Research progress on fumarate hydratase-deficient unterine leiomyoma

Abstract

Fumarate hydratase （FH）-deficient uterine leiomyoma is a rare pathological type of uterine leiomyoma, which is caused by FH gene germ-line or system mutations, primarily the latter cause. Although this disease is rare, when it is a sentinel manifestation of hereditary leiomyomatosis and renal cell carcinoma （HLRCC） syndromes, its severe symptoms and signs lead to early surgery and post-operative pathology that offers the possibility of early diagnosis of the aggressive consequences of this hereditary disease. Systematic diagnosis is the main diagnostic methods. Morphological and immunohistochemical staining are helpful to improve the detection rate, whereas their values are limited. Although the biological potential of FH-deficient uterine leiomyoma is low, the treatment and prognosis of patients significantly vary due to different sources of mutations. Therefore, how to distinguish sporadic and hereditary uterine fibroids is a great challenge for clinicians. In this article, clinical manifestations, morphological features, diagnosis and differential diagnosis, treatment and prognosis of FH-deficient uterine leiomyoma were reviewed.

Keywords

• |uterine leiomyoma|fumarate hydratase|hereditary leiomyomatosis and renal cell carcinoma|gene mutation|differential diagnosis