Article
Clinically Sporadic Folliculin -mutated Renal Epithelial Neoplasms Represent a Mixture of True Somatic Folliculin -mutated and Occult Birt-Hogg-Dubé Syndrome-associated Cases : Morphologic and Molecular Overlap With TSC/MTOR -mutated Eosinophilic Renal Neoplasms and MiT Family Translocation Renal Cell Carcinoma.
The American journal of surgical pathology - 5 May 2025
Argani Pedram, Baraban Ezra, Yaskiv Oksana, Li Huili, Bhardwaj Swati, Dombrowski Katya, Lotan Tamara L, Zou Ying S, Patel Sunil H, Katz Betina, Cai Qi, Mehra Rohit, Barker Norman, Dudley Jonathan, Palsgrove Doreen N
Abstract excerpt
Germline mutations in the folliculin ( FLCN ) gene define Birt-Hogg-Dubé syndrome, which is associated with a variety of renal neoplasms; however, the role of FLCN mutations in sporadic renal neoplasms has not been well-defined. We identified 8 oncocytic/cystic renal neoplasms that presented as sporadic tumors and harbored FLCN mutations and no other genetic alterations characteristic of another established...
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