Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case report

This case report presents a patient with metastatic adenocarcinoma of unclear primary focus at initial presentation and revealed lung adenocarcinoma in subsequent follow-up. The patient has been surviving for more than 10 years after pemetrexed-based treatment and local radiotherapy. Sequential gene...

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Main Authors: Yuan Yu, Nan-Jing Li, Jin Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Oncology
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Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2024.1435357/full
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author Yuan Yu
Yuan Yu
Yuan Yu
Nan-Jing Li
Nan-Jing Li
Nan-Jing Li
Nan-Jing Li
Jin Wang
Jin Wang
Jin Wang
Jin Wang
author_facet Yuan Yu
Yuan Yu
Yuan Yu
Nan-Jing Li
Nan-Jing Li
Nan-Jing Li
Nan-Jing Li
Jin Wang
Jin Wang
Jin Wang
Jin Wang
author_sort Yuan Yu
collection DOAJ
description This case report presents a patient with metastatic adenocarcinoma of unclear primary focus at initial presentation and revealed lung adenocarcinoma in subsequent follow-up. The patient has been surviving for more than 10 years after pemetrexed-based treatment and local radiotherapy. Sequential gene tests showed kirsten rat sarcoma viral oncogene homolog (KRAS) G13D mutation and epidermal growth factor receptor (EGFR) 19ins. To further investigate the correlation between pemetrexed efficacy and genetic polymorphisms, genotyping tests on folate-metabolism-related genes [methylenetetrahydrofolate reductase (MTHFR) (C677T) and MTHFR (A1298C)] were performed, revealing that the patient exhibited the T/T genotype for MTHFR (C677T) and the A/A genotype for MTHFR (A1298C). The clinical data and gene analysis were discussed with literature review to explain the underlying explanation for the long survival.
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publishDate 2025-01-01
publisher Frontiers Media S.A.
record_format Article
series Frontiers in Oncology
spelling doaj-art-b14769ab1bd84cb98d347579243fd5a52025-01-21T05:43:34ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-01-011410.3389/fonc.2024.14353571435357Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case reportYuan Yu0Yuan Yu1Yuan Yu2Nan-Jing Li3Nan-Jing Li4Nan-Jing Li5Nan-Jing Li6Jin Wang7Jin Wang8Jin Wang9Jin Wang10Division of Thoracic Tumor Multimodality Treatment and Department of Medical Oncology, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaWest China Medical School, Sichuan University, Chengdu, Sichuan, ChinaWest China Biomedical Big Data Center, Sichuan University, Chengdu, Sichuan, ChinaDivision of Thoracic Tumor Multimodality Treatment and Department of Medical Oncology, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaWest China Medical School, Sichuan University, Chengdu, Sichuan, ChinaWest China Biomedical Big Data Center, Sichuan University, Chengdu, Sichuan, ChinaDivision of Radiotherapy, Cancer Center, West China Hospital, Sichuan University, Chengdu, ChinaDivision of Thoracic Tumor Multimodality Treatment and Department of Medical Oncology, Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, ChinaWest China Medical School, Sichuan University, Chengdu, Sichuan, ChinaWest China Biomedical Big Data Center, Sichuan University, Chengdu, Sichuan, ChinaDivision of Radiotherapy, Cancer Center, West China Hospital, Sichuan University, Chengdu, ChinaThis case report presents a patient with metastatic adenocarcinoma of unclear primary focus at initial presentation and revealed lung adenocarcinoma in subsequent follow-up. The patient has been surviving for more than 10 years after pemetrexed-based treatment and local radiotherapy. Sequential gene tests showed kirsten rat sarcoma viral oncogene homolog (KRAS) G13D mutation and epidermal growth factor receptor (EGFR) 19ins. To further investigate the correlation between pemetrexed efficacy and genetic polymorphisms, genotyping tests on folate-metabolism-related genes [methylenetetrahydrofolate reductase (MTHFR) (C677T) and MTHFR (A1298C)] were performed, revealing that the patient exhibited the T/T genotype for MTHFR (C677T) and the A/A genotype for MTHFR (A1298C). The clinical data and gene analysis were discussed with literature review to explain the underlying explanation for the long survival.https://www.frontiersin.org/articles/10.3389/fonc.2024.1435357/fullpemetrexednext-generation sequencingadenocarcinomalung cancerMTHFRpolymorphism
spellingShingle Yuan Yu
Yuan Yu
Yuan Yu
Nan-Jing Li
Nan-Jing Li
Nan-Jing Li
Nan-Jing Li
Jin Wang
Jin Wang
Jin Wang
Jin Wang
Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case report
Frontiers in Oncology
pemetrexed
next-generation sequencing
adenocarcinoma
lung cancer
MTHFR
polymorphism
title Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case report
title_full Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case report
title_fullStr Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case report
title_full_unstemmed Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case report
title_short Long-term survival with pemetrexed-based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring MTHFR C677T(T/T) mutation: a case report
title_sort long term survival with pemetrexed based chemotherapy in a patient with metastatic lung adenocarcinoma of unclear primary origin harboring mthfr c677t t t mutation a case report
topic pemetrexed
next-generation sequencing
adenocarcinoma
lung cancer
MTHFR
polymorphism
url https://www.frontiersin.org/articles/10.3389/fonc.2024.1435357/full
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