Complete Response to Chemotherapy in Metastatic Pancreatic Carcinoma Associated with Double Heterozygous Germline Mutation in BRCA2 and CHEK2 Genes – a Case Report

Česká verzia

Authors: Natália Pazderová ¹; Veronika Urbán ²; Marek Makovník ³; Dušan Macák ⁴; Pavol Janega ⁵; Michal Chovanec ¹; Katarína Rejleková ¹; Jozef Mardiak ¹; Michal Mego ¹
Authors place of work: II. onkologická klinika LF UK a NOÚ Bratislava, Slovenská republika ¹; Oddelenie lekárskej genetiky, NOÚ Bratislava, Slovenská republika ²; Rádiologické oddelenie, NOÚ Bratislava, Slovenská republika ³; Oddelenie patologickej anatómie, NOÚ Bratislava, Slovenská republika ⁴; Ústav patologickej anatómie, LF UK Bratislava, Slovenská republika ⁵
Published in the journal: Klin Onkol 2020; 33(3): 220-225
Category: Case Report
doi: https://doi.org/10.14735/amko2020220

Summary

Background: Metastatic pancreatic carcinoma is an aggressive disease with adverse prognosis. Despite slight advances in chemotherapy, complete remission of the disease is extremely rare.

Case: In this article we present a case of a patient with initially metastatic pancreatic adenocarcinoma, associated with double heterozygous germline mutation in BRCA2 and CHEK2 genes, with the description of clinical, radiological and histomorphological characteristics of the disease as well as the diagnostic and therapeutic procedure.

Results: The patient with initially metastatic pancreatic adenocarcinoma with multiple liver involvement achieved complete remission following first-line FOLFIRINOX chemotherapy. The treatment lasted for 12 months but due to increased neurotoxicity since the 9^th cycle, oxaliplatin was excluded from the regimen. Given the family history of several malignancies (prostate cancer, seminoma), genetic testing was performed, which confirmed heterozygous germline mutations in BRCA2 and CHEK2 genes. Since the treatment has been completed, the patient remains in complete remission at 30 months.

Conclusion: Given the low incidence of complete remissions in patients with metastatic pancreatic cancer, the further therapeutic approach is not clearly established, an individual treatment is important. Universal genetic testing is recommended in patients with pancreatic cancer as it may affect the treatment strategy.

Keywords:

Chemotherapy – BRCA2 – CHEK2 – Pancreatic cancer – germline mutation – remission – DNA repair

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