Langerhans Cell Histiocytosis. |
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2006, 38: 746 |
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| Langerhans Cell Histiocytosis (LCH) is a rare disorder with a great variety of clinical manifestations. The purpose of this retrospective study was to evaluate the pattern and the long-term course of clinical, laboratorial and radiological findings in pediatric-onset LCH. We reviewed 46 children with histological diagnosis of LCH. Ten children (22%) showed endocrine disorders. Central diabetes insipidus (DI) was observed in all ten patients; GH deficiency was confirmed in four and hypogonadism in two children. There were no adrenal, prolactin or thyroid axis abnormalities. Obesity was observed in three patients. Eight patients showed soft tissue infiltration and five bone involvement. The MRI showed a lack of posterior pituitary bright spot in all DI patients; infundibular infiltration (II) associated or not with sellar or supra-sellar mass was observed in 4 patients. We conclude that the investigation of LCH, a multi-systemic disease, should include central nervous system images. The presence of II and/or DI should raise the diagnosis of LCH. Complete endocrine evaluation, allowing an early hormone therapy, is required to obtain a better quality of life in children with LCH. |
| Ananthakrishnan S |
Diabetes insipidus in pregnancy: etiology, evaluation, and management. |
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2009 May-Jun; 15: 377 |
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| To review the approach to a patient with diabetes insipidus during pregnancy. |
| Arceci RJ |
Biological and Therapeutic Implications of the BRAF Pathway in Histiocytic Disorders. |
American Society of Clinical Oncology educational book / ASCO. American Society of Clinical Oncology. Meeting 2014, 34:e441 |
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| Langerhans cell histiocytosis (LCH) has historically evolved in its classification from a primary immune dysregulatory disorder to what current evidence supports as a dendritic cell neoplasm with an immune-inflammatory component. A key part of the classification of LCH as a neoplasm has been the identification of BRAF V600E mutations in 35% to 60% of cases. Tumor protein p53 (TP53) and RAS mutations have also been identified, albeit in less than 2% of reported cases. Of note, over 50% of patients with another dendritic cell disease, Erdheim-Chester Disease, have also been shown to have BRAF V600E mutations. Although the BRAF mutations have not been shown to be associated with extent of disease, they may still provide a target for a molecularly guided approach to therapy. In cases of LCH in which no BRAF mutations were identified, there was evidence for activation of the RAS-RAF-MEK-extracellular signal-regulated kinases (ERK) pathway, suggesting that similar to other tumors, this pathway may be therapeutically exploitable. Anecdotal responses have been reported in a few patients with LCH and Erdheim-Chester Disease to vemurafenib, a BRAF V600E inhibitor. Although these results pave the way for careful, prospective clinical testing, selection of the optimal groups in which to test such inhibitors, alone or in combination, will be critical based on the toxicity profile thus far observed in adults with melanoma and other BRAF mutated tumors. |
| Aricò M, Nichols K, Whitlock JA, Arceci R, Haupt R, Mittler U, Kühne T, Lombardi A, Ishii E, Egeler RM, Danesino C |
Familial clustering of Langerhans cell histiocytosis. |
British journal of haematology 1999, 107: 883 |
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| Langerhans cell histiocytosis (LCH) is considered a non-hereditary disorder. Evaluation of the few familial cases might provide insight into its aetiology and pathogenesis. We conducted a survey to identify familial LCH cases. Data on family history, zygosity assessment in twins, clinical and laboratory features, treatment outcome, and present status were collected. According to variable confidence for twins monozygosity assessment, we termed these pairs 'presumed monozygotic' (pMZ). Nine families had more than one affected relative: five with LCH-concordant twin pairs, four with LCH in siblings or cousins. Three twin pairs not concordant for LCH were also studied. Overall, four of five pMZ twin pairs and one of three dizygotic (DZ) pairs were concordant for LCH. The pMZ twins had simultaneous and early disease onset (mean age 5.4 months); onset was at 21 months in the DZ pair. Clinical features were similar in the pMZ pairs. One pair of DZ twins had disseminated LCH. The three healthy twins (one pMZ, two DZ) remain asymptomatic 0.3, 5.9 and 4.7 years, respectively, after disease onset in their co-twins. Of the two families with affected non-twin siblings, one had known parental consanguinity and the other possible consanguinity. Potential consanguinity was also present in one of the two families with affected first cousins. Our data support high LCH concordance rates in pMZ twins and add the finding of LCH concordance in one of three dizygotic pairs studied. Taken together with our identification of LCH in siblings and first cousins from known or possibly consanguineous families, and with prior reports of three affected parent-child pairs, the data support a role for genetic factor(s) in LCH. The work-up of newly diagnosed patients should include a careful, extensive family history and chromosome studies. When possible, constitutional and/or lesional DNA should be obtained for future study. |
| Aricò M, Girschikofsky M, Généreau T, Klersy C, McClain K, Grois N, Emile JF, Lukina E, De Juli E, Danesino C |
Langerhans cell histiocytosis in adults. Report from the International Registry of the Histiocyte Society. |
European journal of cancer (Oxford, England : 1990) 2003, 39: 2341 |
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| Langerhans cell histiocytosis (LCH), characterised by the infiltration of one or more organs by large mononuclear cells, can develop in persons of any age. Although the features of this disease are well described in children, they remain poorly defined in adults. From January 2000 to June 2001, 274 adults from 13 countries, with biopsy-proven adult LCH, were registered with the International Histiocyte Society Registry. Information was collected about clinical presentation, family history, associated conditions, cigarette smoking and treatment, to assist in future management decisions in patients aged 18 years and older. There were slightly more males than females (143:126), and the mean ages at the onset and diagnosis of disease were 33 years (standard deviation (S.D.) 15 years) and 35 years (S.D. 14 years), respectively. 2 patients had consanguineous parents, and 1 had a family history of LCH; 129 reported smoking (47.1%); 17 (6.2%) had been diagnosed with different types of cancer. Single-system LCH, found in 86 patients (31.4%), included isolated pulmonary involvement in 44 cases; 188 patients (68.6%) had multisystem disease; 81 (29.6%) had diabetes insipidus. Initial treatment consisted of vinblastine administered with or without steroids, to 82 patients (29.9%), including 9 who had received it with etoposide, which was the sole agent given to 19 patients. 236 patients were considered evaluable for survival. At a median follow-up of 28 months from diagnosis, 15 patients (6.4%) had died (death rate, 1.5/100 person years, 95% Confidence Interval (95% CI) 0.9-2.4). The probability of survival at 5 years postdiagnosis was 92.3% (95% CI 85.6-95.9) overall, 100% for patients with single-system disease (n=37), 87.8% (95% CI 54.9-97.2) for isolated pulmonary disease (n=34), and 91.7% (95% CI 83.6-95.9) for multisystem disease (n=163). Survival did not differ significantly among patients with multisystem disease, with or without liver or lung involvement) 5-year survival 93.6% (95% CI 84.7-97.4) versus 87.5% (95% CI 65.5-95.9), respectively; P value 0.1). LCH in adults is most often a multisystem disease with the highest mortality seen in patients with isolated pulmonary involvement. It should be included in the differential diagnosis of disseminated or localised disease of the bone, skin and mucosa, as well as the lung and the endocrine and central nervous system, regardless of the age of the patient. A prospective international therapeutic study is warranted. |
| Atalar B, Miller RC, Dincbas FO, Geismar JH, Micke O, Akyurek S, Ozyar E |
Adult langerhans cell histiocytosis of bones : a rare cancer network study. |
Acta orthopaedica Belgica 2010, 76: 663 |
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| Langerhans Cell Histiocytosis (LCH) is an uncommon benign bone tumour typically seen in children. LCH of bones in adults has been reported as solitary cases. The aim of the current study is to analyze different treatment approaches and the role of radiotherapy (RT) in adult LCH. Thirty patients from five Rare Network Cancer centers were included in this retrospective study. Median age was 30 years. The localization of tumours was skull bones in 12 (40%), lower extremity in 6 (20%), thoracic bones in 4 (133%), spine in 3 (10%), pelvis in 2 (6.7%) and multiple sites in 3 (10%) patients. Primary treatment was surgery in 1 (33%), surgery+ radiotherapy (RT) in 15 (50%), RT in 12 (40%), RT + CHT in 1 (33%) and corticosteroids in 1 (33%) patient. Median follow-up was 58 months. Complete remission was obtained in 21 (70%), partial remission in 4 (133%); 2 lesions were stable (6.7%) and progression was noted in 2 (6.7%) of the patients. Nine patients (30%) had recurrent disease. Recurrence rates were significantly lower in patients who were treated with surgery and RT (p < 0.003). Surgery plays a major role in the treatment of adult LCH of bones ; radiotherapy should be considered in the adjuvant setting and palliation. |
| Auerswald U, Barth J, Magnussen H |
Value of CD-1-positive cells in bronchoalveolar lavage fluid for the diagnosis of pulmonary histiocytosis X. |
Lung 1991, 169: 305 |
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| Pulmonary histiocytosis X is characterized by an accumulation of CD-1-positive histiocytosis X cells in the lung, which also can be found in the bronchoalveolar lavage fluid (BALF). However, it has recently been demonstrated that CD-1-positive cells can also be detected in BALF of patients with other interstitial lung diseases and in healthy smokers. We therefore examined the frequency of CD-1-positive cells in a pool of patients with different pulmonary disorders, according to their smoking habits and diagnoses. We have studied the bronchoalveolar lavage in patients with pulmonary histiocytosis X (n = 6), sarcoidosis (n = 88), and in 97 patients with other miscellaneous lung disorders by using the immunoperoxidase method to detect CD-1-positive cells on glass slides. All patients with histologically proven histiocytosis X displayed more than 5% CD-1-positive cells, whereas patients with other pulmonary disorders showed no more than 3.6% CD-1-positive BAL cells. The dividing line of 5% CD-1-positive cells was not influenced by patients' smoking habits. The identification of CD-1-positive cells in BALF appears to be useful in diagnosing pulmonary histiocytosis X. |
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