Adenosquamous Carcinoma of the Pancreas in a Patient with BRCA2 Mutation: A Case Report

BRCA2基因突变患者胰腺腺鳞癌:病例报告

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Abstract

Background: Pancreatic adenosquamous carcinoma (ASC) is an uncommon subtype of pancreatic neoplasm, representing 1-4% of all pancreatic cancers. Given the rarity of this tumor, there is no well-established standard of care regarding treatment. We present the case of a BRCA2-deficient patient who responded tremendously well to a combination of gemcitabine and cisplatin therapy. Case presentation: A 66-year-old Caucasian man presented with a 2-week duration of progressively worsening clay-colored stools, tea-colored urine, and jaundice. Computed tomography scan of the abdomen revealed a 4-cm mass at the head of the pancreas. Preoperative carbohydrate antigen (CA) 19-9 was 255 U/mL (normal <37 U/mL). The patient underwent an uncomplicated pylorus-preserving pancreaticoduodenectomy with pathology revealing 11/12 positive lymph nodes, positive resection margins, perineural invasion, lymphovascular invasion, and positive disease in two distant perihepatic lymph nodes. The patient received one cycle of combination of gemcitabine and abraxane, was subsequently found to be BRCA2 deficient, and completed five cycles of gemcitabine and cisplatin thereafter. CA 19-9 before chemotherapy was 203 U/mL. Postchemotherapy CA 19-9 was 13 U/mL. As of today, the patient continues to do well 22 months postresection without radiographical or gross evidence of disease. Conclusion: Gemcitabine in combination with a platinum agent shows promise in the treatment of pancreatic ASC, particularly in setting of BRCA2 deficiency.

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