Esophageal squamous cell carcinoma in a patient with BRCA1 mutation: A rare association

Authors

Saad Salim Naviwala, Aga Khan UniversityFollow
Mirza Rameez Samar, Aga Khan University
Daania Shoaib, Aga Khan UniversityFollow
Fizza Akbar, Aga Khan UniversityFollow
Romana Idress, Aga Khan UniversityFollow
Yasmin Abdul Rashid, Aga Khan UniversityFollow

Document Type

Case Report

Department

Haematology/Oncology; Women and Child Health; Pathology and Laboratory Medicine

Abstract

Background: Esophageal neoplasms rank as the 7th most common cancers in the world. Squamous cell carcinomas of esophagus (SCCE) are the predominant subset, linked to a number of genetic alterations. Gene-driven tumour pathways are being increasingly identified with the emerging role of next-generation sequencing.
Case presentation: We report a case of an 82-year-old male patient who was diagnosed with SCCE involving the cervical region. He received definitive concurrent chemoradiotherapy with Carboplatin and Paclitaxel. To trace the family history of malignancy, a genetic test was carried out which turned out to be a pathogenic BRCA1 variant.
Conclusion: SCCE arising in the context of known BRCA1 mutation has been rarely reported to date. Testing for these mutations should be considered in patients who present with esophageal cancer, especially in the backdrop of familial neoplasms.

Comments

Issue and pagination are not provided by the author/publisher.

Publication (Name of Journal)

Ecancermedicalscience

DOI

10.3332/ecancer.2024.1730

Recommended Citation

Naviwala, S. S., Samar, M. R., Shoaib, D., Akbar, F., Idress, R., Rashid, Y. A. (2024). Esophageal squamous cell carcinoma in a patient with BRCA1 mutation: A rare association. Ecancermedicalscience, 18.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_med_haematol_oncol/193