Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Department of Ultrasound, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Diagn Pathol. 2021 Nov 20;16(1):108. doi: 10.1186/s13000-021-01165-5.
Mixed neuroendocrine-non-neuroendocrine neoplasms (MiNEN) of the pancreas are extremely rare. Their pathogenesis and molecular landscape are largely unknown. Here, we report a case of mixed pancreatic intraductal papillary mucinous neoplasm (IPMN) and well-differentiated neuroendocrine tumor (NET) and identify its genetic alterations by next-generation sequencing (NGS).
A fifty-year-old male was admitted into the hospital for evaluation of a pancreatic lesion detected during a routine examination. Abdominal ultrasound indicated a hypoechoic mass of 2.6 cm at the head of the pancreas. Malignancy was suspected and partial pancreatectomy was performed. Thorough histopathological examination revealed a mixed IPMN-NET. In some areas, the two components were relatively separated, whereas in other areas IPMN and NET grew in a composite pattern: The papillae were lined with epithelial cells of IPMN, and there were clusters of NET nests in the stroma of papillary axis. NGS revealed shared somatic mutations (KRAS, PCK1, MLL3) in both components. The patient has been uneventful 21 months after the surgery.
Our case provides evidence of a common origin for mixed IPMN-NET with composite growth features. Our result and literature review indicate that KRAS mutation might be a driver event underlying the occurrence of MiNEN. We also recommend the inclusion of mixed non-invasive exocrine neoplasms and neuroendocrine neoplasms into MiNEN.
胰腺混合性神经内分泌-非神经内分泌肿瘤（MiNEN）极为罕见。其发病机制和分子图谱在很大程度上尚不清楚。在此，我们报告一例胰腺混合性导管内乳头状黏液性肿瘤（IPMN）和分化良好的神经内分泌肿瘤（NET），并通过下一代测序（NGS）鉴定其遗传改变。
一名 50 岁男性因常规检查发现胰腺病变而入院评估。腹部超声提示胰腺头部有 2.6cm 的低回声肿块。怀疑为恶性肿瘤，并进行了胰头部分切除术。彻底的组织病理学检查显示为混合性 IPMN-NET。在某些区域，两种成分相对分离，而在其他区域 IPMN 和 NET 呈复合生长模式：乳头由 IPMN 的上皮细胞排列，在乳头轴的基质中有 NET 巢的簇集。NGS 显示两种成分均存在共享的体细胞突变（KRAS、PCK1、MLL3）。患者术后 21 个月无异常。
我们的病例为具有复合生长特征的混合性 IPMN-NET 提供了共同起源的证据。我们的结果和文献复习表明，KRAS 突变可能是 MiNEN 发生的驱动事件。我们还建议将混合性非侵袭性外分泌肿瘤和神经内分泌肿瘤纳入 MiNEN。
