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Case Reports
. 2021 Jan 25:5:5.
doi: 10.21037/acr-20-83. eCollection 2021.

CHEK2 mutation in a patient with pancreatic adenocarcinoma-a rare case report

Anusha Vittal  1 , Debbie Saha  2 , Ipsita Samanta  2 , Anup Kasi  2
Affiliations
Case Reports

CHEK2 mutation in a patient with pancreatic adenocarcinoma-a rare case report

Anusha Vittal et al. AME Case Rep. .

Abstract

Pancreatic cancer (PaCa) is very aggressive malignancy with poor prognosis. Individuals with a family history of PaCa have a higher risk of developing cancer which points to a hereditary component. Here, we report a unique case of CHEK2 mutant PaCa in a patient with no medical but significant family history. A 59-year old female presented with 3-month history of worsening epigastric pain and jaundice. CT abdomen/pelvis with contrast showed pancreatic head mass which was confirmed by endoscopic ultrasound guided biopsy. She was diagnosed with pancreatic adenocarcinoma harboring CHEK2 mutation. She had extensive surgery followed by adjuvant chemotherapy. Follow up imaging in 3 months obtained after surgery and adjuvant chemotherapy showed extensive liver metastasis and patient decided to pursue hospice. Germline testing in all PaCa patients has become essential as mutations in CHEK2 and other DNA repair genes constitute a unique subset of PaCas. Not only does it help in assessment of cancer risk in the individual and family members but also guide anticancer therapy selection. PaCa patients harboring CHEK2 mutations do not usually respond to chemotherapeutic agents such as gemcitabine. However, new treatment strategies such as PARP inhibitors targeting defective DNA repair mechanism are currently being investigated and showed some promise in treating CHEK2 mutant PaCa patients.

Keywords: CHEK 2; PARP inhibitor; Pancreatic cancer (PaCa).

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Conflict of interest statement

Conflicts of Interest: All authors have completed the ICJME uniform disclosure form (available at http://dx.doi.org/10.21037/acr-20-83). The authors have no conflicts of interests to declare.

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