Orsini-Arman Anna Carolina, Santana Rodolfo Carvalho, do Amaral Paulo César Galvão, Kemp Rafael, Dos Santos José Sebastião, Ardengh Jose C
Medical Oncology, Pontificia Universidade Católica de Campinas, Campinas, BRA.
Surgical Gastroenterology, Aliança Hospital/Rede D'Or Hospital Group, Salvador, BRA.
Cureus. 2025 Aug 7;17(8):e89564. doi: 10.7759/cureus.89564. eCollection 2025 Aug.
The Von Hippel-Lindau disease (VHL) is an autosomal dominant condition characterized by multiple cystic tumors in several organs, including the pancreas. The symptoms are variable, and suspicion must be raised with typical lesions, such as a hemangioblastoma of the central nervous system (CNS) or retina, associated with a renal cell carcinoma, a pheochromocytoma or multiple pancreatic cysts, besides neuroendocrine tumors (NET). The diagnosis in a patient without a family history should be suspected in case of a hemangioblastoma of the CNS and/or retina, which could also be associated with other lesions, such as pancreatic cysts and NETs. The mixed serous-neuroendocrine neoplasia (MSNN) is a combination of serous cyst neoplasia (SCN) and pancreatic-neuroendocrine tumors (p-NET). There are only a few reports in the literature of this type of neoplasia and the majority are associated with VHL. Based on the distribution pattern of SCN and of p-NETs, it is classified into four subtypes: diffuse, mixed, solitary and coalition. This is an unprecedented report of two cases of VHL, evaluated by endoscopic ultrasound-guided fine needle biopsy (EUS-FNB), which allowed the identification and diagnosis and determined the follow-up of these patients using microhistology (McH) and allowed the differentiation of MSNN, mixed tumors and solitary tumors.
冯·希佩尔-林道病(VHL)是一种常染色体显性遗传病,其特征是在包括胰腺在内的多个器官中出现多发性囊性肿瘤。症状因人而异,对于出现典型病变的患者必须提高警惕,这些典型病变包括中枢神经系统(CNS)或视网膜的成血管细胞瘤,同时伴有肾细胞癌、嗜铬细胞瘤或多个胰腺囊肿,以及神经内分泌肿瘤(NET)。对于无家族病史的患者,若出现CNS和/或视网膜的成血管细胞瘤,也应怀疑患有该病,此类情况还可能与其他病变有关,如胰腺囊肿和NET。混合性浆液性-神经内分泌肿瘤(MSNN)是浆液性囊性肿瘤(SCN)和胰腺神经内分泌肿瘤(p-NET)的组合。关于这种类型肿瘤的文献报道较少,且大多数与VHL相关。根据SCN和p-NET的分布模式,它可分为四种亚型:弥漫型、混合型、孤立型和联合型。本文史无前例地报道了两例通过内镜超声引导下细针穿刺活检(EUS-FNB)评估的VHL病例,该方法能够实现识别和诊断,并通过微组织学(McH)确定这些患者的后续治疗,还能区分MSNN、混合性肿瘤和孤立性肿瘤。