Von Hippel-Lindau disease associated with renal cell carcinoma and bilateral cystadenoma of the epididymis: a case report

症例は26歳男で, 7年前にvon Hippel-Lindau(VHL)病に合併した骨髄・小脳血管芽腫及び側頭骨乳頭腫に対して摘出術を受け, 以後外来通院していたが, 両側陰嚢内の無痛性腫瘤を触知した.超音波で両側精巣上体に内部不均一な多房性腫瘤を認めると共に, 膵頭部及び両腎に数個の嚢胞を, 右腎外側に径3cmの内部均一な充実性腫瘍を認めた.MRIでは右腎腫瘍はT1強調像でlow, T2強調像でhigh intensityを呈し, 造影効果は認めなかった.摘出術において, 右腎腫瘍は右腎中央に存在し, 2.5×2.5×2cm, 割面黄色で, 白色の線維性被膜でよく被包されていた.両側精巣上体頭部腫瘍は, 右1×3×1cm, 左1×2×1cmで, 腺構造が密に存在し, ところどころで内腔に向かって核異型のない上皮の乳頭状増殖を認めた.またVHL遺伝子の検査を行ったところ, exon 2 351にGからAへの点突然変異を認めた.術後経過は良好で再発はない
We present a case report of von Hippel-Lindau disease associated with renal cell carcinoma and bilateral cystadenoma of the epididymis. A 26-year-old man appeared with painless tumors of the bilateral scrotal contents. Ultrasonography and other radiographic examinations including computed tomographic scan and dripinfusion pyelography showed multiocular tumors in the bilateral epididymis and a right renal tumor 3 cm in diameter. The tumors of the bilateral epididymis were surgically resected and of the right renal tumor enucleated. Histopathological examination revealed cystadenoma of the epididymis and renal cell carcinoma (clear cell carcinoma, G1, pT1a). He has not received adjuvant therapy, and is doing well with no evidence of metastatic disease 2 years after surgery.