Langerhans Cell Histiocytosis Involving the Gastrointestinal Tract

2014 ◽  
Vol 138 (10) ◽  
pp. 1350-1352 ◽  
Author(s):  
Amir Behdad ◽  
Scott R. Owens
Keyword(s):  
Gastrointestinal Tract ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Presentation ◽  
Pediatric Population ◽  
Systemic Disease ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Molecular Testing ◽  
The Past ◽  
Variable Clinical Presentation

Langerhans cell histiocytosis is a rare disease with a variable clinical presentation, and its prognosis and treatment depend on the extent and severity of disease. Although the pathogenesis of Langerhans cell histiocytosis has been debated in the past, recent evidence suggests that it is a neoplastic proliferation potentially derived from a myeloid-lineage precursor. Involvement of the gastrointestinal tract in Langerhans cell histiocytosis is exceedingly rare and is most often encountered in the pediatric population, in the setting of systemic disease. This is illustrated using a case of Langerhans cell histiocytosis involving the esophagus in a 59-year-old woman who presented with dysphagia, in which molecular testing documented a BRAF V600E mutation. We review the features and implications of this diagnosis.

scholarly journals Advanced ulcerative tumefactive lesions of the mucocutaneous surface in previously unrecognized Langerhans Cell Histiocytosis

2021 ◽  
Vol 12 (4) ◽  
pp. 419-421
Author(s):  
Fatima Azzahra Elgaitibi ◽  
Soumaya Hamich ◽  
Noureddine Mahiou
Keyword(s):  
Langerhans Cells ◽  
Langerhans Cell Histiocytosis ◽  
Rare Case ◽  
Clinical Presentation ◽  
Histopathological Examination ◽  
Systemic Disease ◽  
Skin Lesions ◽  
Clinical Suspicion ◽  
Langerhans Cell ◽  
Multiple Ulcers

Langerhans cell histiocytosis (LCH) is an uncommon systemic disease characterized by the infiltration of one organ or more by Langerhans cells. Its clinical presentation is heterogeneous and depends on the affected organs. We report the rare case of a 43-year-old female presenting herself with central diabetes insipidus and receiving nasal desmopressin spray. Later, the patient developed multiple papules and pustules progressing to multiple ulcers affecting the retroauricular and axillary folds, as well as the oral and genital mucosas. The skin lesions had been evolving for several months. A histopathological examination of a skin biopsy confirmed the clinical suspicion of LCH.

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 Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Michael S. Gordon ◽  
Murray B. Gordon
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Hypogonadotropic Hypogonadism ◽  
Langerhans Cell ◽  
Pituitary Stalk ◽  
Bright Spot ◽  
Molecular Testing ◽  
Papillary Thyroid

Etiologies of a thickened stalk include inflammatory, neoplastic, and idiopathic origins, and the underlying diagnosis may remain occult. We report a patient with a thickened pituitary stalk (TPS) and papillary thyroid carcinoma (PTC) whose diagnosis remained obscure until a skin lesion appeared. The patient presented with PTC, status postthyroidectomy, and I131therapy. PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. Overnight dehydration study confirmed diabetes insipidus (DI). MRI revealed TPS with loss of the posterior pituitary bright spot. Evaluation showed hypogonadotropic hypogonadism and low IGF-1. Chest X-ray and ACE levels were normal. Radiographs to evaluate for extrapituitary sites of Langerhans Cell Histiocytosis (LCH) were unremarkable. Germinoma studies were negative: normal serum and CSF beta-hCG, alpha-fetoprotein, and CEA. Three years later, the patient developed vulvar labial lesions followed by inguinal region skin lesions, biopsy of which revealed LCH. Reanalysis of thyroid pathology was consistent with concurrent LCH, PTC, and Hashimoto’s thyroiditis within the thyroid. This case illustrates that one must be vigilant for extrapituitary manifestations of systemic diseases to diagnose the etiology of TPS. An activating mutation of the protooncogene BRAF is a potential unifying etiology of both PTC and LCH.

scholarly journals High prevalence of somatic MAP2K1 mutations in BRAF V600E–negative Langerhans cell histiocytosis

Blood ◽  
2014 ◽  
Vol 124 (10) ◽  
pp. 1655-1658 ◽  
Author(s):  
Noah A. Brown ◽  
Larissa V. Furtado ◽  
Bryan L. Betz ◽  
Mark J. Kiel ◽  
Helmut C. Weigelin ◽  
...  
Keyword(s):  
Targeted Therapy ◽  
Genome Sequencing ◽  
High Frequency ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Braf Mutations ◽  
Key Points ◽  
High Prevalence

Key Points Targeted genome sequencing reveals high-frequency somatic MAP2K1 mutations in Langerhans cell histiocytosis. MAP2K1 mutations are mutually exclusive with BRAF mutations and may have implications for the use of BRAF and MEK targeted therapy.

scholarly journals Unifocal Granuloma of Femur due to Langerhans' Cell Histiocytosis: A Case Report and Review of the Literature

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Harpreet Singh ◽  
Satnam Kaur ◽  
P. Yuvarajan ◽  
Nishant Jain ◽  
Lalit Maini
Keyword(s):  
Case Report ◽  
Clinical Data ◽  
Case History ◽  
Langerhans Cell Histiocytosis ◽  
Eosinophilic Granuloma ◽  
Pediatric Population ◽  
Langerhans Cell ◽  
Long Bones ◽  
Review Of The Literature ◽  
Osteolytic Lesions

The radiological diagnosis of osteolytic lesions of the long bones in pediatric population constitutes a challenge when the case history and clinical data are uncharacteristic. We believe that the description of few clinically and histologically proven cases to verify the existence of radiological signs useful for diagnosis may be of interest. Here, we describe a case of Langerhans' cell histiocytosis (LCH) presenting as unifocal eosinophilic granuloma of femur along with a brief review of the literature.

scholarly journals BRAF V600E-Positive Congenital Multisite Langerhans Cell Histiocytosis

Cureus ◽  
2020 ◽  
Author(s):  
Maria Camila Prada Avella ◽  
Amaranto Suárez ◽  
Sharon Contreras ◽  
Alejandra Calderon
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Braf V600e

scholarly journals Vemurafenib provides a rapid and robust clinical response in paediatric Langerhans cell histiocytosis with the BRAF V600E mutation but does not eliminate low-level minimal residual disease based on ddPCR using cell-free circulating DNA

2020 ◽  
Author(s):  
Dmitry Evseev ◽  
Irina Kalinina ◽  
Elena Raykina ◽  
Daria Osipova ◽  
Zalina Abashidze ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Residual Disease ◽  
Braf V600e Mutation ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Circulating Dna ◽  
Neutropenic Sepsis ◽  
Day Range ◽  
Droplet Pcr ◽  
Free Circulating Dna

Background Langerhans cell histiocytosis (LCH) involves abnormal proliferation of Langerhans cells (LC), which is typically driven by the BRAF V600E mutation. High-risk LCH has a poor prognosis. Procedure Fifteen children (5 girls, 10 boys) with BRAF V600E+ LCH received vemurafenib (initial dose median 40 mg/kg/day, range: 11–51.6 mg/kg/day) between March 2016 and February 2020. All patients had previous received LCH-directed chemotherapy. The median age at LCH onset was 2 months (range: 1–28 months) and the median age at the start of vemurafenib treatment was 22 months (range: 13–62 months). The median disease activity score (DAS) at the start of vemurafenib treatment was 12 points (range: 2–22 points). Results The median duration of vemurafenib therapy was 29 months (range: 2.4–45 months). All patients responded to treatment, with median DAS values of 4 points (range: 0–14 points) at week 4 and 1 point (range: 0–3 points) at week 26. Toxicities included skin/hair changes (93%) and non-significant QT prolongation (73%). Two patients died, including 1 patient who experienced hepatic failure after NSAID overdose and 1 patient who developed neutropenic sepsis. Electively stopping vemurafenib treatment resulted in relapse in 5 patients, and complete cessation was only possible for 1 patient. Digital droplet PCR for BRAF V600E using cell-free circulating DNA revealed that 7 patients had mutation statuses that fluctuated over time. Conclusion Our study confirms that vemurafenib treatment is safe and effective for young children with BRAF V600E+ multisystem LCH. However, treatment using vemurafenib does not completely eliminate the disease.

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