Circulating Tumor DNA Combining with Imaging Analysis for Lesion Detection of Langerhans Cell Histiocytosis in Children
Background: The detection of mutations from circulating tumor DNA (ctDNA) represents a promising enrichment technique. In this retrospective study, the significance of ctDNA and imaging in Langerhans cell histiocytosis (LCH) monitoring was first examined, and the broader role of ctDNA in monitoring...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-11-01
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| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/11/12/1449 |
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| Summary: | Background: The detection of mutations from circulating tumor DNA (ctDNA) represents a promising enrichment technique. In this retrospective study, the significance of ctDNA and imaging in Langerhans cell histiocytosis (LCH) monitoring was first examined, and the broader role of ctDNA in monitoring LCH was additionally explored. Methods: First, data visualization and survival analysis models were used to generalize the concordance between cfBRAF<sup>V600E</sup> molecular response and radiographic response on clinical outcomes. Next, the molecular response of cfBRAF<sup>V600E</sup> was observed from a dynamic perspective. A comparative analysis was then conducted between cfBRAF<sup>V600E</sup> and ltBRAF<sup>V600E</sup> status, examining their relationship to clinical manifestations and prognosis of LCH. Results: Eventually, 119 participants were enrolled in this trial between 2019 and 2023. Progression-free survival (PFS) was significantly shorter in patients with both radiologic and cfDNA molecular progression (17.67 versus 24.67 months, <i>p</i> < 0.05) compared to those without. A critical cfBRAF<sup>V600E</sup> value of 0.03% has been determined for the first time. Both cfBRAF<sup>V600E</sup> and ltBRAF<sup>V600E</sup> mutations were associated with a higher proportion of children under 3 years of age, skin and spleen involvement, and a lower 3-year PFS rate. In contrast to ltBRAF<sup>V600E</sup>, cfBRAF<sup>V600E</sup> was linked to a higher proportion of risk organ invasion LCH (52% vs. 27.9%, <i>p</i> < 0.05) and a better therapeutic response at the sixth week (24% vs. 4.7%, <i>p</i> < 0.05). Furthermore, in patients with risk organ invasion-LCH and multisystem-LCH subtypes, cfBRAF<sup>V600E</sup> was associated with a significantly lower 3-year PFS. Conclusions: In summary, these findings enhanced and supplemented the implications of ctDNA and imaging analysis application in children with LCH. |
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| ISSN: | 2227-9067 |