Bilateral fumarate hydratase deficient renal cell carcinoma in a patient with hereditary leiomyomatosis and renal cell cancer syndrome

被引：0

作者：

Ono, Akihiro ^{[1
]}

Nakamura, Masaki ^{[1
,7
]}

Takada, Takuya ^{[2
]}

Miura, Sakiko ^{[2
]}

Tsuru, Ibuki ^{[1
]}

Izumi, Taro ^{[1
]}

Kusakabe, Masashi ^{[3
]}

Mitarai, Sachiko ^{[4
]}

Nagashima, Yoji ^{[5
]}

Kume, Haruki ^{[6
]}

Morikawa, Teppei ^{[2
]}

Shiga, Yoshiyuki ^{[1
]}

机构：

[1] NTT Med Ctr Tokyo, Dept Urol, Tokyo, Japan

[2] NTT Med Ctr Tokyo, Dept Diagnost Pathol, Tokyo, Japan

[3] NTT Med Ctr Tokyo, Dept Radiol, Tokyo, Japan

[4] NTT Med Ctr Tokyo, Dept Nursing, Tokyo, Japan

[5] Tokyo Womens Med Univ, Dept Surg Pathol, Tokyo, Japan

[6] Univ Tokyo, Grad Sch Med, Dept Urol, Tokyo, Japan

[7] 5-9-22 Higashigotanda,Shinagawa Ku, Tokyo 1418625, Japan

来源：

IJU CASE REPORTS | 2024年 / 7卷 / 02期

关键词：

fumarate hydratase; hereditary leiomyomatosis and cancer; nephrectomy; renal cell; renal cell carcinoma; MUTATIONS; SPECTRUM;

D O I：

10.1002/iju5.12688

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

IntroductionPatients with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome have high risks of uterine and cutaneous leiomyomas and renal cell carcinoma (RCC), which are caused by germline mutation of the fumarate hydratase (FH) gene. RCC lesions are mostly high-grade tumors with a poor prognosis.Case presentationA 37-year-old man who had previously undergone treatment for a left RCC was referred to our hospital with a diagnosis of right RCC. Robot-assisted partial nephrectomy was performed, and the pathological diagnosis revealed fumarate hydratase (FH)-deficient RCC. The left RCC, which was originally diagnosed as mucinous tubular and spindle cell carcinoma, was reviewed and diagnosed as FH-deficient RCC. The patient's father and uncle both died of RCC, and the father's tumor was also immunohistochemically proven to be FH-deficient RCC.ConclusionHLRCC-related RCC should be considered in a differential diagnosis of young patients with a family history of RCC.

引用

页码：144 / 147

页数：4

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