Anti-BCL2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune induction

Abstract Giant congenital melanocytic nevus (GCMN) is a RAS/RAF mutation-driven syndrome characterized by extensive melanocytic lesions, posing psychological challenges and a lifelong risk of malignancy. Existing treatments like surgical resection and laser therapy fail to fully remove lesions, and...

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Main Authors: Boxuan Wei, Qingxiong Yu, Jiamin Jin, Danli Zhu, Bohan Lai, Jieyu Gu, Ran Yang, Huailiang Huang, Hongzhan Lin, Liang Zhang, Tao Zan, Feng Xie, Kang Zhang, Qingfeng Li
Format: Article
Language:English
Published: Nature Publishing Group 2025-05-01
Series:Signal Transduction and Targeted Therapy
Online Access:https://doi.org/10.1038/s41392-025-02247-2
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author Boxuan Wei
Qingxiong Yu
Jiamin Jin
Danli Zhu
Bohan Lai
Jieyu Gu
Ran Yang
Huailiang Huang
Hongzhan Lin
Liang Zhang
Tao Zan
Feng Xie
Kang Zhang
Qingfeng Li
author_facet Boxuan Wei
Qingxiong Yu
Jiamin Jin
Danli Zhu
Bohan Lai
Jieyu Gu
Ran Yang
Huailiang Huang
Hongzhan Lin
Liang Zhang
Tao Zan
Feng Xie
Kang Zhang
Qingfeng Li
author_sort Boxuan Wei
collection DOAJ
description Abstract Giant congenital melanocytic nevus (GCMN) is a RAS/RAF mutation-driven syndrome characterized by extensive melanocytic lesions, posing psychological challenges and a lifelong risk of malignancy. Existing treatments like surgical resection and laser therapy fail to fully remove lesions, and MAPK inhibitors show limited efficacy. This study identified a predominant population of senescent cells and a minority of proliferative cells in GCMN, necessitating dual-targeted strategies. We found that the anti-apoptotic protein BCL2 is expressed in both senescent and proliferative cells from GCMN patients with various gene mutations. Coexpression of P16 and BCL2 indicated a phenotype of growth arrest and cell survival. BCL2 inhibitors (BCL2i) showed significant cytotoxicity to GCMN cells in vitro. Hypopigmentation and GCMN cell clearance were observed in patient-derived xenograft models and in Nras Q61K-mutated and Braf V600E-mutated transgenic models following BCL2i treatment. Histology of regressed GCMN indicated extensive immune cell infiltration, suggesting immune involvement. Single-cell sequencing and immunostaining revealed that activated neutrophils formed extracellular traps, synergizing with BCL2i to treat GCMN. Neutrophil depletion and immunosuppression reduce treatment efficacy, highlighting the crucial role of the immune response post-BCL2i treatment. Long-term follow-up showed no recurrence, with neutrophils and T cells residing in the dermis, indicating memory immune reactions. These findings present a promising therapeutic strategy and underscore the translational potential of BCL2i in treating GCMN.
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spelling doaj-art-28769c736fed424cb2ff3285cae2bb812025-08-20T03:07:57ZengNature Publishing GroupSignal Transduction and Targeted Therapy2059-36352025-05-0110111510.1038/s41392-025-02247-2Anti-BCL2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune inductionBoxuan Wei0Qingxiong Yu1Jiamin Jin2Danli Zhu3Bohan Lai4Jieyu Gu5Ran Yang6Huailiang Huang7Hongzhan Lin8Liang Zhang9Tao Zan10Feng Xie11Kang Zhang12Qingfeng Li13Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineCAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of SciencesDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineCenter for Biomedicine and Innovations, Faculty of Medicine, Macau University of Science and TechnologyDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineAbstract Giant congenital melanocytic nevus (GCMN) is a RAS/RAF mutation-driven syndrome characterized by extensive melanocytic lesions, posing psychological challenges and a lifelong risk of malignancy. Existing treatments like surgical resection and laser therapy fail to fully remove lesions, and MAPK inhibitors show limited efficacy. This study identified a predominant population of senescent cells and a minority of proliferative cells in GCMN, necessitating dual-targeted strategies. We found that the anti-apoptotic protein BCL2 is expressed in both senescent and proliferative cells from GCMN patients with various gene mutations. Coexpression of P16 and BCL2 indicated a phenotype of growth arrest and cell survival. BCL2 inhibitors (BCL2i) showed significant cytotoxicity to GCMN cells in vitro. Hypopigmentation and GCMN cell clearance were observed in patient-derived xenograft models and in Nras Q61K-mutated and Braf V600E-mutated transgenic models following BCL2i treatment. Histology of regressed GCMN indicated extensive immune cell infiltration, suggesting immune involvement. Single-cell sequencing and immunostaining revealed that activated neutrophils formed extracellular traps, synergizing with BCL2i to treat GCMN. Neutrophil depletion and immunosuppression reduce treatment efficacy, highlighting the crucial role of the immune response post-BCL2i treatment. Long-term follow-up showed no recurrence, with neutrophils and T cells residing in the dermis, indicating memory immune reactions. These findings present a promising therapeutic strategy and underscore the translational potential of BCL2i in treating GCMN.https://doi.org/10.1038/s41392-025-02247-2
spellingShingle Boxuan Wei
Qingxiong Yu
Jiamin Jin
Danli Zhu
Bohan Lai
Jieyu Gu
Ran Yang
Huailiang Huang
Hongzhan Lin
Liang Zhang
Tao Zan
Feng Xie
Kang Zhang
Qingfeng Li
Anti-BCL2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune induction
Signal Transduction and Targeted Therapy
title Anti-BCL2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune induction
title_full Anti-BCL2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune induction
title_fullStr Anti-BCL2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune induction
title_full_unstemmed Anti-BCL2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune induction
title_short Anti-BCL2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune induction
title_sort anti bcl2 therapy eliminates giant congenital melanocytic nevus by senolytic and immune induction
url https://doi.org/10.1038/s41392-025-02247-2
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