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Article

Renal Cell Carcinoma Unclassified with Medullary Phenotype in a Patient with Neurofibromatosis Type 2.

Current oncology (Toronto, Ont.) - 14 Mar 2023

Sarkar Sanila, Throckmorton Whitney, Bingham Racheal, Msaouel Pavlos, Genovese Giannicola, Slopis John, Rao Priya, Sadighi Zsila, Herzog Cynthia E

Abstract excerpt

We present, to our knowledge, the first reported case of germline neurofibromatosis Type 2 (NF2) associated with renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) with somatic loss by immunohistochemistry of the SMARCB1 tumor suppressor gene located centromeric to NF2 on chromosome 22q. Our patient is a 15-year-old with germline neurofibromatosis Type 2 (NF2) confirmed by pathogenic mutation of...

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Identifiers

PMID: 36975468
DOI: 10.3390/curroncol30030255
PMCID: PMC10047671

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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