Complete Response to Chemotherapy in Metastatic Pancreatic Carcinoma Associated with Double Heterozygous Germline Mutation in BRCA2 and CHEK2 Genes - a Case Report
Language English Country Czech Republic Media print
Document type Case Reports, Journal Article
PubMed
32683879
DOI
10.14735/amko2020220
PII: 123023
Knihovny.cz E-resources
- Keywords
- BRCA2, CHEK2, DNA repair, chemotherapy, germline mutation, pancreatic cancer, remission,
- MeSH
- Adenocarcinoma * drug therapy genetics MeSH
- Checkpoint Kinase 2 * genetics MeSH
- Fluorouracil therapeutic use MeSH
- Genetic Predisposition to Disease MeSH
- Genes, BRCA2 MeSH
- Irinotecan therapeutic use MeSH
- Leucovorin therapeutic use MeSH
- Humans MeSH
- Pancreatic Neoplasms * drug therapy genetics MeSH
- Oxaliplatin therapeutic use MeSH
- BRCA2 Protein * genetics MeSH
- Antineoplastic Combined Chemotherapy Protocols therapeutic use MeSH
- Pedigree MeSH
- Germ-Line Mutation MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Checkpoint Kinase 2 * MeSH
- CHEK2 protein, human MeSH Browser
- Fluorouracil MeSH
- folfirinox MeSH Browser
- Irinotecan MeSH
- Leucovorin MeSH
- Oxaliplatin MeSH
- BRCA2 Protein * MeSH
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 dia-gnostic 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 9th 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.
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