Rectal Neuroendocrine Tumor in a Patient with CHEK2 Mutation

Authors

Shefali Khanna, Marshall University Joan C Edwards School of MedicineFollow
Deena Dahshan, Marshall University Joan C Edwards School of MedicineFollow
Erin Fankhanel, Marshall University Joan C. Edwards School of MedicineFollow
Doreen Griswold, Marshall University Joan C. Edwards School of MedicineFollow
Lynne J. Goebel, Marshall University Joan C Edwards School of MedicineFollow

Author Credentials

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Keywords

rectal carcinoid, CHEK2 mutation, rectal neuroendocrine tumor

Disciplines

Medicine and Health Sciences | Neoplasms

Abstract

We provide new information about CHEK2 mutation in association with a rectal neuroendocrine tumor (NET). A 67-year-old Caucasian woman diagnosed with estrogen receptor positive ductal carcinoma in situ breast cancer underwent genetic testing, revealing a CHEK2 mutation that prompted her to have a colonoscopy. This revealed a polyp with immunohistochemical staining positive for markers classically associated with NETs. Six-month follow up surveillance colonoscopy after initial polyp removal found no evidence of recurrence. While the CHEK2 mutation is known to be associated with adenocarcinomas, there is only one other reported case of its association with NETs.

Recommended Citation

Khanna S, Dahshan D, Fankhanel E, Griswold D, Goebel LJ. Rectal Neuroendocrine Tumor in a Patient with CHEK2 Mutation. Marshall J Med. 2020; 6(1): 9 DOI: https://doi.org/10.33470/2379-9536.1247.