Naviwala Mohammad Saad Salim, Samar Mirza Rameez, Shoaib Daania, Akbar Fizza, Idrees Romana, Rashid Yasmin Abdul
Department of Medical Oncology, Aga Khan University Hospital, Karachi 74800, Pakistan.
Department of Women and Child Health, Aga Khan University Hospital, Karachi 74800, Pakistan.
Ecancermedicalscience. 2024 Jul 16;18:1730. doi: 10.3332/ecancer.2024.1730. eCollection 2024.
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.
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.
SCCE arising in the context of known 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.
食管癌是全球第七大常见癌症。食管鳞状细胞癌（SCCE）是主要的亚型，与多种基因改变有关。随着下一代测序技术的兴起，越来越多由基因驱动的肿瘤通路被发现。
我们报告一例82岁男性患者，被诊断为累及颈部区域的SCCE。他接受了卡铂和紫杉醇同步放化疗。为追溯恶性肿瘤家族史，进行了基因检测，结果发现一个致病性BRCA1变异。
迄今为止，很少有已知突变背景下发生SCCE的报道。对于食管癌患者，尤其是在家族性肿瘤背景下，应考虑检测这些突变。
