Genetic Characterization of Turkish Patients with Pituitary Neuroendocrine Tumors

To examine the genetic results of patients diagnosed with pituitary neuroendocrine tumors (PitNETs) with respect to clinical, radiological, and pathological findings.

A total of 53 patients (30 men and 23 women) diagnosed with PitNETs were included in the study. The clinical findings, family history, imaging, and pathology results were recorded. The DNA was isolated from the peripheral blood. A customized panel test with the highest number of genes (28 genes associated with PitNET) found in the literature was used. Sequencing was conducted using the next-generation sequencing method, and the variants were analyzed according to current guidelines.

A total of 22 variants were identified in 20 patients, two of which were determined to be pathogenic. Pathogenic variants were detected in AIP (c.468+1G > A) and MEN1 (c.1102_1104del) genes, which showed the most common pathogenic variant. Variants of unknown clinical significance were most frequently detected in the MSH6, RET, and CDH23 genes.

Although the number of studies that conducted multigene testing in patients with PitNETs is limited, all studies, including ours, have shown that the patient?s age at diagnosis and family history are the most important determinants of germline variant detection.