What question did this study set out to answer?

This research aims to investigate how mutations in cell-free DNA relate to clinical outcomes in adult patients with langerhans cell histiocytosis.

December 8, 2025BloodOpen Access

Detection of mutation in cell-free DNA predicts poor outcomes in adult patients with langerhans cell histiocytosis

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ZLZhengzheng Liu

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Overview

Study demonstrates cell-free DNA mutation detection correlates with poor outcomes in adult langerhans cell histiocytosis patients, suggesting its use as a prognostic tool.

Key Points

This research aims to investigate how mutations in cell-free DNA relate to clinical outcomes in adult patients with langerhans cell histiocytosis.
Included 127 adults diagnosed with LCH, using both biopsy and plasma samples.
Biopsy tissues analyzed through next-generation sequencing to detect mutations.
Cell-free DNA extracted from plasma evaluated using QX200TM Droplet Digital PCR System.
Statistical association between cfDNA positivity and clinical features assessed.
41.7% sensitivity in detecting mutations in cfDNA matching biopsy results.
Higher cfDNA positivity in the multiple system involvement group (53.8%).
Baseline cfDNA positivity linked to poorer overall response rates (74.5% vs 96.8%).
Positive cfDNA at baseline associated with elevated inflammatory cytokines levels.

Cite This Study

Zhengzheng Liu (2025) studied this question.

synapsesocial.com/papers/69362f4b4fa91c937236d7a9 https://doi.org/10.1182/blood-2025-2035

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December 8, 2025BloodOpen Access

Detection of mutation in cell-free DNA predicts poor outcomes in adult patients with langerhans cell histiocytosis

View Full Paper

Ask AI

Bookmark

Authors

ZLZhengzheng Liu

Discussion

Member takes

Overview

Study demonstrates cell-free DNA mutation detection correlates with poor outcomes in adult langerhans cell histiocytosis patients, suggesting its use as a prognostic tool.

Key Points

This research aims to investigate how mutations in cell-free DNA relate to clinical outcomes in adult patients with langerhans cell histiocytosis.
Included 127 adults diagnosed with LCH, using both biopsy and plasma samples.
Biopsy tissues analyzed through next-generation sequencing to detect mutations.
Cell-free DNA extracted from plasma evaluated using QX200TM Droplet Digital PCR System.
Statistical association between cfDNA positivity and clinical features assessed.
41.7% sensitivity in detecting mutations in cfDNA matching biopsy results.
Higher cfDNA positivity in the multiple system involvement group (53.8%).
Baseline cfDNA positivity linked to poorer overall response rates (74.5% vs 96.8%).
Positive cfDNA at baseline associated with elevated inflammatory cytokines levels.

Cite This Study

Zhengzheng Liu (2025) studied this question.

synapsesocial.com/papers/69362f4b4fa91c937236d7a9 https://doi.org/10.1182/blood-2025-2035

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