Integrative Clinical and Molecular Evaluation of Renal Cell Carcinoma with Merlin Protein Deficiency and Biallelic Loss of NF2.

ABSTRACT:

Purpose

In renal cell carcinoma (RCC), loss of the NF2 tumor suppressor gene encoding the merlin protein is associated with aggressive clinical behavior. However, data regarding the clinical course and additional molecular features in the context of contemporary systemic therapies remains limited.

Methods

Clinical outcomes were evaluated in patients with RCC exhibiting merlin loss by immunohistochemistry in one academic cohort. Integrative genomic analyses were performed, including targeted DNA sequencing via the institutional OncoPanel assay and RNA sequencing data from The Cancer Genome Atlas (TCGA).

Results

In the institutional cohort (n=33), most patients had biphasic hyalinizing psammomatous RCC (66.6%) and metastatic disease (78.8%). Among 23 patients receiving

SUBMITTER: Yekeduz E 

PROVIDER: S-EPMC12924687 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature