Complete Response to Chemotherapy in Metastatic Pancreatic Carcinoma Associated with Double Heterozygous Germline Mutation in BRCA2 and CHEK2 Genes - a Case Report
Jazyk angličtina Země Česko Médium print
Typ dokumentu kazuistiky, časopisecké články
PubMed
32683879
DOI
10.14735/amko2020220
PII: 123023
Knihovny.cz E-zdroje
- Klíčová slova
- BRCA2, CHEK2, DNA repair, chemotherapy, germline mutation, pancreatic cancer, remission,
- MeSH
- adenokarcinom * farmakoterapie genetika MeSH
- checkpoint kinasa 2 * genetika MeSH
- fluoruracil terapeutické užití MeSH
- genetická predispozice k nemoci MeSH
- geny BRCA2 MeSH
- irinotekan terapeutické užití MeSH
- leukovorin terapeutické užití MeSH
- lidé MeSH
- nádory slinivky břišní * farmakoterapie genetika MeSH
- oxaliplatin terapeutické užití MeSH
- protein BRCA2 * genetika MeSH
- protokoly protinádorové kombinované chemoterapie terapeutické užití MeSH
- rodokmen MeSH
- zárodečné mutace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- checkpoint kinasa 2 * MeSH
- CHEK2 protein, human MeSH Prohlížeč
- fluoruracil MeSH
- folfirinox MeSH Prohlížeč
- irinotekan MeSH
- leukovorin MeSH
- oxaliplatin MeSH
- protein BRCA2 * 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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