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1.
Medicine (Baltimore) ; 98(21): e15779, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31124970

RESUMO

To assess characteristics and outcomes of patients hospitalized with interstitial lung diseases (ILD) and to analyze patient's comorbidities, procedures, and in-hospital outcomes.We identified patients hospitalized with idiopathic pulmonary fibrosis and others ILD such as hypersensitivity pneumonitis, cryptogenic organizing pneumonia, lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis, and sarcoidosis in Spain during 2014 and 2015.We identified 14,565 discharges among patients admitted for ILD in Spain during the study period: idiopathic pulmonary fibrosis (IPF) in 42.32% (n = 6164), sarcoidosis in 37.65% (n = 5484), hypersensitivity pneumonitis in 10.55% (n = 1538), cryptogenic organizing pneumonia in 7.06% (n = 1028), pulmonary Langerhans cell histiocytosis in 1.48% (n = 215), and lymphangioleiomyomatosis in 0.94% (n = 136). The most common associated comorbidities according to those included in the Charlson Comorbidity Index (CCI) were COPD, diabetes, and congestive heart disease. The presence of pulmonary hypertension increased the probability of dying in patients with idiopathic pulmonary fibrosis (OR 1.36; 95%CI 1.06-1.73). Patients with cryptogenic organizing pneumonia had the longest length of hospital stay and the highest percentage of hospital readmissions (23.64%). The highest IHM corresponded to the idiopathic pulmonary fibrosis (14.94%). Computed tomography of the chest was the procedure more used during admissions for ILD.IPF was responsible for larger percentage of hospital admission among ILD in our study. In addition, the IHM were higher in IPF patients in comparison with those with other ILD. The most common associated comorbidity in ILD according to those included in the CCI was COPD. Computed tomography of the chest was the procedure more frequently used.


Assuntos
Diabetes Mellitus/epidemiologia , Insuficiência Cardíaca/epidemiologia , Hospitalização/estatística & dados numéricos , Doenças Pulmonares Intersticiais/epidemiologia , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alveolite Alérgica Extrínseca/diagnóstico por imagem , Alveolite Alérgica Extrínseca/epidemiologia , Criança , Comorbidade , Pneumonia em Organização Criptogênica/diagnóstico por imagem , Pneumonia em Organização Criptogênica/epidemiologia , Feminino , Histiocitose de Células de Langerhans/diagnóstico por imagem , Histiocitose de Células de Langerhans/epidemiologia , Mortalidade Hospitalar , Humanos , Fibrose Pulmonar Idiopática/diagnóstico por imagem , Fibrose Pulmonar Idiopática/epidemiologia , Pulmão/diagnóstico por imagem , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sarcoidose/diagnóstico por imagem , Sarcoidose/epidemiologia , Espanha/epidemiologia , Tomografia Computadorizada por Raios X/estatística & dados numéricos , Adulto Jovem
2.
Ann Hematol ; 98(7): 1617-1626, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30923995

RESUMO

Langerhans cell histiocytosis (LCH) is a clonal histiocytic disorder with recurrent mutations of BRAF and MAP2K1, but data on the impact of genetic features on progression and long-term sequelae are sparse. Cases of pediatric LCH with long-term follow-up from our institution were analyzed for mutations in BRAFV600 and MAP2K1 exons 2 and 3 by immunostaining with mutation-specific VE1 antibody, as well as allele-specific PCR and sequencing, respectively. Clinical and follow-up data were obtained from our files and a questionnaire sent to all former patients. Sixteen of 37 (43%) evaluable cases showed BRAFV600E, one case a BRAFV600D and eleven (30%) a MAP2K1 mutation. Nine cases were unmutated for both genes. All cases with risk organ involvement showed either BRAFV600 or MAP2K1 mutation. Patients with BRAFV600 mutation excluding Hashimoto-Pritzker cases had a significantly higher risk for relapses (p = 0.02). Long-term sequelae were present in 19/46 (41%) patients (median follow-up 12.5 years, range 1.0 to 30.8) with a trend for higher rates in mutated cases (mutated = 9/17, 53% versus non-BRAFV600/MAP2K1 mutated = 2/7, 29%). In addition, 8/9 cases with skin involvement including all Hashimoto-Pritzker cases (n = 3) were positive for BRAFV600E. Infants below 2 years more frequently had BRAFV600 mutations (p = 0.013). Despite favorable prognosis, pediatric LCH shows a high frequency of relapses and long-term medical sequelae.


Assuntos
Histiocitose de Células de Langerhans/genética , MAP Quinase Quinase 1/genética , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/terapia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Risco , Dermatopatias/epidemiologia , Dermatopatias/genética , Dermatopatias/patologia , Dermatopatias/terapia
4.
Int J Pediatr Otorhinolaryngol ; 112: 109-112, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30055718

RESUMO

OBJECTIVE: To examine the types of pediatric middle ear tumors and review the demographics, management, and survival of pediatric patients with rhabdomyosarcoma (RMS) of the middle ear. METHODS: Pediatric patients in the Surveillance, Epidemiology, and End Results (SEER) database were included from 1973 to 2014 based on a diagnosis of middle ear tumors using the ICD O-3 code: C30.1: Middle ear primary site. Patients were included from ages 0-18 years. RESULTS: Forty pediatric middle ear tumor cases were identified. Twenty patients were female (50%). Twenty-seven (67.5%) cases were rhabdomyosarcomas (RMS). Pediatric RMS patients tended to be diagnosed in early childhood (mean age 5.30 years, standard deviation 2.9, range 1.00-13.00, 59.3% of patients were ages 5 or below). Most pediatric RMS patients received chemotherapy and radiation therapy as part of the treatment regimen (88.8%). Finally, the 5-year overall and disease-specific survival rates were 59% and 63% respectively. CONCLUSIONS: Pediatric middle ear tumors are rare. Females and male pediatric patients are both at risk for middle ear tumors. RMS is the most common malignant middle ear tumor affecting pediatric patients. Despite the use of multimodality therapies, survival rates for pediatric patients with RMS of the middle ear are low. Physicians may consider including middle ear tumors on the differential diagnosis for pediatric patients with symptoms presenting similarly to non-resolving otitis media.


Assuntos
Neoplasias da Orelha/epidemiologia , Orelha Média , Rabdomiossarcoma Embrionário/epidemiologia , Adenocarcinoma Papilar/epidemiologia , Adolescente , Distribuição por Idade , Quimiorradioterapia , Criança , Pré-Escolar , Terapia Combinada , Gerenciamento Clínico , Neoplasias da Orelha/mortalidade , Neoplasias da Orelha/terapia , Feminino , Histiocitose de Células de Langerhans/epidemiologia , Humanos , Lactente , Estimativa de Kaplan-Meier , Masculino , Tumores Neuroectodérmicos Primitivos Periféricos/epidemiologia , Procedimentos Cirúrgicos Otorrinolaringológicos , Prognóstico , Rabdomiossarcoma/epidemiologia , Rabdomiossarcoma/mortalidade , Rabdomiossarcoma/terapia , Rabdomiossarcoma Embrionário/mortalidade , Rabdomiossarcoma Embrionário/terapia , Programa de SEER , Distribuição por Sexo , Taxa de Sobrevida , Estados Unidos/epidemiologia
5.
Rev. cuba. hematol. inmunol. hemoter ; 34(1): 68-74, ene.-mar. 2018. ilus
Artigo em Espanhol | LILACS | ID: biblio-978411

RESUMO

La histiocitosis de células de Langerhans es un trastorno celular dendrítico, resultado de la proliferación clonal de este tipo de células, morfológicamente redondeadas e inmaduras inmunofenotípica y funcionalmente; asociadas con eosinófilos, macrófagos, linfocitos y células multinucleadas gigantes, en ocasiones. Puede presentarse de forma monosistémica, cuando afecta a un solo sitio u órgan; o multisistémica cuando se presenta en múltiples órganos o sistemas corporales. La literatura médica y las publicaciones en las que se asocia la imaginología al estudio y caracterización de las enfermedades hematológicas son escasas, aun en la era tecnológica. En este trabajo se presenta un caso de histiocitosis de células de Langerhans que fue seguido imaginológicamente durante 3 años con el consiguiente apoyo al diagnostico, tratamiento, seguimiento y valoración; lo que demuestra la utilidad de la Imaginología como herramienta para lograr un mejor manejo del paciente y como principio de la atención medica multidisciplinaria(AU)


Langerhans cells histiocytosis is a dendritic cell disorder, result of clonal proliferation of this type of cells, morphologically rounded and immature immunophenotypically and functionally; associated with eosinophils, macrophages, lymphocytes and giant multinucleated cells at times. It can present monosystemic, affecting a single site or organ; or multisystemic disease when present in multiple organs or body systems. Medical literature and publications in which imaging is associated with the study and characterization of hematological diseases are scarce, even in the technological era. This paper presents a case of Langerhans cells histiocytosis that was followed imaging during 3 years with the subsequent support to diagnosis, treatment, monitoring and evaluation; demonstrating the usefulness of imaging as tool to achieve better patient management and as a principle of multidisciplinary medical care(AU)


Assuntos
Humanos , Feminino , Lactente , Terapia por Raios X/métodos , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/diagnóstico por imagem , Relatos de Casos
6.
Prev. tab ; 19(4): 158-163, oct.-dic. 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-171157

RESUMO

Es conocido desde hace muchos años que el tabaquismo puede causar daño pulmonar. Entre las enfermedades comúnmente relacionadas con el tabaco tenemos la enfermedad pulmonar obstructiva crónica y el cáncer de pulmón. En los últimos años, la atención también se ha centrado en el papel del tabaquismo en el desarrollo de enfermedades pulmonares intersticiales difusas (EPID). De hecho, existen tres enfermedades, la bronquiolitis respiratoria asociada a EPID, la neumonía intersticial descamativa y la histiocitosis pulmonar de células de Langerhans, que actualmente se consideran etiológicamente vinculadas al tabaquismo y algunas otras que tienen más probabilidades de desarrollarse en fumadores. El papel del tabaquismo en la patogénesis de las EPID será el centro de esta revisión (AU)


It has been known for many years that the smoking habit can cause lung damage. Among the diseases commonly related with tobacco are chronic obstructive pulmonary disease and lung cancer. In recent years, attention has also been focused on the role of the smoking habit in the development of diffuse interstitial lung diseases (DILD). In fact, there are three diseases, respiratory bronchiolitis associated to DILD, desquamative interstitial pneumonia and pulmonary Langerhans’ cell histiocytosis, which are currently considered etiologically linked to the smoking habit and others that have more likelihood of developing in smokers. The role of smoking habit in the pathogenesis of DILD will be the focus of this review (AU)


Assuntos
Humanos , Doenças Pulmonares Intersticiais/epidemiologia , Tabagismo/complicações , Bronquiolite/epidemiologia , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Histiocitose de Células de Langerhans/epidemiologia , Fibrose Pulmonar/epidemiologia , Neoplasias Pulmonares/epidemiologia , Biomarcadores/análise
7.
Arch Dis Child ; 102(9): 830-835, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28442470

RESUMO

INTRODUCTION: Langerhans cell histiocytosis (LCH) is a rare disease with diverse clinical courses. Despite improvement in survival outcomes in the recent decades, sequelae of the disease remain a concern. This study aimed to provide information on the long-term outcomes in patients with LCH, particularly on the sequelae and any associated factors. METHOD: Medical records of patients with diagnosis of LCH and being managed in our centre were retrospectively reviewed. Data on the courses of illness, mortality, intervention, types and time of late events were collected and analysed. RESULTS: 70 patients were included with a mean observation time of 12 years (median 10.7 years, range 1-31.3 years). Sequelae related to LCH were present in 56% (n=39), being more common in multisystem diseases and patients with reactivations. Prevalence of sequelae is as follows: orthopaedic related 27%, diabetes insipidus 19%, growth retardation 13%, cosmetic 10%, neurological 7%, hearing 7%, anterior pituitary hormone deficiency 7%, hepatobiliary 4% and ophthalmological 3%. Neurological sequelae could manifest even 10 years after initial diagnosis of LCH. Reactivations, presence of central nervous system (CNS) risk lesions and treatment with radiotherapy were associated with a higher rate of sequelae. The cumulative incidence of reactivation was 34%. Most reactivations occurred in the first 2.5 years after diagnosis. CONCLUSION: Sequelae were common after LCH, although some were mild. Neurological sequelae could be particularly severe and debilitating. Vigilant long-term follow-up would be essential for optimising patient outcomes. Further studies on the prevention and treatment of CNS disease of LCH are warranted.


Assuntos
Histiocitose de Células de Langerhans/complicações , Adolescente , Criança , Pré-Escolar , Progressão da Doença , Doenças do Sistema Endócrino/epidemiologia , Doenças do Sistema Endócrino/etiologia , Feminino , Seguimentos , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/terapia , Hong Kong/epidemiologia , Humanos , Incidência , Lactente , Estimativa de Kaplan-Meier , Masculino , Doenças Musculoesqueléticas/epidemiologia , Doenças Musculoesqueléticas/etiologia , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/etiologia , Prognóstico , Recidiva , Estudos Retrospectivos
8.
Ann Palliat Med ; 6(2): 159-164, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28061539

RESUMO

BACKGROUND: The present study presents 18 cases of Chinese patients harboring a Langerhans cell histiocytosis (LCH) of the skull. METHODS: Eighteen consecutive patients were diagnosed as LCH of the skull and confirmed pathologically between March 2002 and February 2014. In the present study, the patients of LCH without skull involvement were excluded. According to disease extent at diagnosis, the 18 LCH patients with skull involvement were divided into three groups: (I) unifocal-monosystem group, including ten cases with solitary skull lesion; (II) multifocal-monosystem group, including two cases with multiple bone lesions and no extra-skeletal involvement; (III) multisystem group, including six cases with LCH lesions involving both skeletal and extra-skeletal system. In unifocal-monosystem group, excision of the skull lesion was performed in eight of ten cases, a low dosage of local radiotherapy and a purposeful observation was accept by the remaining two cases of this group after biopsy respectively. In multifocal-monosystem group, both of the two cases were received chemotherapy. In multi-system group, all the six cases were managed with systemic chemotherapy, after their diagnoses of LCH were confirmed. RESULTS: The mean age at the time of diagnosis was 9.4 years. There was a male predominance in this disease male/female ratio was 3.5:1. In our cases, a skull mass with or without tenderness was the most common chief complaint (13 cases, 72.2%), and frontal bone was the most frequent affected locations of skull (6 cases, 33.3%). In unifocal-monosystem group, nine of ten remained free from LCH, the remain one lesion recurred 22 months after his surgical excision. In multifocal-monosystem group, a complete response (CR) was obtained in one of them, and a stable disease (SD) of multiple osseous lesions was obtained in another one. In the multi-system group, a CR in four cases and a partial response (PR) in one case were obtained, and a progressive disease (PD) was observed in the remaining one. CONCLUSIONS: The unifocal-monosystem of LCH of the skull is a clinicopathological entity with a good outcome, and resection, irradiation or purposeful observation are also can be been utilized as the choice of treatment. For the multifocal bone lesions and multisystem lesions of LCH, chemotherapy is an effective treatment as a systemic therapy. There is no enough publication literature to determine guidelines or indications for managing this disease.


Assuntos
Histiocitose de Células de Langerhans/epidemiologia , Crânio , Adolescente , Adulto , Fatores Etários , Antineoplásicos/uso terapêutico , Criança , Pré-Escolar , China/epidemiologia , Feminino , Histiocitose de Células de Langerhans/tratamento farmacológico , Histiocitose de Células de Langerhans/patologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores Sexuais
9.
Presse Med ; 46(1): 85-95, 2017 Jan.
Artigo em Francês | MEDLINE | ID: mdl-28087208

RESUMO

DEFINITION: Langerhans cell histiocytosis (LCH) is defined by the association of a clinical and radiological involvement and a biopsy of a pathological tissue. Extension: it can affect any organ or system of the body but most commonly the bone (80% of cases), the skin (33%) and the pituitary (25%). Other organs are concerned such as liver, spleen, hematopoietic system and the lungs (15% each), lymph nodes (5-10%) and central nervous system (CNS) excluding the pituitary (2-4%). Natural history: the natural history of the disease is very heterogeneous, ranging from auto-regressive lesions to a disease affecting multiple organs with fatal consequences, while some lesions may be responsible for permanent sequels. A multidisciplinary approach: the perception of disease from physicians varies greatly depending on their speciality and experience, as well as the presentation of the disease or the short-term treatment outcomes. But whatever the initial view of the treating physician, a multidisciplinary approach to the LCH is recommended as well as the coordination of the necessary care of this systemic disease and its associated morbidity. THERAPY: current treatment protocols, adapted to the situation of each patient, provide a survival of 98% in children. The sequels, such as diabetes insipidus, hormonal deficits, deafness and even more rarely respiratory failure and sclerosing cholangitis are seen in up to 30% of children.


Assuntos
Histiocitose de Células de Langerhans , Idade de Início , Criança , Pré-Escolar , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/terapia , Humanos
10.
Presse Med ; 46(1): 55-69, 2017 Jan.
Artigo em Francês | MEDLINE | ID: mdl-27816338

RESUMO

Langerhans cell histiocytosis (LCH) is a rare disease affecting both genders and can occur at any age. It often evolves through successive flares, and its severity varies from benign forms that don't require treatment to life threatening disease. Some patients have important functional impairment with psychological and social consequences and prolonged disability. LCH may affect only one organ, with uni- or multifocal involvement or be multisystem disease involving multiple organs. The organs most frequently involved are bones, lung, skin and the endocrinal system. Pulmonary LCH is strongly related to smoking. Some patients have mixed histocytosis combining LCH and other histiocytic disorders. The diagnosis relies on the histological study of tissues samples, and shows tissue infiltration with large cell with pale cytoplasm and reniform nucleus, staining for CD1a and Langerin (CD207) on immunohistochemistry. The BRAFV600E mutation is observed in tissue samples in approximately half of patients and the activation of the RAS-RAF-MEK-ERK pathway has been shown to be constantly activated in LCH lesions, regardless the BRAF status. These findings represent an important forward step in the understanding of the physiopathology of the disease. Treatment must be adapted to the severity of the disease and goes from conservative observation to systemic chemotherapy. Therapies targeting the RAS-RAF-MEK-ERK pathway are promising treatments for progressive disease.


Assuntos
Histiocitose de Células de Langerhans , Adulto , Idade de Início , Progressão da Doença , Feminino , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/etiologia , Histiocitose de Células de Langerhans/terapia , Humanos , Masculino
11.
Presse Med ; 46(1): 70-78, 2017 Jan.
Artigo em Francês | MEDLINE | ID: mdl-27816342

RESUMO

There is a strong relationship between tobacco smoking and pulmonary Langerhans cell histiocytosis (LCH) in adults. Definitive diagnosis relies on lung histology. In certain cases, the diagnosis can be retained on a typical nodulo-cystic pattern on lung high-resolution computed tomography (HRCT) and appropriate clinical setting. The main differential diagnoses to consider vary according to nodulo-cystic or only cystic pattern on lung HRCT and the clinical context. The natural history of the disease is better known and regular evaluation of respiratory function is essential during the follow-up of the patients. The disease may regress or remain stable and mild without treatment in a significant number of cases. Smoking cessation is the essential first step because it reduces the risk of early disease progression. Cladribine is the only treatment that has shown improvement in respiratory function. Its efficacy and tolerance will be clarified in the near future. Therapies targeting mutations in the MAPK pathway represent new therapeutic options that need to be appropriately evaluated pulmonary LCH.


Assuntos
Histiocitose de Células de Langerhans , Adulto , Idade de Início , Diagnóstico Diferencial , Progressão da Doença , Feminino , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/terapia , Humanos , Masculino , Radiografia Torácica
12.
Presse Med ; 46(1): 79-84, 2017 Jan.
Artigo em Francês | MEDLINE | ID: mdl-27816346

RESUMO

Langerhans cell histiocytosis (LCH) is a rare multisystemic disease. LCH is characterized by proliferation of myeloid progenitors with altered differentiation program and similar phenotypic features to epidermal dendritic cells termed Langerhans cell. LCH cells express CD1a+ and langerin and exhibit BRAF V600E mutation in ∼50% of cases. Neurological involvement or neuro-LCH is observed in 5 to 10% of cases. Three subtypes of neuro-LCH are individualized. The tumor type, accounting for 45% of neuro-LCH, affect mainly young adults. Tumor neuro-LCH is characterized by space occupying lesion(s) with contrast enhancement on MRI. Clinical symptoms are due to tumor brain location(s). Pathological examination of tumor neuro-LCH lesions reveals typical features of LCH. Treatment relies on surgical resection with/without chemotherapy. Degenerative neuro-LCH, accounting for 45% of cases, is usually revealed, mostly in children, by: (i) a cerebellar syndrome, (ii) a pyramidal syndrome, (iii) a pseubulbar palsy, and/or (iv) cognitive disorders. On MRI, several signs may coexist: (i) cortex atrophy, (ii) white matter T2 hyperintensities, and (iii) deep gray matter T1 hyperintensities. Pathological analysis of degenerative neuro-LCH lesions have been rarely performed and have never detected CD1a+ histiocytes but unspecific lesions (i.e. gliosis, neuronal loss and/or demyelination). Treatment of degenerative neuro-LCH patients is poorly standardized and poorly efficient. Functional rehabilitation and socio-educational care of these young patients are crucial. The mixed subtype of neuro-LCH combines clinico-radio-pathological characteristics of the first two first forms in the same patient, and represents 10% of neuro-HL. Neuro-HL, therefore, includes three very distinct entities with epidemiological, clinical, radiological and histological specific features requiring specific medical management.


Assuntos
Encefalopatias , Histiocitose de Células de Langerhans , Adulto , Idade de Início , Encefalopatias/epidemiologia , Encefalopatias/etiologia , Encefalopatias/patologia , Criança , Pré-Escolar , Histiocitose de Células de Langerhans/classificação , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/patologia , Humanos , Degeneração Neural/complicações , Degeneração Neural/epidemiologia , Degeneração Neural/patologia , Adulto Jovem
13.
Av. odontoestomatol ; 32(4): 187-193, jul.-ago. 2016. ilus
Artigo em Espanhol | IBECS | ID: ibc-156976

RESUMO

La proliferación desordenada de histiocitos muy similares a células de Langerhans da lugar a un tipo de patología que se conoce como histiocitosis de células de Langerhans. La histiocitosis de células de Langerhans es una enfermedad rara, poco frecuente, de etiología no muy clara y que se caracteriza por manifestaciones de variable presentación: desde una afectación de varios órganos o sistemas y con una mortalidad muy elevada, hasta una lesión única, bien sea con compromiso óseo o con patología pulmonar, de favorable evolución, incluso hasta la regresión espontánea. Es frecuente que exista sólo patología oral o que ésta acompañe al resto de la sintomatología general. A nivel bucal, puede presentar lesiones óseas líticas en un único o en varios puntos; se pueden ver, así mismo, fracturas patológicas de la mandíbula, dolor, úlceras bucales, compromiso periodontal con bolsas periodontales marcadas, acusada movilidad de piezas dentales con pérdida prematura de dientes, erupción precoz de dientes, etc (AU)


Langerhans cell histiocytosis (LCH) is a rare disorder of unknown etiology, characterized by disorganized proliferation of histiocytes similar to Langerhans cells. Variable clinical manifestations are observed in this entity: from acute multisistemic disease, associated with high mortality, to bone or lung lesions of favorable prognosis. Oral involvement may be present with or without other clinical signs. Osteolytic bone lesions, isolated or multiple areas of the maxilla, pathological mandibular fractures, pain, eritematous ulcerations, periodontal disease that may lead to periodontal deep pockets and alveolar bone loss, dental mobility, premature tooth eruption and premature dental loss may exist as oral manifestations of the disease (AU)


Assuntos
Humanos , Masculino , Lactente , Histiocitose de Células de Langerhans/epidemiologia , Erupção Dentária , Doenças da Boca/epidemiologia , Mobilidade Dentária/epidemiologia , Antígenos CD34/análise
14.
J Clin Oncol ; 34(25): 3023-30, 2016 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-27382093

RESUMO

PURPOSE: Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a broad spectrum of clinical manifestations and outcomes in children. The somatic BRAF(V600E) mutation occurs frequently, but clinical significance remains to be determined. PATIENTS AND METHODS: BRAF(V600E) mutation was investigated in a French LCH cohort. We analyzed associations between mutation status and clinical presentation, extent of disease, reactivation rate, response to therapy, and long-term permanent sequelae. RESULTS: Among 315 patients with successfully determined BRAF status, 173 (54.6%) carried a BRAF(V600E) mutation. Patients with BRAF(V600E) manifested more severe disease than did those with wild-type BRAF. Patients with BRAF(V600E) comprised 87.8% of patients (43 of 49) with multisystem LCH with risk organ involvement (liver, spleen, hematology), 68.6% of patients (35 of 51) with multisystem LCH without risk organ involvement, 43.9% of patients (86 of 196) with single-system LCH, and 42.1% of patients (8 of 19) with lung-involved LCH (P < .001). BRAF(V600E) mutation was also associated with organ involvement that could lead to permanent, irreversible damage, such as neurologic (75%) and pituitary (72.9%) injuries. Compared with patients with wild-type BRAF, patients with BRAF(V600E) more commonly displayed resistance to combined vinblastine and corticosteroid therapy (21.9% v 3.3%; P = .001), showed a higher reactivation rate (5-year reactivation rate, 42.8% v 28.1%; P = .006), and had more permanent, long-term consequences from disease or treatment (27.9% v 12.6%; P = .001). CONCLUSION: In children with LCH, BRAF(V600E) mutation was associated with high-risk features, permanent injury, and poor short-term response to chemotherapy. Further population-based studies should be undertaken to confirm our observations and to assess the impact of BRAF inhibitors for this subgroup of patients who may benefit from targeted therapy.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Histiocitose de Células de Langerhans/tratamento farmacológico , Histiocitose de Células de Langerhans/genética , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Adolescente , Corticosteroides/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/farmacologia , Criança , Pré-Escolar , Estudos de Coortes , Resistencia a Medicamentos Antineoplásicos , Feminino , França/epidemiologia , Histiocitose de Células de Langerhans/enzimologia , Histiocitose de Células de Langerhans/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Terapia de Alvo Molecular , Proteínas Proto-Oncogênicas B-raf/antagonistas & inibidores , Sistema de Registros , Vimblastina/administração & dosagem
15.
Br J Haematol ; 174(6): 887-98, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27273725

RESUMO

The French national cohort of children with Langerhans cell histiocytosis (LCH) has included 1478 patients since it was established in 1983. LCH therapeutic strategies substantially changed in 1998, so we have divided the cohort into two 15-year periods. Starting in 1998, therapy duration increased from 6 to 12 months, repeated induction therapy was performed in cases showing a poor response to the first induction with vinblastine and steroids, and refractory disease in a risk organ (RO+) was treated with cladribine and cytarabine. A total of 483 (33%) patients were enrolled before 1998, and 995 (67%) after 1998. Five-year survival was 96·6% (95% confidence interval: 95·4-97·5%) overall, improving from 92% pre-1998 to 99% post-1998 (P < 0·001 adjusted to disease extent). This change was supported by an increase in 5-year survival from 60% to 92% in the RO+ group. Survival was particularly associated with cladribine and cytarabine among refractory RO+ patients. Disease reactivation was slightly less frequent after 1998, due to better enrolment of single-system patients, extended therapy duration, and more efficient second-line therapy. The crude rates of endocrine and neurological sequelae (the most frequent sequelae) appeared to improve over time, but this difference was not observed when the analysis was stratified by disease extent.


Assuntos
Histiocitose de Células de Langerhans/epidemiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Feminino , Seguimentos , França/epidemiologia , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/mortalidade , Histiocitose de Células de Langerhans/terapia , Humanos , Lactente , Recém-Nascido , Masculino , Vigilância da População , Padrão de Cuidado , Análise de Sobrevida , Resultado do Tratamento
16.
Respiration ; 91(1): 26-33, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26656753

RESUMO

BACKGROUND: While respiratory bronchiolitis (RB) is a frequent histopathological finding in smoker's lungs, RB-associated interstitial lung disease (RB-ILD) remains a rare disease. OBJECTIVES: We analyzed how the histological finding of RB was associated with clinical information in a series of 684 consecutive surgical lung biopsies. METHODS: Retrospective analysis with delineation of clinical manifestations, smoking habits, pulmonary function test, and blood gas analysis in patients with RB in surgical lung biopsy. In 240 of these biopsies, RB was diagnosed, and in 146 of these cases a full clinical dataset was available. RESULTS: The final diagnosis of these 146 patients was consistent with RB-ILD (n = 18), pulmonary Langerhans cell histiocytosis (n = 7), various ILD (n = 9), spontaneous pneumothorax (n = 43), traumatic pneumothorax (n = 5), lung cancer (n = 41), various benign lung tumors (n = 8), and chronic pulmonary effusion (n = 15). Smoking history was positive in 93% of patients, 72% revealed centrilobular emphysema in their biopsy, and 58% described dyspnea as the main symptom. Amongst these diagnoses there were significant differences in age and smoking habits, but only small distinctions in pulmonary function test and blood gas analysis. Out of the patients with RB-ILD, 17% developed lung cancer in the later course. CONCLUSION: RB is strongly related to smoking, emphysema, and dyspnea and frequently associated with lung cancer. RB-ILD is a rare disease that may represent a considerable risk for lung cancer. Pulmonary function testing and blood gas analysis do not differ between RB-associated diseases. The finding of RB should prompt further diagnostic workup, and in case of RB-ILD, entail regular screening for lung cancer.


Assuntos
Adenocarcinoma/epidemiologia , Bronquiolite/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Histiocitose de Células de Langerhans/epidemiologia , Doenças Pulmonares Intersticiais/epidemiologia , Neoplasias Pulmonares/epidemiologia , Pulmão/patologia , Sistema de Registros , Adenocarcinoma/patologia , Adenocarcinoma/fisiopatologia , Adulto , Idoso , Áustria/epidemiologia , Gasometria , Bronquiolite/patologia , Bronquiolite/fisiopatologia , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/fisiopatologia , Dispneia/epidemiologia , Dispneia/fisiopatologia , Feminino , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/fisiopatologia , Humanos , Achados Incidentais , Pulmão/fisiopatologia , Doenças Pulmonares Intersticiais/patologia , Doenças Pulmonares Intersticiais/fisiopatologia , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/fisiopatologia , Macrófagos Alveolares/patologia , Masculino , Pessoa de Meia-Idade , Pneumotórax/epidemiologia , Pneumotórax/patologia , Pneumotórax/fisiopatologia , Enfisema Pulmonar/epidemiologia , Enfisema Pulmonar/patologia , Enfisema Pulmonar/fisiopatologia , Testes de Função Respiratória , Estudos Retrospectivos , Fumar/epidemiologia , Adulto Jovem
17.
Eur Respir Rev ; 24(138): 552-64, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26621970

RESUMO

Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt-Hogg-Dubé); other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management.


Assuntos
Amiloidose , Síndrome de Birt-Hogg-Dubé , Histiocitose de Células de Langerhans , Neoplasias Pulmonares , Linfangioleiomiomatose , Pneumonia por Pneumocystis , Adulto , Amiloidose/diagnóstico , Amiloidose/epidemiologia , Amiloidose/terapia , Biópsia , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/epidemiologia , Síndrome de Birt-Hogg-Dubé/terapia , Diagnóstico Diferencial , Progressão da Doença , Feminino , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/terapia , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiologia , Neoplasias Pulmonares/terapia , Linfangioleiomiomatose/diagnóstico , Linfangioleiomiomatose/epidemiologia , Linfangioleiomiomatose/terapia , Masculino , Pneumonia por Pneumocystis/diagnóstico , Pneumonia por Pneumocystis/epidemiologia , Pneumonia por Pneumocystis/terapia , Valor Preditivo dos Testes , Prognóstico , Fatores de Risco , Tomografia Computadorizada por Raios X
18.
BMC Cancer ; 15: 879, 2015 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-26552668

RESUMO

BACKGROUND: Adult Langerhans cell histiocytosis (LCH) is an orphan disease. Chemotherapy is usually reserved to patients presenting with single system multifocal (SS-m) or multisystem (MS) disease but due to the lack of randomized studies no standard first line therapy has been defined yet. Pediatric regimens based on the vinblastine/prednisone backbone are not well tolerated in adults and probably less effective. We previously demonstrated high efficacy of the dose dense polichemotherapy regimen MACOP-B in 7 adult patients with SS-m or MS-LCH, in terms of high response rate and durable responses. Here we report an update of these data with the purpose of evaluating the long term efficacy of MACOP-B in adult LCH. METHODS: Clinical data of all adult LCH patients (n = 17) diagnosed and treated at our Institution during the past 20-year period were retrospectively reviewed. RESULTS: A total of 11 patients (6 with SS-m and 5 with MS-LCH) were treated with MACOP-B from 1995 to 2014. The overall response rate was confirmed to be 100 %, with a complete response of 73 % and a partial response rate of 27 %. Overall progression free survival was 64 %, and disease free survival after achievement of initial CR was 87 %. Overall survival rate was 82 % after 6.7 years of median follow-up. CONCLUSIONS: These data confirm high activity of MACOP-B in adult LCH, indicating that a substantial fraction of patients achieve long lasting responses and can be cured with this therapeutic approach.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Histiocitose de Células de Langerhans/tratamento farmacológico , Histiocitose de Células de Langerhans/epidemiologia , Adolescente , Adulto , Bleomicina/administração & dosagem , Ciclofosfamida/administração & dosagem , Intervalo Livre de Doença , Doxorrubicina/administração & dosagem , Feminino , Seguimentos , Histiocitose de Células de Langerhans/patologia , Humanos , Masculino , Metotrexato/administração & dosagem , Pessoa de Meia-Idade , Prednisolona/administração & dosagem , Indução de Remissão , Vincristina/administração & dosagem
19.
Hematol Oncol Clin North Am ; 29(5): 853-73, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26461147

RESUMO

Langerhans cell histiocytosis (LCH) is a disease caused by clonal proliferation of CD1a+/CD207+ cells that is characterized by a spectrum of varying degrees of organ involvement and dysfunction. Treatment of LCH is risk adapted; patients with single lesions may respond well to local treatment, whereas patients with multi-system disease and risk-organ involvement require more intensive therapy. Although survival for patients without organ dysfunction is excellent, mortality rates for patients with organ dysfunction may reach 30% to 40%. For patients with low-risk disease, although cure is almost universal, disease reactivation rates are in excess of 30%.


Assuntos
Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/terapia , Terapia Combinada , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/etiologia , Humanos , Resultado do Tratamento
20.
Rev Med Interne ; 36(10): 658-67, 2015 Oct.
Artigo em Francês | MEDLINE | ID: mdl-26150351

RESUMO

Langerhans cell histiocytosis (LCH) is a rare disease characterized by the infiltration of one or more organs by Langerhans cell-like dendritic cells, most often organized in granulomas. The disease has been initially described in children. The clinical picture of LCH is highly variable. Bone, skin, pituitary gland, lung, central nervous system, lymphoid organs are the main organs involved whereas liver and intestinal tract localizations are less frequently encountered. LCH course ranges from a fulminant multisystem disease to spontaneous resolution. Several randomized controlled trials have enable pediatricians to refine the management of children with LCH. Adult LCH has some specific features and poses distinct therapeutic challenges, knowing that data on these patients are limited. Herein, we will provide an overview of current knowledge regarding adult LCH and its management. We will also discuss recent advances in the understanding of the disease, (i.e. the role of BRAF oncogene) that opens the way toward targeted therapies.


Assuntos
Histiocitose de Células de Langerhans , Adulto , Idade de Início , Diagnóstico Diferencial , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/epidemiologia , Histiocitose de Células de Langerhans/genética , Histiocitose de Células de Langerhans/terapia , Humanos , Neoplasias/epidemiologia , Neoplasias/etiologia
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