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首页|期刊导航|现代妇产科进展|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

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

Clinical and pathological analysis of 19 cases of fumarate hydratase-deficient uterine leio-myomas

中文摘要英文摘要

目的:探讨延胡索酸缺陷型子宫平滑肌瘤(FH-DUL)的临床特征、组织形态、免疫表型和分子特点,并分析与复发风险相关的危险因素.方法:收集 2019 年 11 月至2023 年4 月于苏州市立医院本部诊治的19 例FH-DUL,回顾分析其临床表现、组织学特征、免疫组化表型,并对其中 1 例行高通量二代测序(NGS法)检测.结果:19 例FH-DUL患者平均年龄(38.6±8.2)岁,其中5 例(26.3%)有月经量增多、下腹包块、痛经等临床症状,其余14 例(73.7%)为体检发现.11 例(57.9%)为多发肌瘤(≥2 枚),8 例(42.1%)为单发性肌瘤,最大径4~13cm.1 例(5.3%)为黏膜下肌瘤,13 例(68.4%)为肌壁间肌瘤,5 例(26.3%)为浆膜下肌瘤.6 例(31.8%)患者的一级亲属有子宫平滑肌瘤病史.13 例(68.4%)行腹腔镜下子宫肌瘤剔除术,6 例(31.6%)行腹腔镜下全子宫切除术.19 例均具有至少一个典型的FH-DUL形态特征.低倍镜视野下:19 例(100%)可见薄壁鹿角状血管,13 例(68.4%)明显富于细胞,11 例(57.9%)可见灶性的肺泡样水肿间质.高倍镜视野下:11 例(57.9%)见奇异形核,12 例(63.2%)见胞质内嗜酸性小球沉积,8 例(42.1%)见显著的嗜酸性大核仁及核仁周围空晕,核分裂<5 个/HPF,未见明显肿瘤性凝固性坏死.19 例免疫组化均为SMA、Desmin、h-caldesmon阳性表达,FH表达完全缺失.1 例行高通量测序示FH基因胚系突变阴性,可能致病变异为FH基因拷贝数缺失.19 例患者随访期内复发3 例(15.8%),无死亡.年龄(<35 岁)、家族肿瘤史与患者术后复发率呈显著相关(P均<0.05).结论:FH-DUL具有一定特征的组织学形态,但并不绝对.独特的病理形态联合免疫组化检查有利于FH-DUL的诊断,结合临床特征可以指导进行遗传咨询和正式的突变检测.当患者年龄<35 岁、有肿瘤家族史时,需警惕其复发风险.

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.

陆丹丹;沈铭红;陈汝蕾;吕京澴

南京医科大学附属苏州医院病理科,苏州 215002

临床医学

子宫肿瘤延胡索酸水合酶平滑肌瘤免疫组织化学回顾性研究

Tumors of the uterusFumarate hydrataseLeiomyomaImmunohistochem-istryRetrospective studies

《现代妇产科进展》 2024 (001)

16-20 / 5

苏州市姑苏卫生人才培养项目(No:GSWS2019054)

10.13283/j.cnki.xdfckjz.2024.01.003

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