Exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with LCNEC: A case report

Immune checkpoint inhibitors (ICIs) have emerged as a promising therapeutic option for large cell neuroendocrine carcinoma (LCNEC). However, various studies have suggested a potential risk of hyperprogressive disease (HPD) in patients receiving ICI, which might be associated with gene alterations. H...

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Main Authors: Yao Zhang, Jiayao Yang, Tianyu Shao, Jialu Chen, Qijin Shu, Liumei Shou
Format: Article
Language:English
Published: Taylor & Francis Group 2024-12-01
Series:Human Vaccines & Immunotherapeutics
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Online Access:https://www.tandfonline.com/doi/10.1080/21645515.2024.2313281
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author Yao Zhang
Jiayao Yang
Tianyu Shao
Jialu Chen
Qijin Shu
Liumei Shou
author_facet Yao Zhang
Jiayao Yang
Tianyu Shao
Jialu Chen
Qijin Shu
Liumei Shou
author_sort Yao Zhang
collection DOAJ
description Immune checkpoint inhibitors (ICIs) have emerged as a promising therapeutic option for large cell neuroendocrine carcinoma (LCNEC). However, various studies have suggested a potential risk of hyperprogressive disease (HPD) in patients receiving ICI, which might be associated with gene alterations. Here, this is the first report on an unknown primary LCNEC patient who had achieved a long-term response from ICI treatment (atezolizumab), but developed HPD after tumor progression due to receiving another ICI agent (serplulimab). The mutation region of FAT4, SMARCA4, CYLD, CTNNB1, and KIT was altered prior to serplulimab treatment compared to before atezolizumab treatment. This case suggested a potential association between these mutated genes and HPD. Patients with the aforementioned genes should caution when selecting ICI treatment. These findings required further confirmation in a larger study cohort.
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publisher Taylor & Francis Group
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series Human Vaccines & Immunotherapeutics
spelling doaj-art-4bdbddadbc0142e580911cf85e32913c2025-08-20T02:34:25ZengTaylor & Francis GroupHuman Vaccines & Immunotherapeutics2164-55152164-554X2024-12-0120110.1080/21645515.2024.2313281Exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with LCNEC: A case reportYao Zhang0Jiayao Yang1Tianyu Shao2Jialu Chen3Qijin Shu4Liumei Shou5The First School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, ChinaThe First School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, ChinaDepartment of Oncology, Guang’ Anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, ChinaDepartment of Oncology, Hangzhou Third People’s Hospital, Hangzhou, ChinaDepartment of Oncology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), Hangzhou, ChinaDepartment of Oncology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), Hangzhou, ChinaImmune checkpoint inhibitors (ICIs) have emerged as a promising therapeutic option for large cell neuroendocrine carcinoma (LCNEC). However, various studies have suggested a potential risk of hyperprogressive disease (HPD) in patients receiving ICI, which might be associated with gene alterations. Here, this is the first report on an unknown primary LCNEC patient who had achieved a long-term response from ICI treatment (atezolizumab), but developed HPD after tumor progression due to receiving another ICI agent (serplulimab). The mutation region of FAT4, SMARCA4, CYLD, CTNNB1, and KIT was altered prior to serplulimab treatment compared to before atezolizumab treatment. This case suggested a potential association between these mutated genes and HPD. Patients with the aforementioned genes should caution when selecting ICI treatment. These findings required further confirmation in a larger study cohort.https://www.tandfonline.com/doi/10.1080/21645515.2024.2313281Large cell neuroendocrine carcinoma (LCNEC)immune checkpoint inhibitors (ICIs)retreatment with immunotherapyhyperprogressive disease (HPD)genetic characterization
spellingShingle Yao Zhang
Jiayao Yang
Tianyu Shao
Jialu Chen
Qijin Shu
Liumei Shou
Exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with LCNEC: A case report
Human Vaccines & Immunotherapeutics
Large cell neuroendocrine carcinoma (LCNEC)
immune checkpoint inhibitors (ICIs)
retreatment with immunotherapy
hyperprogressive disease (HPD)
genetic characterization
title Exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with LCNEC: A case report
title_full Exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with LCNEC: A case report
title_fullStr Exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with LCNEC: A case report
title_full_unstemmed Exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with LCNEC: A case report
title_short Exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with LCNEC: A case report
title_sort exploration of genetic characterization in hyperprogressive disease after immunotherapy retreatment in a patient with lcnec a case report
topic Large cell neuroendocrine carcinoma (LCNEC)
immune checkpoint inhibitors (ICIs)
retreatment with immunotherapy
hyperprogressive disease (HPD)
genetic characterization
url https://www.tandfonline.com/doi/10.1080/21645515.2024.2313281
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