Case report: Uterine leiomyoma with fumarate hydratase deficiency

被引：0

作者：

Buzinskiene, Diana ^{[1
,2
]}

Grinciute, Dominyka ^{[1
]}

Silkunas, Mindaugas ^{[1
,2
]}

Sidlovska, Evelina ^{[3
]}

机构：

[1] Vilnius Univ, Fac Med, Vilnius, Lithuania

[2] Vilnius Univ, Fac Med, Inst Clin Med, Clin Obstet & Gynecol, Vilnius, Lithuania

[3] Affiliate Vilnius Univ Hosp Santaros Klinikos, Natl Ctr Pathol, Vilnius, Lithuania

来源：

FRONTIERS IN MEDICINE | 2024年 / 11卷

关键词：

case report; hereditary leiomyomatosis and renal cell carcinoma; skin leiomyomatosis; uterine leiomyomatosis; fumarate hydratase; CANCER;

D O I：

10.3389/fmed.2024.1391978

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant disease caused by mutations in the fumarate hydratase gene. The syndrome is characterized by skin leiomyomatosis, uterine leiomyomatosis, and renal cell carcinoma. Herein, we report a case of fumarate hydratase deficient leiomyoma. The patient was a young female presenting with large uterine leiomyoma and multiple kidney angiomyolipomas. The report presents the chosen treatment and the challenges of differential diagnosis.

引用

页数：6

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