Multiple bronchial carcinoids associated with Cowden syndrome

• DOI: 10.1007/s12020-024-03693-8
• Publication Date: 2024-02-14T06:02:47Z
• Authors: Zsófia Tömböl; Judit Tőke; Géza Tóth; Zsolt Varga; Eszter Balázs; Erika Tóth; Lajos Gergely; Ľudovít Danihel; Márta Medvecz; Katalin Borka; Miklós Tóth
• Keywords: Cowden syndrome; HRAS; MEN1; Birt–Hogg–Dubé syndrome

Abstract Cowden syndrome (CS) is a rare genetic condition due to the various germline mutations in phosphatase and tensin homologue on chromosome ten ( PTEN ) tumour suppressor gene. As result, CS characterised by an increased risk of developing benign malignant tumours, such as thyroid, breast, endometrial urogenital neoplasms, well gastrointestinal tract tumours. However, neuroendocrine association with not elucidated yet. We present case 46-year-old male patient diagnosed testicular seminoma follicular thyroid cancer his medical history. Our met clinical diagnostic criteria syndrome. Genetic analysis established diagnosis; known heterozygous mutation was detected [ (LRG_311t1)c.388 C > T (p.Arg130Ter)]. Incidentally, he also seen multiple pulmonary lesions during oncological follow-up. A video-assisted thoracoscopic left lingula wedge resection later resections from right lung were performed. Histological findings revealed typical carcinoid tumours smaller tumorlets. Somatostatin receptor SPECT-CT, 18 F-FDG-PET-CT F-FDOPA-PET-CT scans endoscopy procedures could identify any primary other locations. first published syndrome, associated multifocal carcinoids. Besides endocrine neoplasia type 1, we propose another hereditary predisposing tumorlets