延胡索酸水合酶缺陷型子宫平滑肌瘤19例临床与病理分析OACSTPCD

Objective:To investigate the clinical,histological,immunophenotypic and molecular characteristics of fumarate hydratase-deficient uterine leiomyomas(FH-DUL),and to analyze the risk factors associated with recurrence.Methods:19 cases of FH-DUL were includ-ed in this study from November 2019 to April 2023.Clinical and histological features and immu-nohistochemical phenotypes were retrospectively analyzed,and 1 case was detected by high-throughput second-generation sequencing(NGS).Results:The age of the 19 FH-DUL patients was38.6±8.2 years old.5(26.3%)cases had clinical symptoms,such as increased menstrual flow,lower abdominal mass,and dysmenorrhea,while the other 14(73.7%)were found by physical examination.11 cases(57.9%)had multiple fibroids(≥2),and 8 cases(42.1%)had single fibroids with a maximum diameter of 4～13cm.One case(5.3%)was diagnosed as submucosal leiomyoma,13 cases(68.4%)as intramural leiomyoma,and 5 cases(26.3%)as subserosal leiomyoma.Six cases(31.8%)had a family history of uterine leiomyoma in first-de-gree relatives.13 cases(68.4%)underwent laparoscopic myomectomy,and 6 cases(31.6%)underwent laparoscopic total hysterectomy.Under low power view,thin-walled staghorn vessels were observed in19 cases(100%).Significant cellular were seen in13 cases(68.4%),and focal alveolar-like edematous stroma was seen in11 cases(57.9%).Under high power,bizarre nuclei were seen in 11 cases(57.9%),eosinophilic glomerular deposition in the cytoplasm were found in 12 cases(63.2%),and in 8 cases(42.1%),significant eosinophilic large nu-cleoli and perinucleolar halos were observed,with nuclear division<5/HPF,and no obvious tumor coagulated necrosis.The immunohistochemical staining of all 19 cases showed positive ex-pressions of SMA,Desmin,and h-caldesmon,while complete loss of FH expression was ob-served.1 High throughput sequencing showed negative FH gene mutation in the germ line,which may result in the deletion of FH gene copy number.During the follow-up period,3 pa-tients(15.8%)relapsed,and no death occurred.Age(<35 years old)and family tumor histo-ry were significantly correlated with postoperative recurrence rate(P<0.05).Conclusion:FH-DUL has certain characteristic histological morphology,but it is not absolute.The unique patho-logical morphology combined with immunohistochemistry is conducive to the correct diagnosis of FH-DUL,and the combination of clinical features can guide genetic counseling and formal mu-tation detection.When patients are<35 years of age and have a family history of tumors,they should be alert to the risk of recurrence.