{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:57:26Z","timestamp":1764172646228,"version":"3.41.2"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T00:00:00Z","timestamp":1722556800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>The gene <jats:italic>protection of telomere 1<\/jats:italic> (<jats:italic>POT1<\/jats:italic>) is involved in telomere maintenance and stability and plays a crucial role in the preservation of genomic stability. <jats:italic>POT1<\/jats:italic> is considered a high-penetrance melanoma susceptibility gene; however, the number of cancer types associated with the pathogenic germline variants of <jats:italic>POT1<\/jats:italic> is gradually increasing, including chronic lymphocytic leukemia (CLL), angiosarcomas, and gliomas, even though many associations are still elusive. Here, we reported a case of a 60-year-old man who showed early-onset multiple neoplasms, including multiple melanomas, gastrointestinal stromal tumor (GIST), and lung adenocarcinoma. Next-generation sequencing (NGS) analyses revealed a germline heterozygous pathogenic variant in the <jats:italic>POT1<\/jats:italic> gene. Notably, GIST and lung adenocarcinoma were not previously reported in association with the <jats:italic>POT1<\/jats:italic> germline variant. Lung cancer susceptibility syndrome is very rare and the actual knowledge is limited to a few genes although major genetic factors are unidentified. Recently, genome-wide association studies (GWAS) have pointed out an association between <jats:italic>POT1<\/jats:italic> variants and lung cancer. This case report highlights the clinical relevance of <jats:italic>POT1<\/jats:italic> alterations, particularly their potential involvement in lung cancer. It also suggests that <jats:italic>POT1<\/jats:italic> testing may be warranted in patients with familial cancer syndrome, particularly those with a history of melanoma and other solid tumors.<\/jats:p>","DOI":"10.3389\/fonc.2024.1419739","type":"journal-article","created":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T04:56:33Z","timestamp":1722574593000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: Germline POT1 mutation in a patient with GIST and lung adenocarcinoma"],"prefix":"10.3389","volume":"14","author":[{"given":"Stefania","family":"Martino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"De 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