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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

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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
Authors: Yuan Yu, Nan-Jing Li, Jin Wang
Source: Frontiers in Oncology, Vol 14 (2025)
Publisher Information: Frontiers Media S.A., 2025.
Publication Year: 2025
Collection: LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Subject Terms: pemetrexed, next-generation sequencing, adenocarcinoma, lung cancer, MTHFR, polymorphism, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
More Details: 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.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 2234-943X
Relation: https://www.frontiersin.org/articles/10.3389/fonc.2024.1435357/full; https://doaj.org/toc/2234-943X
DOI: 10.3389/fonc.2024.1435357
Access URL: https://doaj.org/article/b14769ab1bd84cb98d347579243fd5a5
Accession Number: edsdoj.b14769ab1bd84cb98d347579243fd5a5
Database: Directory of Open Access Journals
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  Data: 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
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  Data: <searchLink fieldCode="AR" term="%22Yuan+Yu%22">Yuan Yu</searchLink><br /><searchLink fieldCode="AR" term="%22Nan-Jing+Li%22">Nan-Jing Li</searchLink><br /><searchLink fieldCode="AR" term="%22Jin+Wang%22">Jin Wang</searchLink>
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  Data: <searchLink fieldCode="DE" term="%22pemetrexed%22">pemetrexed</searchLink><br /><searchLink fieldCode="DE" term="%22next-generation+sequencing%22">next-generation sequencing</searchLink><br /><searchLink fieldCode="DE" term="%22adenocarcinoma%22">adenocarcinoma</searchLink><br /><searchLink fieldCode="DE" term="%22lung+cancer%22">lung cancer</searchLink><br /><searchLink fieldCode="DE" term="%22MTHFR%22">MTHFR</searchLink><br /><searchLink fieldCode="DE" term="%22polymorphism%22">polymorphism</searchLink><br /><searchLink fieldCode="DE" term="%22Neoplasms%2E+Tumors%2E+Oncology%2E+Including+cancer+and+carcinogens%22">Neoplasms. Tumors. Oncology. Including cancer and carcinogens</searchLink><br /><searchLink fieldCode="DE" term="%22RC254-282%22">RC254-282</searchLink>
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  Data: 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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        Value: 10.3389/fonc.2024.1435357
    Languages:
      – Text: English
    Subjects:
      – SubjectFull: pemetrexed
        Type: general
      – SubjectFull: next-generation sequencing
        Type: general
      – SubjectFull: adenocarcinoma
        Type: general
      – SubjectFull: lung cancer
        Type: general
      – SubjectFull: MTHFR
        Type: general
      – SubjectFull: polymorphism
        Type: general
      – SubjectFull: Neoplasms. Tumors. Oncology. Including cancer and carcinogens
        Type: general
      – SubjectFull: RC254-282
        Type: general
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      – TitleFull: 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
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            NameFull: Nan-Jing Li
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            NameFull: Jin Wang
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              Y: 2025
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