Clinicopathological and Molecular Profile of Sellar Neurocytoma

J Clin Endocrinol Metab. 2024 Apr 16:dgae260. doi: 10.1210/clinem/dgae260. Online ahead of print.

Abstract

Objective: To investigate the clinical features, imaging characteristics and molecular profile of Sellar neurocytoma (SN).

Methods: Clinical, imaging, and pathological features of eleven cases of sellar neurocytoma were retrospectively analyzed. Electron microscopy was performed in five cases. Molecular features were detected in tumor tissue by RNA sequencing, qPCR and IHC.

Results: The clinical features of SN patients showed high incidence of hyponatremia (73%,8/11) and the tumors tended to invaded lateral side of saddle area from preoperative imaging analysis. The tumors had positive NeuN, SYN, NF, SSTR2 immunohistochemistry staining. Tumor transcriptomic analysis suggested a new LMCD1-AS1:GRM7-AS1 fusion gene event and increased expression of 10 hypothalamus-secreted hormones in SN. 15 differentially expressed genes were verified for qPCR verification. SSTR2 has been verified by immunohistochemistry.

Conclusions: Hyponatremia is the dominant clinical features of SN. Preoperative imaging suggests that growth toward the dorsal region is the imaging feature of SN. SSTR2 expression and LMCD1-AS1:GRM7-AS1 fusion gene event expected to become a new molecular marker for SN. Somatostatin receptor ligand therapy may be a potential therapy for SN.

Keywords: Fusion Gene; Hyponatremia; Molecular Profile; Radiologic Characteristic; SSTR2; Sellar Neurocytoma.