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Dynamic endoscopic progression of gastrointestinal tract involvement in Langerhans cell histiocytosis: A pediatric
Jianwei Pan1, Bo Liu2, Huihua Zhang2
1Department of Pediatrics, The Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine Zhejiang University Yiwu China.
Insights
Gastrointestinal Langerhans cell histiocytosis (LCH) is rare. Early endoscopy and BRAF inhibitor dabrafenib offer effective diagnosis and treatment for pediatric LCH with GI involvement.
Area of Science:
- Pediatric Gastroenterology
- Oncology
- Genetics
Background:
- Gastrointestinal tract involvement in Langerhans cell histiocytosis (LCH) is exceptionally rare, with limited endoscopic data.
- LCH presents with diverse systemic symptoms, including gastrointestinal issues, often mimicking other conditions.
Purpose of the Study:
- To highlight the endoscopic findings of a rare pediatric case of LCH with significant gastrointestinal involvement.
- To emphasize the diagnostic utility of early gastrointestinal endoscopy and the efficacy of targeted therapy.
Main Methods:
- Case report of a 19-month-old girl with refractory gastrointestinal symptoms.
- Serial digestive endoscopies with biopsies, genetic analysis (BRAF-V600E mutation), and multi-agent treatment including chemotherapy and dabrafenib.
Main Results:
- Diagnosis of LCH was confirmed via biopsy during the third endoscopy, revealing colorectal and distal ileal mucosal changes.
- The patient showed rapid clinical improvement with chemotherapy and dabrafenib, with sustained remission at 1-year follow-up.
Conclusions:
- Early gastrointestinal endoscopy with biopsies is crucial for diagnosing LCH in children with unexplained GI symptoms.
- Dabrafenib is a promising therapeutic option for BRAF-V600E-mutated LCH with gastrointestinal manifestations.
Abstract:
Gastrointestinal tract involvement in Langerhans cell histiocytosis (LCH) is extremely rare, with limited documentation of endoscopic manifestations. We report a 19-month-old girl who presented with repeated diarrhea and bloody stools, accompanied by recurrent pulmonary infections, anemia, hypoproteinemia, thrombocytopenia, coagulopathy, and hepatosplenomegaly with lymphadenopathy. Initial treatment with antibacterial agents, mesalazine, thalidomide, and prednisone led to temporary improvement; however, the symptoms repeatedly relapsed. She underwent three digestive endoscopies, but until the third endoscopy, a definitive diagnosis of Langerhans cell histiocytosis was established through biopsy. While upper gastrointestinal tract findings were not significant, notable changes were observed in the colorectal region. A colonoscopy revealed progression from erythema to diffuse hyperemia and edema, with erythema, erosion, and superficial ulcers extending into the distal ileal mucosa. Genetic analysis identified a BRAF-V600E mutation. Following treatment with chemotherapy (vincristine and prednisone) and the BRAF inhibitor dabrafenib, the patient demonstrated significant clinical improvement within days. At the 1-year follow-up, the patient had normal bowel movements and a weight gain of 2.5 kg. Early gastrointestinal endoscopy with multiple biopsies in suspected children can facilitate early detection. Dabrafenib is a viable treatment option for Langerhans cell histiocytosis.
