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Journal of Cancer Research and Clinical Oncology

Erschienen in:

30.09.2021 | Original Article – Clinical Oncology

Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children

verfasst von: Ying Yang, Chanjuan Wang, Dong Wang, Lei Cui, Na Li, Hongyun Lian, Honghao Ma, Yunze Zhao, Liping Zhang, Wei Liu, Yizhuo Wang, Wanshui Wu, Rui Zhang, Zhigang Li, Tianyou Wang

Erschienen in: Journal of Cancer Research and Clinical Oncology | Ausgabe 9/2022

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Abstract

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 BRAF^V600E 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 BRAF^V600E 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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Titel: Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children
verfasst von: Ying Yang
Chanjuan Wang
Dong Wang
Lei Cui
Na Li
Hongyun Lian
Honghao Ma
Yunze Zhao
Liping Zhang
Wei Liu
Yizhuo Wang
Wanshui Wu
Rui Zhang
Zhigang Li
Tianyou Wang
Publikationsdatum: 30.09.2021
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Cancer Research and Clinical Oncology / Ausgabe 9/2022
Print ISSN: 0171-5216
Elektronische ISSN: 1432-1335
DOI: https://doi.org/10.1007/s00432-021-03810-4

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Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children