Multiple bronchial carcinoids associated with Cowden syndrome.
Endocrine
; 84(3): 880-884, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38353885
ABSTRACT
Cowden syndrome (CS) is a rare genetic condition due to the various germline mutations in the phosphatase and tensin homologue on chromosome ten (PTEN) tumour suppressor gene. As a result, CS is characterised by an increased risk of developing various benign and malignant tumours, such as thyroid, breast, endometrial and urogenital neoplasms, as well as gastrointestinal tract tumours. However, the neuroendocrine tumour association with CS is not elucidated yet. We present a case of a 46-year-old male patient diagnosed with testicular seminoma and follicular thyroid cancer in his medical history. Our patient met the clinical diagnostic criteria of Cowden syndrome. Genetic analysis established the clinical diagnosis; a known heterozygous PTEN mutation was detected [PTEN (LRG_311t1)c.388 C > T (p.Arg130Ter)]. Incidentally, he was also seen with multiple pulmonary lesions during his oncological follow-up. A video-assisted thoracoscopic left lingula wedge resection and later resections from the right lung were performed. Histological findings revealed typical pulmonary carcinoid tumours and smaller tumorlets. Somatostatin receptor SPECT-CT, 18F-FDG-PET-CT and 18F-FDOPA-PET-CT scans and endoscopy procedures could not identify any primary tumours in other locations. Our patient is the first published case of Cowden syndrome, associated with multifocal pulmonary carcinoids. Besides multiple endocrine neoplasia type 1, we propose Cowden syndrome as another hereditary condition predisposing to multiple pulmonary tumorlets and carcinoid tumours.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hamartoma Syndrome, Multiple
/
Carcinoid Tumor
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Endocrine
Journal subject:
ENDOCRINOLOGIA
Year:
2024
Document type:
Article
Affiliation country: