Abstract：
BACKGROUND: Metastatic pancreatic carcinoma is an aggressive disease with adverse prognosis. Despite slight advances in chemotherapy, complete remission of the disease is extremely rare.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：转移性胰腺癌是一种侵袭性疾病，预后不良。尽管化疗略有进展，完全缓解的疾病极为罕见。
方法：在本文中，我们介绍了一例最初患有转移性胰腺腺癌的患者，与BRCA2和CHEK2基因的双杂合子种系突变相关，根据临床的描述，该疾病的放射学和组织形态学特征以及诊断和治疗程序。
结果：初次转移性胰腺腺癌伴多个肝脏受累的患者在一线FOLFIRINOX化疗后完全缓解。治疗持续12个月，但由于自第9个周期以来神经毒性增加，奥沙利铂被排除在治疗方案之外.鉴于几种恶性肿瘤的家族史（前列腺癌，精原细胞瘤)，进行了基因检测，这证实了BRCA2和CHEK2基因中的杂合种系突变。既然治疗已经完成,患者在30个月时仍处于完全缓解状态.
结论：鉴于转移性胰腺癌患者完全缓解的发生率较低，进一步的治疗方法尚未明确确立，个人治疗很重要。建议在胰腺癌患者中进行通用基因检测，因为它可能会影响治疗策略。
方法：在本文中，我们介绍了一例最初患有转移性胰腺腺癌的患者，与BRCA2和CHEK2基因的双杂合子种系突变相关，根据临床的描述，该疾病的放射学和组织形态学特征以及诊断和治疗程序。
结果：初次转移性胰腺腺癌伴多个肝脏受累的患者在一线FOLFIRINOX化疗后完全缓解。治疗持续12个月，但由于自第9个周期以来神经毒性增加，奥沙利铂被排除在治疗方案之外.鉴于几种恶性肿瘤的家族史（前列腺癌，精原细胞瘤)，进行了基因检测，这证实了BRCA2和CHEK2基因中的杂合种系突变。既然治疗已经完成,患者在30个月时仍处于完全缓解状态.
结论：鉴于转移性胰腺癌患者完全缓解的发生率较低，进一步的治疗方法尚未明确确立，个人治疗很重要。建议在胰腺癌患者中进行通用基因检测，因为它可能会影响治疗策略。
