scholarly journals Skin-limited Langerhans cell histiocytosis in an adult: a case report

2021 ◽  
Author(s):  
Neringa Guobytė ◽  
Emilija Šerpytienė ◽  
Monika Macejevska ◽  
Milda Krivickaitė ◽  
Jūratė Grigaitienė
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Skin Lesions ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Multisystem Disease ◽  
Small Nodule ◽  
Systemic Spread ◽  
Life Threatening ◽  
History Of ◽  
Skin Surgery

Langerhans cell histiocytosis (LCH) is an idiopathic group of disorders characterized histologically by proliferation and infiltration of tissue by Langerhans cell-type histiocytes. This disease can affect various organs. Patients with single system lesion should be followed carefully. Detection of somatic BRAF-V600E mutation in circulating blood cells or in lesional biopsies has been associated with high-risk clinical characteristics. A 38-year old male presented to our Dermatology Centre with a 3 months history of small nodule on his right leg skin. Surgery to remove the lesion was performed. The diagnosis of skin-limited Langerhans cell histiocytosis was established. Due to possible systemic spread the patient was referred to a haematologist for further evaluation. Full body CT scan did not show any infiltrates in other organs. Bone marrow aspirate and biopsy was performed, no Langerhans cells were detected. Sometimes skin lesions may represent the most clinically evident manifestation of potentially life-threatening multisystem disease.

scholarly journals Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Solenne Le Louet ◽  
Mohamed-Aziz Barkaoui ◽  
Jean Miron ◽  
Claire Galambrun ◽  
Nathalie Aladjidi ◽  
...  
Keyword(s):  
Targeted Therapy ◽  
Langerhans Cell Histiocytosis ◽  
Treatment Guidelines ◽  
Langerhans Cell ◽  
Infection Prophylaxis ◽  
Lung Involvement ◽  
Multisystem Disease ◽  
Abnormal Chest ◽  
Life Threatening ◽  
Severe Lung

Abstract Background Lung involvement in childhood Langerhans cell histiocytosis (LCH) is infrequent and rarely life threatening, but occasionally, severe presentations are observed. Methods Among 1482 children (< 15 years) registered in the French LCH registry (1994–2018), 111 (7.4%) had lung involvement. This retrospective study included data for 17 (1.1%) patients that required one or more intensive care unit (ICU) admissions for respiratory failure. Results The median age was 1.3 years at the first ICU hospitalization. Of the 17 patients, 14 presented with lung involvement at the LCH diagnosis, and 7 patients (41%) had concomitant involvement of risk-organ (hematologic, spleen, or liver). Thirty-five ICU hospitalizations were analysed. Among these, 22 (63%) were secondary to a pneumothorax, 5 (14%) were associated with important cystic lesions without pneumothorax, and 8 (23%) included a diffuse micronodular lung infiltration in the context of multisystem disease. First-line vinblastine–corticosteroid combination therapy was administered to 16 patients; 12 patients required a second-line therapy (cladribine: n = 7; etoposide-aracytine: n = 3; targeted therapy n = 2). A total of 6 children (35%) died (repeated pneumothorax: n = 3; diffuse micronodular lung infiltration in the context of multisystem disease: n = 2; following lung transplantation: n = 1). For survivors, the median follow-up after ICU was 11.2 years. Among these, 9 patients remain asymptomatic despite abnormal chest imaging. Conclusions Severe lung involvement is unusual in childhood LCH, but it is associated with high mortality. Treatment guidelines should be improved for this group of patients: viral infection prophylaxis and early administration of a new LCH therapy, such as targeted therapy.

Adult Langerhans cell histiocytosis: A contemporary single-institution series of 186 patients.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 7018-7018
Author(s):  
Gaurav Goyal ◽  
Marie Hu ◽  
Jason R Young ◽  
Robert Vassallo ◽  
Jay H Ryu ◽  
...  
Keyword(s):  
Smoking Cessation ◽  
Langerhans Cell Histiocytosis ◽  
Overall Response Rate ◽  
Langerhans Cell ◽  
Braf V600e ◽  
First Line ◽  
Multisystem Disease ◽  
Presenting Symptoms ◽  
Systemic Therapies

7018 Background: Langerhans cell histiocytosis (LCH) is a rare histiocytic neoplasm driven by MAPK-ERK mutations in majority of patients. Contemporary data on treatments and outcomes in adult LCH are lacking. Hence, we undertook this study to analyze a large cohort of adult LCH patients. Methods: This was a retrospective study of adult (≥18 years) LCH patients seen at our institution between 1998 and 2018. Results: We included 186 patients with adult LCH (median age 43; 19-88), and 54% were females. 70% of patients were diagnosed after 2007. Common presenting symptoms were cough/dyspnea (30%), rash (17%), pain/swelling in head (17%), and diabetes insipidus (10%). 70 (38%) patients had multisystem LCH, 62 (33%) had isolated pulmonary LCH, and 35 (19%) had unifocal LCH. Common sites of involvement included lung (59%), bone (37%), skin (21%), and nervous system (16%). 121 (65%) were smokers; 48% of these had lung disease, while 52% had multisystem disease. 18 of 31 tested (58%) patients had BRAF-V600E mutation. Most common first-line treatment was smoking cessation in 24 patients, and led to an overall response rate (ORR) of 83% in pulmonary lesions. Radiation therapy was used in 11 patients, and led to an ORR 82%. Surgical resection of lesion was done in 23 patients, with relapses in 24%. Systemic therapies were used in 78 (42%) patients (Table). Most common first-line systemic therapy was cladribine with ORR of 78%. Vemurafenib was used in 3 patients with BRAF-V600E, leading to an ORR of 67% . After a median follow-up of 23 months (0-261), 21 patients had died. Of these, 10 died of progressive LCH. Median OS was not reached, and mean OS was 196 months. Conclusions: This is the largest contemporary series of adult LCH. It shows that diverse clinical spectrum, ranging from benign course to a progressive multisystem disease. Although smoking cessation was an effective treatment for pulmonary LCH, a large subset required systemic chemotherapy. [Table: see text]

BRAF V600E Mutation: A Significant Biomarker for Prediction of Disease Relapse in Pediatric Langerhans Cell Histiocytosis

2019 ◽  
Vol 22 (5) ◽  
pp. 449-455 ◽  
Author(s):  
Erdener Ozer ◽  
Akin Sevinc ◽  
Dilek Ince ◽  
Resmiye Yuzuguldu ◽  
Nur Olgun
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Direct Sequencing ◽  
Prognostic Significance ◽  
Braf V600e Mutation ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Erk Pathway ◽  
Disease Relapse ◽  
Multisystem Disease ◽  
Mutational Status

Langerhans cell histiocytosis (LCH) is a rare disease presenting with usually a localized disease but sometimes a widespread aggressive disorder especially in children. Among the somatic mutations in RAF-MEK-ERK pathway, especially BRAF mutation has been detected so far in LCH. We aimed in this study to investigate the prognostic significance of the mutations of target genes playing a role in the RAF-MEK-ERK pathway in pediatric LCH. Mutation analyses were performed on tumor DNA extracted from formalin-fixed paraffin-embedded biopsy specimens of 38 pediatric LCH cases using a direct sequencing technique for BRAF, ARAF, MAP2K1, and MAP3K1 genes. The mutational status was correlated statistically with survival, clinical progression (disease relapse), and the established clinical prognostic parameters of LCH such as age, gender, localization, multisystem disease, central nervous system risk lesions, and risk organ or special-site involvement. BRAF V600E mutation was detected in 14 cases (36.8%), whereas ARAF mutation was found in only 1 case. No mutations were identified for MAP2K1 and MAP3K1 genes. The association of BRAF V600E mutation was significant in children with multisystem disease, younger age (<2 years), skin, and special organ involvement. BRAF V600E mutation was an independent predictive parameter for disease relapse. We therefore conclude that BRAF V600E mutation may be a significant marker for predicting disease progression in LCH and a candidate for targeted therapy for children with disease relapse and multisystem disease.

BRAF V600E mutation in childhood Langerhans cell histiocytosis correlates with multisystem disease and poor survival

2020 ◽  
Vol 82 ◽  
pp. 102356 ◽  
Author(s):  
Prateek Bhatia ◽  
Minu Singh ◽  
Madhulika Sharma ◽  
Ajay Sharma ◽  
Nandita Kakkar ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Braf V600e Mutation ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Poor Survival ◽  
Multisystem Disease

scholarly journals Case Report: Early Association of Vemurafenib to Standard Chemotherapy in Multisystem Langerhans Cell Histiocytosis in a Newborn: Taking a Chance for a Better Outcome?

2021 ◽  
Vol 11 ◽  
Author(s):  
Stefania Gaspari ◽  
Valentina Di Ruscio ◽  
Francesca Stocchi ◽  
Roberto Carta ◽  
Marco Becilli ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Laboratory Data ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Line Treatment ◽  
First Line ◽  
Standard Chemotherapy ◽  
Multisystem Disease ◽  
Response To Chemotherapy ◽  
First Line Treatment

Langerhans cell histiocytosis (LCH) is due to aberrant monoclonal proliferation and accumulation of dendritic cells, ranging from a self-limiting local condition to a rapidly progressive multisystem disease with poor prognosis. Pathogenic cells originate from a myeloid-derived precursor characterized by an activation of the MAPK/ERK signaling pathway in about 70% of cases. In particular, BRAF V600E mutation is usually associated with a more severe clinical course and poor response to chemotherapy. We report on a newborn with multisystem LCH in life-threatening medical conditions. At diagnosis, the patient was successfully treated with the early association of BRAF inhibitor Vemurafenib to standard chemotherapy representing a new approach in first-line treatment. A rapid clinical improvement with a prompt fever regression from day 2 and complete resolution of skin lesions by week 2 were observed; laboratory data normalized as well. Vemurafenib was discontinued after 12 months of treatment. No signs of relapse occurred after 12 months of discontinuation. This case indicates that early combination of target therapy with standard treatment may induce rapid response and prolonged disease remission without significant toxicities in infants. This approach represents a valid and safe option as first-line treatment in multisystem disease, especially in high-risk patients.

Langerhans cell histiocytosis: an unusual cause of vesicular rashes in a neonate

2021 ◽  
Vol 14 (12) ◽  
pp. e247213
Author(s):  
Liang Yi Justin Wee ◽  
Alvin Ngeow ◽  
Mark Koh
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Third Trimester ◽  
Multisystem Disease ◽  
Maternal History ◽  
Systemic Involvement ◽  
The Third ◽  
History Of ◽  
Uncommon Case ◽  
Simplex Virus

The skin manifestations of Langerhans cell histiocytosis (LCH) in the neonate have a heterogenous presentation and can mimic other causes of neonatal rashes. We report an uncommon case of LCH in a term female neonate presenting with non-specific papules and vesicles from the first day of life. There was a maternal history of genital herpes simplex virus (HSV) infection in the third trimester. Blood, cerebrospinal fluid, surface swabs and vesicular fluid were negative for HSV by PCR, and a skin biopsy confirmed the diagnosis of LCH. Further investigations for systemic involvement returned negative. Our case emphasises the variable and non-specific presentation of neonatal cutaneous LCH, which can progress to or be part of multisystem disease.

Langerhans Cell Histiocytosis Involving the Thymus

2003 ◽  
Vol 127 (7) ◽  
pp. e294-e297 ◽  
Author(s):  
Benjamin H. Lee ◽  
Suzanne George ◽  
Jeffery L. Kutok
Keyword(s):  
Myasthenia Gravis ◽  
Langerhans Cell Histiocytosis ◽  
Mediastinal Mass ◽  
Langerhans Cell ◽  
Anterior Mediastinal Mass ◽  
Multisystem Disease ◽  
Computed Tomographic ◽  
Aged Woman ◽  
Middle Aged Woman ◽  
History Of

Abstract Langerhans cell histiocytosis (LCH) is a neoplastic proliferation of Langerhans cells that occurs in a range of nodal and extranodal sites. Scattered reports of LCH within the thymus exist, typically among children within the setting of multifocal, multisystem disease. Rare cases of isolated LCH involving the thymus have occurred in adult patients with myasthenia gravis. We report a case of unifocal LCH involving the thymus in a middle-aged woman with a history of a resected leiomyosarcoma but no evidence of myasthenia gravis. Computed tomographic scans revealed an anterior mediastinal mass, which was excised and measured 9.0 cm. Histologic and immunophenotypic findings (CD1a, S100, and Fascin positive and CD68 negative) were consistent with LCH. To our knowledge, this is the first example of LCH occurring in a patient with a history of soft tissue sarcoma and one of the rare reported examples of LCH presenting as a large isolated lesion in the thymus of a nonmyasthenic adult.

scholarly journals Frequency detection of BRAF V600E mutation in a cohort of pediatric langerhans cell histiocytosis patients by next-generation sequencing

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shunqiao Feng ◽  
Lin Han ◽  
Mei Yue ◽  
Dixiao Zhong ◽  
Jing Cao ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Langerhans Cell Histiocytosis ◽  
Mutation Screening ◽  
Langerhans Cell ◽  
Braf V600e ◽  
P Value ◽  
Type I ◽  
Next Generation ◽  
Mutation Status ◽  
Generation Sequencing

Abstract Background Langerhans cell histiocytosis (LCH) is a rare neoplastic disease that occurs in both children and adults, and BRAF V600E is detected in up to 64% of the patients. Several studies have discussed the associations between BRAF V600E mutation and clinicopathological manifestations, but no clear conclusions have been drawn regarding the clinical significance of the mutation in pediatric patients. Results We retrieved the clinical information for 148 pediatric LCH patients and investigated the BRAF V600E mutation using next-generation sequencing alone or with droplet digital PCR. The overall positive rate of BRAF V600E was 60/148 (41%). The type of sample (peripheral blood and formalin-fixed paraffin-embedded tissue) used for testing was significantly associated with the BRAF V600E mutation status (p-value = 0.000 and 0.000). The risk of recurrence declined in patients who received targeted therapy (p-value = 0.006; hazard ratio 0.164, 95%CI: 0.046 to 0.583). However, no correlation was found between the BRAF V600E status and gender, age, stage, specific organ affected, TP53 mutation status, masses close to the lesion or recurrence. Conclusions This is the largest pediatric LCH study conducted with a Chinese population to date. BRAF V600E in LCH may occur less in East Asian populations than in other ethnic groups, regardless of age. Biopsy tissue is a more sensitive sample for BRAF mutation screening because not all of circulating DNA is tumoral. Approaches with low limit of detection or high sensitivity are recommended for mutation screening to avoid type I and II errors.

scholarly journals Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System

2021 ◽  
pp. 1-9
Author(s):  
Elisa Vaiani ◽  
Guido Felizzia ◽  
Fabiana Lubieniecki ◽  
Jorge Braier ◽  
Alicia Belgorosky
Keyword(s):  
Anterior Pituitary ◽  
Langerhans Cell Histiocytosis ◽  
Endocrine System ◽  
Langerhans Cell ◽  
Hormone Deficiency ◽  
Bone Lesions ◽  
Pituitary Hormone ◽  
Multisystem Disease ◽  
Anterior Pituitary Hormone

Langerhans cell histiocytosis (LCH) is a disorder of the mononuclear phagocyte system that can affect almost any organ and system. The most common central nervous system (CNS) manifestation in LCH is the infiltration of the hypothalamic-pituitary region leading to destruction and neurodegeneration of CNS tissue. The latter causes the most frequent endocrinological manifestation, that is, central diabetes insipidus (CDI), and less often anterior pituitary hormone deficiency (APD). The reported incidence of CDI is estimated between 11.5 and 24% and is considered a risk factor for neurodegenerative disease and APD. Three risk factors for development of CDI are recognized in the majority of the studies: (1) multisystem disease, (2) the occurrence of reactivations or active disease for a prolonged period, and (3) the presence of craniofacial bone lesions. Since CDI may occur as the first manifestation of LCH, differential diagnosis of malignant diseases like germ cell tumours must be made. APD is almost always associated with CDI and can appear several years after the diagnosis of CDI. Growth hormone is the most commonly affected anterior pituitary hormone. Despite significant advances in the knowledge of LCH in recent years, little progress has been made in preventing long-term sequelae such as those affecting the hypothalamic-pituitary system.

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