Molecular and Immunophenotypic Correlates of Metastatic Epithelioid Angiomyolipoma Include Alterations of TP53, RB1, and ATRX

• DOI: 10.5858/arpa.2022-0127-oa
• Publication Date: 2022-10-29T15:46:04Z
• Authors: Michael R. McCarthy; Paige E. Nichols; Vidit Sharma; Melissa L. Stanton; Jordan P. Reynolds; Beth A. Pitel; Kevin C. Halling; Christine M. Lohse; Loren Herrera-Her...; R. Houston Thompson; Bradley C. Leibovich; Rafael E. Jimenez; Stephen A. Boorjian; John C. Cheville; Sounak Gupta
• Keywords: ATRX

Epithelioid angiomyolipomas (eAMLs) are rare tumors of the kidney that occur in patients with tuberous sclerosis complex or a sporadic setting; subset these exhibit metastatic behavior.To analyze molecular profiling data to identify pathogenic alterations cases eAML, and immunohistochemistry (IHC)-based surrogate markers.Molecular from American Association for Cancer Research GENIE registry was accessed 23 angiomyolipomas, 9 16 eAMLs our institutional were evaluated next-generation sequencing. IHC performed screen P53, RB, ATRX all cases.Combined 5 tumor-suppressor genes (TP53, ATRX, RB1, APC, NF1) identified using sequencing 7 8 (88%) disease compared single patient nonmetastatic (RB1 variant uncertain significance; 1 24, 4%). No abnormal results 11 3 disease.Our show majority have mutations NF1), while disease. Furthermore, may serve as resource-limited settings. These findings, if validated larger sets, potential predict behavior eAMLs.