Uterine leiomyoma with fumarate hydratase deficiency:a clinicopathological study of six cases
WANG Qin
ZHANG He-ping
ZHAO Cai-xia
TANG Man
CHEN Yong
XU Hong-liang
ZHANG Wei-qin
Abstract：Objective To investigate the clinicopathological features,diagnosis,differential diagnosis,treatment and prognosis of uterine leiomyoma with fumarate hydratase(FH)deficiency.Methods The clinical data were collected in 6 cases of uterine leiomyoma with FH deficiency.The features of clinicopathology and immunohistochemistry were analyzed,and the literatures were reviewed.Results All the 6 patients were young females,aged from 31 to 39 years,with a median age of 37 years.Among them,3 cases had multiple leiomyomas in the uterine.All the tumors were located in the uterine muscle wall,nodular,with clear boundaries.Fumarate hydratase-deficient leiomyoma showed tumor cells with mild atypia,staghorn vasculature,alveolar-pattern oedema,scattered bizarre nuclei,eosinophilic cytoplasmic(rhabdoid)inclusions,and prominent eosinophilic nucleoli surrounded by perinucleolar haloes.Immunohistochemically,the tumor cells did not express FH.Conclusion Fumarate hydratase-deficient leiomyomas are rare,the histological morphology is varied.The diagnosis should be made by combining the history of past illness and immunohistochemical result.Genetic testing for FH should be recommend.
Keywords：Fumarate hydrataseHereditary leiomyomatosis renal cell cancerLeiomyoma with bizarre nucleiUsual leiomyomaImmunohistochemical staining
Publication Date：2023-08-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 767-770 )