摘要
Abstract
Objective:Hydatidiform mole exhibits distinct genetic characteristics,and molecular diagnostics currently serve as an important and accurate method for diagnosis and classification.This study aims to investigate the value of short tandem repeat(STR)genotyping in the diagnosis and classification of hydatidiform mole and abnormal villous lesions,and its association with malignant transformation.
Methods:A retrospective analysis was conducted on 178 cases diagnosed by STR genotyping in the Department of Pathology of Shanxi Provincial Children's Hospital/Shanxi Provincial Maternal and Child Health Hospital from January 2019 to December 2024.STR genotyping results were compared with histopathological diagnoses and p57Kip2 immunohistochemical findings.Disease progression was also summarized.
Results:The patients had a median age of 36 years(range:24-50)and gestational age of 6-12 weeks.Among the 178 cases,99 were complete hydatidiform moles,58 partial hydatidiform moles,7 suspected partial hydatidiform moles,and 14 villous edema requiring exclusion of hydatidiform mole.STR genotyping identified 101 complete hydatidiform moles(84 monospermic androgenetic diploid,17 dispermic androgenetic diploid),59 partial hydatidiform moles(58 diandric triploid,1 tetraploid),4 chromosomal trisomies(16-,18-,21-,2-and 15-trisomy),1 triploidy with two maternal and one paternal contribution,and 13 diploid hydropic miscarriages.Follow-up revealed 13 cases progressed to gestational trophoblastic neoplasia,with a malignant transformation rate of 7.3%(13/178),including 12 invasive moles and 1 choriocarcinoma.Among them,8 cases were from monospermic complete hydatidiform moles(9.5%,8/84),3 from dispermic complete hydatidiform moles(17.7%,3/17),and 2 from partial hydatidiform moles(3.4%,2/59).No statistically significant difference in malignant transformation rates was observed among complete hydatidiform moles,dispermic complete hydatidiform moles,monospermic complete hydatidiform moles,and partial hydatidiform moles(all P>0.05).
Conclusion:STR genotyping enables accurate diagnosis and classification of hydatidiform mole and abnormal villous lesions,avoiding both overdiagnosis and underdiagnosis.It provides a theoretical basis for risk stratification and precise treatment of patients.关键词
葡萄胎/免疫组织化学/短串联重复序列/遗传学/恶变Key words
hydatidiform mole/immunohistochemistry/short tandem repeats/genetics/malignant transformation
