Colonic Tubular Adenoma with Clear Cell Change: Case Report with Whole-Exome Sequencing and Updated Review of the Literature.

ABSTRACT:

Introduction

Colorectal tubular adenomas displaying clear cell change are rare entities, with unknown clinical relevance, prognosis, immunohistochemical, and molecular features.

Case presentation

Hereby we report a case of a 43-year-old female patient with a rectosigmoid polyp. Histologically, conventional dysplasia was visible with scattered areas displaying clear cell change. Whole-exome sequencing (WES) was carried out and revealed high tumour mutation burden and 7 pathogenic mutations, including TP53, APC, FGFR4, EHBP1, IL4R, TYR, and ACTN3.

Conclusion

Clear cell change may only be present in less than 0.1% of adenomas. Aetiology is not well understood; additionally, few authors suggest autolysis or fixation problems. Our WES resulted in newly found pathogenic mut

SUBMITTER: Ferenczi A 

PROVIDER: S-EPMC11449193 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature