TY - JOUR
T1 - Lung adenocarcinoma in a patient with Lynch syndrome
T2 - a case report and literature review
AU - Hodges, Alan
AU - Sun, Kai
AU - Sheu, Tiffany G.
AU - Bernicker, Eric H.
N1 - Publisher Copyright:
Copyright © 2023 Hodges, Sun, Sheu and Bernicker.
PY - 2023
Y1 - 2023
N2 - This article presents a case of a 62-year-old Vietnamese woman with a history of Lynch syndrome (LS), who developed lung adenocarcinoma with EGFR L858R mutation. LS is an autosomal dominant cancer predisposition syndrome caused by a pathogenic germline variant in DNA mismatch repair genes, often leading to microsatellite instability. While LS is primarily associated with gastrointestinal, endometrial, ovarian, and urologic tract cancers, lung cancer accounts for less than 1% of LS-related cancers, with only six cases of LS-related lung cancer previously reported in the literature. The patient underwent multiple lines of treatment for her lung adenocarcinoma, including tyrosine kinase inhibitors, stereotactic body radiation therapy, pemetrexed and pembrolizumab, amivantamab, and fam-trastuzumab deruxtecan, but all resulted in only a partial response followed by a progressive disease. This case highlights the complex interplay of genetic cancer predisposition syndromes and the development of spontaneous driver mutations in the disease course and the subsequent management of tumors arising in these patients.
AB - This article presents a case of a 62-year-old Vietnamese woman with a history of Lynch syndrome (LS), who developed lung adenocarcinoma with EGFR L858R mutation. LS is an autosomal dominant cancer predisposition syndrome caused by a pathogenic germline variant in DNA mismatch repair genes, often leading to microsatellite instability. While LS is primarily associated with gastrointestinal, endometrial, ovarian, and urologic tract cancers, lung cancer accounts for less than 1% of LS-related cancers, with only six cases of LS-related lung cancer previously reported in the literature. The patient underwent multiple lines of treatment for her lung adenocarcinoma, including tyrosine kinase inhibitors, stereotactic body radiation therapy, pemetrexed and pembrolizumab, amivantamab, and fam-trastuzumab deruxtecan, but all resulted in only a partial response followed by a progressive disease. This case highlights the complex interplay of genetic cancer predisposition syndromes and the development of spontaneous driver mutations in the disease course and the subsequent management of tumors arising in these patients.
KW - Lynch syndrome
KW - MLH1
KW - NSCLC
KW - ctDNA
KW - immune checkpoint therapy
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U2 - 10.3389/fonc.2023.1193503
DO - 10.3389/fonc.2023.1193503
M3 - Article
C2 - 37901336
AN - SCOPUS:85175376660
SN - 2234-943X
VL - 13
SP - 1193503
JO - Frontiers in Oncology
JF - Frontiers in Oncology
M1 - 1193503
ER -