Yonamine Tomoko, Kaname Tadashi, Chinen Yasutsugu, Tamashiro Kouichi, Kosuge Noritake, Saito Seiichi
Department of Urology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan.
Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Urol Case Rep. 2020 Feb 26;30:101141. doi: 10.1016/j.eucr.2020.101141. eCollection 2020 May.
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomas, uterine leiomyomas, and/or renal cell cancer. We present the case of a 42-year-old woman with a heterozygous missense mutation (p.M195T) in the fumarate hydratase gene. Although the patient did not have cutaneous leiomyoma and she had no family history of hereditary leiomyomatosis and renal cell cancer, the presence of early onset symptomatic uterine leiomyoma and type 2 papillary renal cell cancer confirmed the diagnosis of hereditary leiomyomatosis and renal cell cancer.
遗传性平滑肌瘤病和肾细胞癌是一种由富马酸水合酶基因突变引起的罕见遗传性疾病。其特征为皮肤平滑肌瘤、子宫平滑肌瘤和/或肾细胞癌。我们报告一例42岁女性，其富马酸水合酶基因存在杂合错义突变（p.M195T）。尽管该患者没有皮肤平滑肌瘤，且没有遗传性平滑肌瘤病和肾细胞癌的家族史，但早期出现有症状的子宫平滑肌瘤和2型乳头状肾细胞癌确诊了遗传性平滑肌瘤病和肾细胞癌。
