Neurothekeoma With PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M Genetic Alterations

Authors

Mahatma Ortega, Department of Pathology, Veterans Affairs Medical Center, Washington, DC.
Jessica Sparks, University of Louisville School of Medicine, Louisville, KY; and.
Victor E. Nava, Department of Pathology, Veterans Affairs Medical Center, Washington, DC.
Shane D. Smith, Department of Pathology, The George Washington University, Washington, DC.

Document Type

Journal Article

Publication Date

9-7-2022

Journal

The American Journal of dermatopathology

DOI

10.1097/DAD.0000000000002292

Abstract

Neurothekeoma, a lesion of possible fibrohistiocytic origin, is a rare, benign, superficial soft tissue tumor, histologically subclassified in 3 types: myxoid, cellular, or mixed. It clinically presents as a solitary, pink to brown nodule, ranging from 0.3 to 2.0 cm. Four point mutations (PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M) were identified by next-generation sequencing of a neurothekeoma presenting in the left inner thigh of a 53-year-old man. We highlight novel genetic alterations (SMO G461S and ERBB3 L77M) and previously known mutations (PI3KCA w552* and ALK P1469S) that play a role in other pathogenic pathways, but to the best of our knowledge, these have not yet been reported in neurothekeoma.

APA Citation

Ortega, Mahatma; Sparks, Jessica; Nava, Victor E.; and Smith, Shane D., "Neurothekeoma With PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M Genetic Alterations" (2022). GW Authored Works. Paper 1652.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/1652

Department

Pathology