Journal of Experimental and Molecular Pathology

Small cell neuroendocrine carcinoma of the cervix (SCNECC) is a rare and clinically aggressive subtype of cervical cancer associated with a poor prognosis. To investigate its underlying pathological mechanisms and identify potential therapeutic targets, researchers have increasingly employed single-omics or multi-omics integrated analysis, including single-cell transcriptome sequencing, proteomics, whole-exome sequencing, and genomics.

Cancer of unknown primary (CUP) is a clinicopathological syndrome of metastatic cancers without an identifiable anatomical primary site and has remained a diagnostic and treatment enigma for decades. Clinically occult primary tumor sites have been found by autopsies in about 75% of cases from more than twenty different sites [1], but some primaries are buried deep in tissues/organs and would require thousands of blind tissue sections to find.

Sturge-Weber Syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by a facial port-wine stain (PWS), leptomeningeal vascular anomalies and ocular involvement, most commonly glaucoma. Bilateral SWS represents a clinically distinct and often more severe variant, frequently associated with bilateral glaucoma and complex intracranial findings. 

Background: Multigene next-generation sequencing (NGS) has transformed molecular diagnostics in oncology over the past decade, increasingly replaced single-gene approaches such as Sanger sequencing.