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British Journal of Haematology Dec 2019
Topics: Histiocytosis, Langerhans-Cell; Humans; Molecular Targeted Therapy; Mutation; Neoplasms; Neurodegenerative Diseases
PubMed: 31309539
DOI: 10.1111/bjh.16099 -
Mayo Clinic Proceedings Oct 2019Histiocytic neoplasms, a rare and heterogeneous group of disorders, primarily include Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease....
The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease.
Histiocytic neoplasms, a rare and heterogeneous group of disorders, primarily include Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease. Due to their diverse clinical manifestations, the greatest challenge posed by these neoplasms is the establishment of a diagnosis, which often leads to a delay in institution of appropriate therapy. Recent insights into their genomic architecture demonstrating mitogen-activated protein kinase/extracellular signal-regulated kinase pathway mutations have now enabled potential treatment with targeted therapies in most patients. This consensus statement represents a joint document from a multidisciplinary group of physicians at Mayo Clinic who specialize in the management of adult histiocytic neoplasms. It consists of evidence- and consensus-based recommendations on when to suspect these neoplasms and what tests to order for the diagnosis and initial evaluation. In addition, it also describes the histopathologic and individual organ manifestations of these neoplasms to help the clinicians in identifying their key features. With uniform guidelines that aid in identifying these neoplasms, we hope to improve the awareness that may lead to their timely and correct diagnosis.
Topics: Algorithms; Diagnostic Techniques and Procedures; Erdheim-Chester Disease; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Humans
PubMed: 31472931
DOI: 10.1016/j.mayocp.2019.02.023 -
The New England Journal of Medicine Dec 2022
Topics: Humans; Histiocytosis, Langerhans-Cell; Tomography, X-Ray Computed
PubMed: 36573701
DOI: 10.1056/NEJMicm2203885 -
Seminars in Respiratory and Critical... Apr 2020Pulmonary Langerhans cell histiocytosis (PLCH) is a diffuse cystic lung disease that is strongly associated with exposure to cigarette smoke. Recently, activating... (Review)
Review
Pulmonary Langerhans cell histiocytosis (PLCH) is a diffuse cystic lung disease that is strongly associated with exposure to cigarette smoke. Recently, activating pathogenic mutations in the mitogen-activated protein kinase pathway have been described in the dendritic cells in patients with PLCH and have firmly established PLCH to be an inflammatory myeloid neoplasm. Disease course and prognosis in PLCH are highly variable among individual patients, ranging from spontaneous resolution to development of pulmonary hypertension and progression to terminal respiratory failure. A subset of patients with PLCH may have extrapulmonary involvement, typically involving the skeletal system in the form of lytic lesions, skin lesions, or the central nervous system most commonly manifesting in the form of diabetes insipidus. Smoking cessation is the cornerstone of treatment in patients with PLCH and can lead to disease regression or stabilization in a substantial proportion of patients. Further insight into the underlying molecular pathogenesis of PLCH has paved the way for the future development of disease-specific biomarkers and targeted treatment options directed against the central disease-driving mutations.
Topics: Clinical Trials as Topic; Disease Progression; Histiocytosis, Langerhans-Cell; Humans; Hypertension, Pulmonary; Lung Diseases; Mitogen-Activated Protein Kinases; Mutation; Prognosis; Proto-Oncogene Proteins B-raf; Respiratory Insufficiency; Smoking; Smoking Cessation
PubMed: 32279297
DOI: 10.1055/s-0039-1700996 -
Current Neurology and Neuroscience... Jun 2023Histiocytic disorders, including Erdheim-Chester disease (ECD), Langerhans cell histiocytosis (LCH), and Rosai-Dorfman disease (RDD), are rare neoplasms that may present... (Review)
Review
PURPOSE OF REVIEW
Histiocytic disorders, including Erdheim-Chester disease (ECD), Langerhans cell histiocytosis (LCH), and Rosai-Dorfman disease (RDD), are rare neoplasms that may present with a spectrum of neurologic involvement. Diagnostic delay is common due to heterogeneity in presentation and challenging pathology.
RECENT FINDINGS
Recent advances in the treatment of these diseases targeted towards mutations in the MAP kinase pathway have led to an improved prognosis in these patients with neurologic involvement. It is critical for clinicians to have a high index of suspicion to allow for early targeted treatment and optimize neurologic outcomes. A systematic approach to diagnosis is presented in this article to allow for accurate diagnosis of these rare diseases.
Topics: Humans; Delayed Diagnosis; Histiocytosis, Langerhans-Cell; Erdheim-Chester Disease; Histiocytosis, Sinus; Prognosis
PubMed: 37209319
DOI: 10.1007/s11910-023-01272-4 -
The New England Journal of Medicine Dec 2021
Topics: Exanthema; Female; Histiocytosis, Langerhans-Cell; Humans; Infant, Newborn; Remission, Spontaneous; Skin
PubMed: 34879451
DOI: 10.1056/NEJMicm2112460 -
Cancer Science Sep 2023Langerhans cell histiocytosis (LCH) is a rare disease characterized by clonal expansion of CD1a CD207 myeloid dendritic cells. The features of LCH are mainly described...
Langerhans cell histiocytosis (LCH) is a rare disease characterized by clonal expansion of CD1a CD207 myeloid dendritic cells. The features of LCH are mainly described in children and remain poorly defined in adults; therefore, we conducted a nationwide survey to collect clinical data from 148 adult patients with LCH. The median age at diagnosis was 46.5 (range: 20-87) years with male predominance (60.8%). Among the 86 patients with detailed treatment information, 40 (46.5%) had single system LCH, whereas 46 (53.5%) had multisystem LCH. Moreover, 19 patients (22.1%) had an additional malignancy. BRAF V600E in plasma cell-free DNA was associated with a low overall survival (OS) rate and the risk of the pituitary gland and central nervous system involvement. At a median follow-up of 55 months from diagnosis, six patients (7.0%) had died, and the four patients with LCH-related death did not respond to initial chemotherapy. The OS probability at 5 years post-diagnosis was 90.6% (95% confidence interval: 79.8-95.8). Multivariate analysis showed that patients aged ≥60 years at diagnosis had a relatively poor prognosis. The probability of event-free survival at 5 years was 52.1% (95% confidence interval: 36.6-65.5), with 57 patients requiring chemotherapy. In this study, we first revealed the high rate of relapse after chemotherapy and mortality of poor responders in adults as well as children. Therefore, prospective therapeutic studies of adults with LCH using targeted therapies are needed to improve outcomes in adults with LCH.
Topics: Child; Humans; Male; Adult; Young Adult; Middle Aged; Aged; Aged, 80 and over; Female; Prognosis; Proto-Oncogene Proteins B-raf; Neoplasms; Histiocytosis, Langerhans-Cell; Progression-Free Survival; Mutation
PubMed: 37364599
DOI: 10.1111/cas.15879 -
Immunology and Allergy Clinics of North... May 2023Cysts and cavities in the lung are commonly encountered on chest imaging. It is necessary to distinguish thin-walled lung cysts (≤2 mm) from cavities and characterize... (Review)
Review
Cysts and cavities in the lung are commonly encountered on chest imaging. It is necessary to distinguish thin-walled lung cysts (≤2 mm) from cavities and characterize their distribution as focal or multifocal versus diffuse. Focal cavitary lesions are often caused by inflammatory, infectious, or neoplastic processes in contrast to diffuse cystic lung diseases. An algorithmic approach to diffuse cystic lung disease can help narrow the differential diagnosis, and additional testing such as skin biopsy, serum biomarkers, and genetic testing can be confirmatory. An accurate diagnosis is essential for the management and disease surveillance of extrapulmonary complications.
Topics: Humans; Lymphangioleiomyomatosis; Histiocytosis, Langerhans-Cell; Birt-Hogg-Dube Syndrome; Tomography, X-Ray Computed; Lung Diseases; Lung; Cysts; Diagnosis, Differential
PubMed: 37055093
DOI: 10.1016/j.iac.2023.01.003 -
Frontiers in Immunology 2023Langerhans cell histiocytosis (LCH) is a rare and clinically heterogeneous hematological disease characterized by the accumulation of mononuclear phagocytes in various... (Review)
Review
Langerhans cell histiocytosis (LCH) is a rare and clinically heterogeneous hematological disease characterized by the accumulation of mononuclear phagocytes in various tissues and organs. LCH is often characterized by activating mutations of the mitogen-activated protein kinase (MAPK) pathway with being the most recurrent mutation. Although this discovery has greatly helped in understanding the disease and in developing better investigational tools, the process of malignant transformation and the cell of origin are still not fully understood. In this review, we focus on the newest updates regarding the molecular pathogenesis of LCH and novel suggested pathways with treatment potential.
Topics: Humans; Proto-Oncogene Proteins B-raf; Histiocytosis, Langerhans-Cell; Mutation; Mitogen-Activated Protein Kinases; Gain of Function Mutation
PubMed: 37965340
DOI: 10.3389/fimmu.2023.1275085 -
Biomedica : Revista Del Instituto... Sep 2020Langerhans cell histiocytosis is a rare pathology with different clinical manifestations in the neonatal period ranging from isolated bone lesions to systemic... (Review)
Review
Langerhans cell histiocytosis is a rare pathology with different clinical manifestations in the neonatal period ranging from isolated bone lesions to systemic compromise. We report a case of Langerhans cell histiocytosis including a literature review focused on the clinical manifestations, diagnosis, and treatment. A one-month-old patient was brought to medical consultation with lymphadenopathy and skin lesions, which were initially managed as an infectious pathology. The disease continued its progression without improvement with the treatment until the patient died due to respiratory failure. The lymph node and skin biopsies revealed infiltration of atypical cells with positive immunohistochemistry for S100, CD1, and CD68 confirming Langerhans cell histiocytosis. This disorder represents a great challenge and, therefore, it is important to alert and sensitize medical teams about it for timely diagnosis and management.
Topics: Biopsy; Cytomegalovirus Infections; Diagnosis, Differential; Disease Progression; Fatal Outcome; Histiocytosis, Langerhans-Cell; Humans; Infant; Lymphadenopathy; Male; Skin; Skin Diseases; Skin Diseases, Viral
PubMed: 33030824
DOI: 10.7705/biomedica.5150