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Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With ATM Mutation

Small cell esophageal carcinoma (SCEC) is a rare, undifferential type of cancer, with a high degree of malignancy and early systemic metastasis. Radio-chemotherapy and surgery have been used as the primary treatment strategies for SCEC, but they both result in poor prognosis. There is need to develo...

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Autores principales: Wang, Weiwei, Zhang, Xiaoyan, Fang, Yu, He, Jia, Huang, Jingjing, Li, Shanqing, Ma, Tonghui, Li, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036436/
https://www.ncbi.nlm.nih.gov/pubmed/35480123
http://dx.doi.org/10.3389/fonc.2022.808801
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author Wang, Weiwei
Zhang, Xiaoyan
Fang, Yu
He, Jia
Huang, Jingjing
Li, Shanqing
Ma, Tonghui
Li, Li
author_facet Wang, Weiwei
Zhang, Xiaoyan
Fang, Yu
He, Jia
Huang, Jingjing
Li, Shanqing
Ma, Tonghui
Li, Li
author_sort Wang, Weiwei
collection PubMed
description Small cell esophageal carcinoma (SCEC) is a rare, undifferential type of cancer, with a high degree of malignancy and early systemic metastasis. Radio-chemotherapy and surgery have been used as the primary treatment strategies for SCEC, but they both result in poor prognosis. There is need to develop an optimal standard treatment for the disease to improve prognosis and limit the related mortality. In this study, we described identification of driver mutations in ATM, a gene involved in homologous recombination deficiency (HRD) pathway, using next-generation sequencing on primary lesion and peripheral blood of a SCEC patient, who experienced recurrence after resection and radio-chemotherapy. In addition, we subjected the patient to olaparib, a PARP inhibitor, for the treatment of tumor with HRD and obtained a partial response. This is the first evidence implicating olaparib in successful treatment of SCEC with ATM mutation. The findings suggest that targeting mutations in HRD genes using olaparib or actionable genetic mutations using corresponding drugs, may be an effective therapeutic option for SCEC, although this requires further investigation.
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spelling pubmed-90364362022-04-26 Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With ATM Mutation Wang, Weiwei Zhang, Xiaoyan Fang, Yu He, Jia Huang, Jingjing Li, Shanqing Ma, Tonghui Li, Li Front Oncol Oncology Small cell esophageal carcinoma (SCEC) is a rare, undifferential type of cancer, with a high degree of malignancy and early systemic metastasis. Radio-chemotherapy and surgery have been used as the primary treatment strategies for SCEC, but they both result in poor prognosis. There is need to develop an optimal standard treatment for the disease to improve prognosis and limit the related mortality. In this study, we described identification of driver mutations in ATM, a gene involved in homologous recombination deficiency (HRD) pathway, using next-generation sequencing on primary lesion and peripheral blood of a SCEC patient, who experienced recurrence after resection and radio-chemotherapy. In addition, we subjected the patient to olaparib, a PARP inhibitor, for the treatment of tumor with HRD and obtained a partial response. This is the first evidence implicating olaparib in successful treatment of SCEC with ATM mutation. The findings suggest that targeting mutations in HRD genes using olaparib or actionable genetic mutations using corresponding drugs, may be an effective therapeutic option for SCEC, although this requires further investigation. Frontiers Media S.A. 2022-04-11 /pmc/articles/PMC9036436/ /pubmed/35480123 http://dx.doi.org/10.3389/fonc.2022.808801 Text en Copyright © 2022 Wang, Zhang, Fang, He, Huang, Li, Ma and Li https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Wang, Weiwei
Zhang, Xiaoyan
Fang, Yu
He, Jia
Huang, Jingjing
Li, Shanqing
Ma, Tonghui
Li, Li
Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With ATM Mutation
title Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With ATM Mutation
title_full Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With ATM Mutation
title_fullStr Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With ATM Mutation
title_full_unstemmed Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With ATM Mutation
title_short Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With ATM Mutation
title_sort case report: olaparib shows satisfactory clinical outcomes against small cell esophageal carcinoma with atm mutation
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036436/
https://www.ncbi.nlm.nih.gov/pubmed/35480123
http://dx.doi.org/10.3389/fonc.2022.808801
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