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Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children
Ying Yang1, Chanjuan Wang2, Dong Wang1
1Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56, Nanlishi Road, Xicheng district, Beijing, 100045, China.
Insights
Children with MAP2K1-mutated Langerhans cell histiocytosis (LCH) show distinct clinical features, including single-system bone involvement and later onset. Lung involvement, particularly with bony thorax involvement, indicates a poor prognosis in these MAP2K1-mutated LCH patients.
Area of Science:
- Pediatric Oncology
- Molecular Genetics
- Histiocytosis Research
Background:
- Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm characterized by the proliferation of Langerhans cells.
- Genetic mutations, such as BRAFV600E, play a significant role in LCH pathogenesis.
- Emerging evidence suggests other genetic drivers, including MAP2K1 mutations, may influence LCH behavior.
Purpose of the Study:
- To investigate the specific genetic and clinical characteristics of pediatric Langerhans cell histiocytosis (LCH) cases harboring MAP2K1 mutations.
- To compare the clinical presentation and outcomes of MAP2K1-mutated LCH with BRAFV600E-mutated and non-mutated LCH cohorts.
Main Methods:
- Retrospective analysis of clinical data from 37 children with MAP2K1-mutated LCH.
- Comparison of clinical features against cohorts with BRAFV600E mutation (n=133) and no known mutation (n=59).
- Statistical analysis to identify significant differences in disease characteristics and outcomes.
Main Results:
- MAP2K1 mutations were identified, primarily at specific protein sites (p.53-62, p.98-103), with c.172_186del being the most common.
- MAP2K1-mutated LCH patients presented with single-system multiple bone involvement, later disease onset, and less risk organ involvement (especially liver) compared to BRAFV600E group.
- A 2-year progression-free survival rate of 65.6% was observed for first-line treatment in MAP2K1-mutated patients.
- Lung involvement, particularly with bony thorax involvement, was associated with a poor prognosis (HR=6.312).
Conclusions:
- Children with MAP2K1-mutated LCH exhibit unique clinical features necessitating tailored clinical stratification and treatment strategies.
- Lung involvement in MAP2K1-mutated LCH patients signals a poor prognosis, highlighting the need for vigilant monitoring and aggressive management.
- Further research into MAP2K1-driven LCH is warranted to optimize therapeutic approaches and improve patient outcomes.
Purpose:
To analyze the genetic and clinical features of children with MAP2K1-mutated Langerhans cell histiocytosis (LCH).
Methods:
We compared the clinical features of 37 children with MAP2K1-mutated LCH with those of the BRAFV600E mutation group (n = 133) and no known mutation group (n = 59) in the same period.
Results:
We found 13 mutations of the MAP2K1 gene, which were mainly concentrated at p.53-62 and p.98-103. The most common mutation site was c.172_186del (12/37). Compared with the BRAFV600E mutation group, the patients with MAP2K1 mutations were mainly characterized by single-system multiple bone involvement (P = 0.022), with later disease onset (P = 0.029) as well as less involvement of risk organs, especially liver (P = 0.024). There was no significant difference in clinical features compared with the no known mutation group. The 2-year progression-free survival rate of first-line treatment (ChiCTR1900025783, 07/09/2019) in MAP2K1-mutated patients was 65.6% ± 9.5%. The prognosis of patients with lung involvement was poor [HR (95% CI) = 6.312 (1.769-22.526), P = 0.005]. More progression or relapses could be found in patients with bony thorax involvement (8/17 vs. 2/20, P = 0.023), yet involvements in other sites of bones, such as craniofacial bone involvement (8/26 vs. 2/11, P = 0.688) and limb bone involvement (5/12 vs. 5/25, P = 0.240), were not correlated to disease progression or relapse.
Conclusion:
The children with MAP2K1-mutated LCH have specific clinical features requiring clinical stratification and precise treatment. MAP2K1-mutated patients with lung involvement (especially with bony thorax involvement) had poor prognosis.
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