A novel case of glial transdifferentiation in renal medullary carcinoma brain metastasis DOI Creative Commons

Maria A. Gubbiotti,

Ian E. McCutcheon,

Priya Rao

et al.

Acta Neuropathologica Communications, Journal Year: 2025, Volume and Issue: 13(1)

Published: Jan. 20, 2025

Abstract Renal medullary carcinoma is a rare undifferentiated tumor of the kidney associated with sickle cell trait and characterized by INI1 (SMARCB1) loss. Although metastasis to lungs, lymph nodes, bone commonly reported, distant spread central nervous system almost never occurs. Here we present an unusual case patient renal brain following treatment which included tazemetostat, EZH2 inhibitor. The metastatic lesion harbored morphologic, immunohistochemical, methylation profile supportive primary CNS phenotype loss trimethylated lysine 27 residue histone 3 while maintaining specific gene fusion shared patient’s prior initiation tazemetostat therapy. Therefore, given common genetic signatures in tumor, this represents event glial transdifferentiation use epigenetic modulator. As has been known cleverly utilize adaptive mechanisms for survival, propose that such plasticity seen may have provoked drug alters signature cells. Thus, careful assessment biology novel therapeutic options must be performed order note unexpected consequences treatment.

Language: Английский

A novel case of glial transdifferentiation in renal medullary carcinoma brain metastasis DOI Creative Commons

Maria A. Gubbiotti,

Ian E. McCutcheon,

Priya Rao

et al.

Acta Neuropathologica Communications, Journal Year: 2025, Volume and Issue: 13(1)

Published: Jan. 20, 2025

Abstract Renal medullary carcinoma is a rare undifferentiated tumor of the kidney associated with sickle cell trait and characterized by INI1 (SMARCB1) loss. Although metastasis to lungs, lymph nodes, bone commonly reported, distant spread central nervous system almost never occurs. Here we present an unusual case patient renal brain following treatment which included tazemetostat, EZH2 inhibitor. The metastatic lesion harbored morphologic, immunohistochemical, methylation profile supportive primary CNS phenotype loss trimethylated lysine 27 residue histone 3 while maintaining specific gene fusion shared patient’s prior initiation tazemetostat therapy. Therefore, given common genetic signatures in tumor, this represents event glial transdifferentiation use epigenetic modulator. As has been known cleverly utilize adaptive mechanisms for survival, propose that such plasticity seen may have provoked drug alters signature cells. Thus, careful assessment biology novel therapeutic options must be performed order note unexpected consequences treatment.

Language: Английский

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