Pancreatic involvement in Japanese patients with von Hippel-Lindau disease: results of a nationwide survey

The frequency and prognosis of pancreatic endocrine tumors (PNET)/pancreatic cystic tumors (PCT) in Japanese patients with von Hippel-Lindau disease (VHL) are still open to question. We conducted the first nationwide epidemiological study of VHL disease in Japan to elucidate this question. Data on 377 VHL patients (PNET, 53; PCT, 152) were reported, and then their clinical characteristics were analyzed. PNET was found in 14.1 % and PCT in 40.3 %; 4.5 % had both. The onset of PNET and PCT mostly occurred at 30-39 years of age (median ages, 34 and 33 years, respectively). Metastasis was observed in 7.5 % of PNET patients at diagnosis, and 64.2 % underwent surgery including enucleation, partial and total pancreatectomy, and bypass surgery. Two patients received non-surgical therapies. No PNET-related deaths were observed. In PCT patients, no metastasis was observed at diagnosis, and 9.2 % underwent surgery or drainage. According to the classification system without or with adrenal pheochromocytoma, the VHL patients studied herein were subdivided into 313 (83 %) with VHL type 1 and 64 (17 %) with VHL type 2; 29 (9.3 %) and 24 (37.5 %) patients had PNET with VHL type 1 and 2, suggesting that patients with VHL type 2 were significantly more related to PNET than those with VHL type 1 (P < 0.01). This study showed no significant difference in the epidemiology of pancreatic involvement between Japanese and non-Japanese VHL patients. Concerning the prognosis, follow-up study is needed.