Clinicopathologic analysis of fumarate hydratase deficient uterine leiomyoma
Objective To investigate the clinicopathological,histopathological,immunohistochemical,diagnosis and differential diagnosis of fumarate hydratase(FH)deficient uterine leiomyoma.Method 66 cases of FH deficient uterine leiomyoma diagnosed in Beijing Gynecology and Gynecology Hospital of Capital Medical University from January 2019 to September 2023 were collected.Relevant data of the patients were collected.Immunohistochemical detection of FH and S-(2-succino)-cysteine(2SC)were performed in all cases.At the same time,the clinical characteristics,morphology,immunohistochemistry and other characteristics were analyzed and studied.At the same time,the literature of FH deficient uterine leiomyoma reported at home and abroad was reviewed and studied.Result The age of 66 patients was 25-60 years old,the median age was 38 years old.Methods of operation:40 cases of myomectomy,12 cases of myomectomy,14 cases of total hysterectomy.65.2%(43/66)were multiple tumors with a maximum diameter of 0.7-9.5 cm.Under microscope,antler blood vessels(64 cases),pseudoacinoid interstitial edema(60 cases),with strange nuclei(58 cases),cytoplasmic deposits of eosinophilic round hyaloid glomeruli(65 cases),and the eosinophilic nucleoli and surrounding halos(64 cases)were observed,only 1 case showed hemangiopericytoma-like structure.The number of mitotic images(0-6)was 10HPF,but one of them was uterine leiomyosarcoma of FH deficient leiomyoma with 11 mitotic images per 10HPF.General view:Most of the sections are gray-white matter tough,some sections are grayish yellow,and some sections have a gelatinous feeling.Immunohistochemical phenotype:FH expression was missing in 66 tumors,and 2SC expression was strongly positive in 59 tumors(7 cases were consultation cases,and immunohistochemical 2SC was not added).Molecular detection results:15 of them underwent molecular detection,4 cases showed system mutation,1 case showed germ line mutation.Follow-up:All patients survived.Conclusion FH deficient uterine leiomyoma often has unique histological morphology,but for cases with atypical morphology,the combination of FH and 2SC immune indicators can help to improve the diagnosis rate of the disease,and clinical characteristics and FH gene mutation detection should be combined when necessary.
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