Case report: Germline POT1 mutation in a patient with GIST and lung adenocarcinoma

• Published in: Frontiers in oncology Vol. 14; p. 1419739
• Main Authors: Martino, Stefania, De Summa, Simona, Pilato, Brunella, Digennaro, Maria, Laera, Letizia, Tommasi, Stefania, Patruno, Margherita
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 02.08.2024
• Subjects: case report; GIST; lung adenocarcinoma; POT1; tumor predisposition syndrome; POT1; case report; GIST; tumor predisposition syndrome; lung adenocarcinoma
• ISSN: 2234-943X; 2234-943X
• DOI: 10.3389/fonc.2024.1419739

The gene ( ) is involved in telomere maintenance and stability and plays a crucial role in the preservation of genomic stability. is considered a high-penetrance melanoma susceptibility gene; however, the number of cancer types associated with the pathogenic germline variants of 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 gene. Notably, GIST and lung adenocarcinoma were not previously reported in association with the 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 variants and lung cancer. This case report highlights the clinical relevance of alterations, particularly their potential involvement in lung cancer. It also suggests that testing may be warranted in patients with familial cancer syndrome, particularly those with a history of melanoma and other solid tumors.