BRAF Mutation in Langerhans Cell HistiocytosisBRAF Mutation in Langerhans Cell Histiocytosis
Children with Langerhans cell histiocytosis (LCH) and the BRAFV600E mutation may be at greater risk for worse outcomes, including permanent injury and poor short-term response to chemotherapy, according to new research from France. Reuters Health Information
We report 11 children with vertebral lesion of Langerhans cell histiocytosis (LCH) diagnosed and treated between 2000 and 2015. Vertebral lesions were usually present at LCH diagnosis. No child developed neurologic symptoms. Among 29 vertebral lesions, only 2 were unstable. Chemotherapy was used in all children but 3. A LCH recurrence was observed in 6 patients, involving vertebrae in 4 cases. All children were disease-free at their last follow-up. Sequelae were more often radiologic than clinical. Since potential recurrences and incomplete bone regeneration exist, discussion about optimal treatment and long-term follow-up...
Langerhans Cell Histiocytosis (LCH) is a neoplastic disorder of hematopoietic origin characterized by inflammatory lesions containing clonal histiocytes (LCH-cells) intermixed with various immune cells, including T cells. In 50–60% of LCH-patients, the somatic BRAFV600E driver mutation, which is common in many cancers, is detected in these LCH-cells in an otherwise quiet genomic landscape. Non-synonymous mutations like BRAFV600E can be a source of neoantigens capable of eliciting effective antitumor CD8+ T cell responses. This requires neopeptides to be stably presented by Human Leukocyte Antigen (HLA) class I molecu...
PMID: 31919077 [PubMed - as supplied by publisher]
In this study, a fibula-free flap was used for subsequent reconstruction. The purpose of the study is 2-fold: to highlight the variability of LCH in both patient symptomatology and demographics, as well as the role of plastic reconstructive surgery in definitive LCH management, particularly in the setting of single system unifocal disease.
We present a case of a 68-year-old woman diagnosed as having multisystem Langerhans cell histiocytosis (LCH) 8 years ago. She was treated with chemotherapy last year because systemic affectation; the patient has complained about intense pain and swelling of gums beginning 2 years ago. Intraoral examination reveals poor oral hygiene, gingival enlargement, and multiple necrotic ulcerations covered by pseudomembrane involving the upper buccal gingiva, the intercanine region, and the lower buccal and lingual gingiva of premolars, canines, and incisives.
ConclusionLCH mostly occurs in children. In head and neck it affects principally the mastoid part of the temporal bone. Treatments include surgery, chemotherapy, and irradiation. Most patients enjoy good prognoses. LCH accompanied by TCS is rare and increases the difficulty of diagnosis; molecular data aid in TCS identification.
Conclusion: The expression of the disease varies from asymptomatic to chronic respiratory insufficiency, with no correlation with radiological score.
Conclusions: PLCH is a rare, cystic lung disease, affects mainly young adult smokers, without gender predominance; early diagnosis, smoking cessation, and adequate treatment are critical in its management.
Conclusion: The use of a combination of SCS+cytostatic drug is more effective than monotherapy with SCS. Chemotherapy can improve the prognosis of the course of the disease in patients with rapid progression.
Conclusion: The most prominent feature of these two patients was severe respiratory involvement at the time of diagnosis. It should be kept in mind that lung involvement may be the first finding in patients with LCH and can appear in very young ages. BRAF mutation should be investigated in severe cases with LCH.