Öberg Kjell
Department of Medical Sciences, Endocrine Oncology, Uppsala University Hospital, Uppsala, Sweden.
Gland Surg. 2018 Feb;7(1):20-27. doi: 10.21037/gs.2017.10.08.
Pancreatic neuroendocrine tumors (pNETs) constitute a heterogenous group of malignancies with varying clinical presentation, tumor biology and prognosis. The incidence of pNETs has steadily increased during the last decades with an estimated incidence 2012 of 4.8/100,000. Recent whole genome sequencing of pNETs has demonstrated mutations in the DNA repair genes MUTYH and point mutations and gene fusions in four main pathways from chromatin remodeling, DNA damage repair, activation of mechanistic target of rapamycin (mTOR) signaling and the telomere maintenance. This new information will be the foundation for new therapies in the near future for malignant pNETs. The functioning pNETs constitute about 30-40% of all pNETs displaying nine different clinical syndromes: insulinoma, Zollinger-Ellison, Verner-Morrison, glucagonoma, somatostatinomas, ectopic adrenocorticotropic hormone (ACTH) and parathyroid hormone related peptide (PTH-rP) syndromes. Single patients might also present carcinoid syndrome. The diagnostic work-up include histopathology with the new WHO 2017 Classification, biomarkers (CgA, NSE), radiology and molecular imaging including CT-scan, magnetic resonance imaging (MRI), ultrasound and PET-scan. A cornerstone in the treatment of pNETs is surgery which is rarely curative but can reduce the clinical symptoms by debulking which also include radiofrequency ablation, embolization of liver metastases. Medical treatment includes chemotherapy and the targeted agents such as everolimus, sunitinib and peptide receptor radiotherapy (PRRT). Somatostatin analogs has for the last decades been the main stay for management for clinical symptoms related to functioning pNETs and is often combined with new targeted agents as well as chemotherapy. Long-term management of functioning pNETs need a combination of different procedures, surgery, local ablation, targeted agents and somatostatin analogs. Future therapies might be based on the recent advances in molecular genetics and tumor biology.
胰腺神经内分泌肿瘤(pNETs)是一组异质性恶性肿瘤,临床表现、肿瘤生物学特性及预后各不相同。在过去几十年中,pNETs的发病率稳步上升,2012年估计发病率为4.8/10万。最近对pNETs的全基因组测序显示,DNA修复基因MUTYH发生突变,并且在染色质重塑、DNA损伤修复、雷帕霉素机制性靶标(mTOR)信号激活和端粒维持这四条主要途径中存在点突变和基因融合。这些新信息将成为近期恶性pNETs新疗法的基础。功能性pNETs约占所有pNETs的30%-40%,表现出九种不同的临床综合征:胰岛素瘤、卓-艾综合征、韦尔纳-莫里森综合征、胰高血糖素瘤、生长抑素瘤、异位促肾上腺皮质激素(ACTH)和甲状旁腺激素相关肽(PTH-rP)综合征。个别患者也可能出现类癌综合征。诊断检查包括采用世界卫生组织2017年新分类标准的组织病理学检查、生物标志物(嗜铬粒蛋白A、神经元特异性烯醇化酶)、放射学检查以及分子成像,包括CT扫描、磁共振成像(MRI)、超声检查和PET扫描。pNETs治疗的基石是手术,手术很少能治愈,但可以通过减瘤来减轻临床症状,减瘤还包括射频消融、肝转移瘤栓塞。药物治疗包括化疗以及依维莫司、舒尼替尼等靶向药物和肽受体放射性核素治疗(PRRT)。在过去几十年中,生长抑素类似物一直是治疗与功能性pNETs相关临床症状的主要药物,并且常与新的靶向药物以及化疗联合使用。功能性pNETs的长期管理需要综合运用不同的治疗手段,如手术、局部消融、靶向药物和生长抑素类似物。未来的治疗可能基于分子遗传学和肿瘤生物学的最新进展。