Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report

María Isabel Castillo; Erick Freire; Vanessa I. Romero; Benjamín Arias-Almeida; Carlos Reyes; Kazuyoshi Hosomichi

doi:10.3389/fonc.2022.899579

Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report

Journal

Frontiers in Oncology

ISSN

2234-943X

Date Issued

2022-06-02

Author(s)

María Isabel Castillo

Erick Freire

Vanessa I. Romero

Benjamín Arias-Almeida

Facultad de Ciencias de la Salud Eugenio Espejo

Carlos Reyes

Kazuyoshi Hosomichi

DOI

10.3389/fonc.2022.899579

URL

https://cris.ute.edu.ec/handle/123456789/517

Abstract

Multiple non-related neoplasia does not have an established approach or benefits for performing whole-exome sequencing (WES) analysis. We report on a 46-year-old woman who developed astrocytoma, thyroid, and breast cancer within 10 years. The WES analysis found a novel missense variant in the ACSL6 gene, and the protein modeling showed altered secondary and tertiary structures, which modify the binding to cofactors and substrates. ACSL6 is involved in lipid metabolism, expressed in the brain, thyroid, and breast tissues, and is associated with diverse types of cancer. Our study demonstrates the benefit of WES analysis compared with commercial panels in patients with non-related neoplasia.