Furmarate hydratase-deficient uterine leiomyomas:a clinicopathological analysis
YUAN Yuan
LIAN Zhenying
DONG Gehong
XIANG Longquan
Abstract：Objective To investigate the clinicopathological features,immunophenotypic characteristics,differential diagnosis,and biological behavior of fumarate hydratase-deficient(FH-d)uterine leiomyomas.Methods The specimens of 11 cases diagnosed as FH-d uterine leiomyomas in Jining No.1 People's Hospital and Beijing Tiantan Hospital were collected from 2021 to 2025.Immunohistochemical EnVision method was used to detect the expression of FH,2SC,Desmin,SMA,and Ki-67.The Histopathological features and immunophenotypes of the 11 cases were analyzed,and the relevant literatures were reviewed.Results The age of the patients ranged from 33 to 54 years(the median age was 45 years).The multiple leiomyomas accounted for 7 cases(7/11).The maximum tumor diameter ranged from 2.2 to 11 centimeters,with an average of 6.72 centimeters.Histopathological features revealed hemangiopericytomatoid structures(11/11),eosinophilic cytoplasmic inclusions(11/11),eosinophilic nucleoli with perinuclear halos(8/11),bizarre nuclei(8/11),alveolar-pattern edema(7/11)and chain-like distribution of ovoid nuclei(6/11).No neoplastic necrosis was shown in any case,and the mitotic figures was less than 5/10HPF in all cases.Immunophenotypically,the expression of FH in tumor tissues was negative in all cases,and 2SC was diffuse granular positivity in the cytoplasm in 10 cases.Meanwhile,all 11 cases exhibited the characteristic expression pattern of desmin,which clearly highlighted the eosinophilic cytoplasmic inclusions,whereas the remaining cytoplasm showed weak positivity or negativity.The Ki-67 proliferation index was5％-8％.No postoperative recurrent was observed in this cohort.Conclusions The accurate diagnosis of FH-d uterine leiomyomas is based on special morphological manifestations and auxiliary immunohistochemical findings.Additionally,FH gene testing should be mentioned in the pathological diagnosis report as important clues for hereditary leiomyomatosis and renal cell carcinoma syndrome.
Keywords：Fumarate hydrataseFH-d uterine leiomyomaS-(2-succino)-cysteineClinicopathology
Publication Date：2025-09-28
Online Publishing Date：2025-11-13(First online date of this platform, not the publication date of the document)
Pages：5( 1080-1084 )