Division of Endocrinology, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Department of Pathology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
Front Endocrinol (Lausanne). 2023 Feb 27;14:1095815. doi: 10.3389/fendo.2023.1095815. eCollection 2023.
Splanchnic vein thrombosis due to co-existing metastatic pancreatic neuroendocrine tumour (pNET) and JAK2V617F mutation is a rare condition.
Here we present a case of a young woman with complete remission of a non-functioning grade 2 pNET with unresectable liver metastases, coexisting with JAK2V617F mutation. Splenectomy and distal pancreatectomy were performed. Neither surgical removal, nor radiofrequency ablation of the liver metastases was possible. Therefore, somatostatin analogue (SSA) and enoxaparine were started. Peptide receptor radionuclide therapy (PRRT) was given in 3 cycles 6-8 weeks apart. Genetic testing revealed no multiple endocrine neoplasia type 1 (MEN-1) gene mutations. After shared decision making with the patient, she gave birth to two healthy children, currently 2 and 4 years old. On pregnancy confirmation, SSA treatment was interrupted and resumed after each delivery. Ten years after the diagnosis of pNET, no tumour is detectable by MRI or somatostatin receptor scintigraphy. PRRT followed by continuous SSA therapy, interrupted only during pregnancies, resulted in complete remission and enabled the patient to complete two successful pregnancies.
合并转移性胰腺神经内分泌肿瘤（pNET）和 JAK2V617F 突变的内脏静脉血栓形成是一种罕见情况。
在此，我们报告了一例年轻女性的病例，其无功能性 2 级 pNET 完全缓解，伴不可切除的肝转移，合并 JAK2V617F 突变。进行了脾切除术和胰体尾切除术。肝转移既不能手术切除，也不能射频消融。因此，开始使用生长抑素类似物（SSA）和依诺肝素。每隔 6-8 周进行 3 个周期的肽受体放射性核素治疗（PRRT）。基因检测未发现多发性内分泌肿瘤 1 型（MEN-1）基因突变。与患者共同决策后，她生下了两个健康的孩子，目前分别为 2 岁和 4 岁。在妊娠确认后，中断了 SSA 治疗，每次分娩后恢复。在诊断为 pNET 后的 10 年，MRI 或生长抑素受体闪烁显像均未检测到肿瘤。PRRT 后连续使用 SSA 治疗，仅在妊娠期间中断，导致完全缓解，并使患者成功完成了两次妊娠。
