Primary hemangioblastoma of rectum: a rare case report and review of literature

This case underscored the importance of considering hemangioblastoma in the differential diagnosis of rectal submucosal lesions. It highlighted the need for a thorough diagnostic approach that integrates colonoscopic evaluation with histopathological examination, particularly in patients presenting with altered stool consistency or melena. Furthermore, the NGS results implicated that TSC, SDH and PTEN may contribute to hemangioblastoma development. These alterations could constitute a novel diagnostic signature, a premise that warrants definitive investigation through larger, multi-institutional studies.