Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, a...Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, although it is extremely rare in the latter. Here we describe a rare case of complete hydatidiform mole in a 56-year-old female patient who presented with genital bleeding combined with nausea and vomiting and a gravid uterus 16 cm in height. The ultrasound findings and the increase in serum β-HCG to 182566.00 mIU/ml suggested a diagnosis of complete hydatidiform mole. Given the post-menopausal state and the future risk of post-molar gestational trophoblastic neoplasia, we opted for total hysterectomy without preservation of the adnexa via a transabdominal approach, followed by antimitotic treatment with methotrexate. The uterus measured 18.45 cm × 11.18 cm with intra cavitary vesicles. Microscopic examination showed chorionic villi of variable size and shape, most of which were dilated and oedematous, associated with trophoblastic cell proliferation and haemorrhage suggestive of complete benign hydatidiform mole. Follow-up showed a consistent decrease in serum β-HCG levels and no evidence of residual disease. A suspicion of gestational trophoblastic disease should be borne in mind when evaluating a patient with peri- or post-menopausal bleeding to avoid delay in diagnosis and treatment.展开更多
BACKGROUND We describe the treatment strategy for a patient who was found to have a partial hydatidiform mole and coexisting fetus(PHMCF)during the second trimester.The patient was a 38-year-old Chinese woman who had ...BACKGROUND We describe the treatment strategy for a patient who was found to have a partial hydatidiform mole and coexisting fetus(PHMCF)during the second trimester.The patient was a 38-year-old Chinese woman who had become pregnant following in vitro fertilization and embryo transplantation.We wanted to determine the safest therapeutic strategy to terminate the PHMCF during the second trimester.CASE SUMMARY In this case,we present a patient who was found to have a PHMCF complicated with serious continuous vaginal bleeding and pre-eclampsia during the second trimester.After careful evaluation,the pregnancy was considered to be unsustainable and was terminated via caesarean section(CS).An infant with weak vital signs and a partially cystic placenta measuring 110 mm×95 mm×35 mm were delivered by CS.The patient was discharged after 4 d.The serum levels ofβ-human chorionic gonadotropin decreased to within a normal range 5 wk after the operation,and no evidence of persistent trophoblastic disease or lung metastases was noticed at the 6-mo follow-up.CONCLUSION CS termination of PHMCF during the second trimester may be a relatively safe therapeutic strategy.展开更多
BACKGROUND Cesarean scar molar pregnancy is extremely rare,but the incidence has been rising due to the continuous increase in the rate of cesarean section.The presence of a hydatidiform mole in the scar left on the u...BACKGROUND Cesarean scar molar pregnancy is extremely rare,but the incidence has been rising due to the continuous increase in the rate of cesarean section.The presence of a hydatidiform mole in the scar left on the uterus by the procedure may lead to severe complications.We performed a literature review and found only seven reported cases of cesarean scar molar pregnancy.Accurate diagnosis and appropriate treatment are extremely important for the patients’prognosis.CASE SUMMARY A 35-year-old woman,gravida 4,para 1,complained of vaginal bleeding lasting more than 1 mo and amenorrhea lasting more than 2 mo.The patient’s serum human chorionic gonadotropin was 4287800 IU/L.Ultrasound showed a 11.5 cm×7.5 cm mass at the anterior lower wall of the uterus.The patient underwent suction evacuation,and partial grape-like tissue mixed with blood clots was removed.Uterine arterial embolization was performed to control intraoperative and postoperative bleeding.Histological examination confirmed the presence of a hydatidiform mole in uterine scar.After surgery,there was still a mass with heterogeneous intensity near the isthmus of the uterus on magnetic resonance imaging.The patient then underwent chemotherapy.During the 6-mo follow-up period,the mass disappeared and the serum human chorionic gonadotropin level gradually decreased to normal level.CONCLUSION We report a case of cesarean scar molar pregnancy successfully cured by comprehensive treatment.We found that cesarean scar molar pregnancy was subject to intraoperative bleeding,and uterine arterial embolization before surgery may be helpful.展开更多
A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial ...A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial mole, but important to the treatment. We present a recent case in which STR polymorphism analysis clearly revealed a different genetic origin for the fetal and molar parts. STR polymorphisms on 15 variable number tandem repeat loci and a gender-determination locus, which were detected by polymerase chain reaction, indicating that the cord/placenta and molar tissue were parental and androgenous, respectively. During follow-up, the patient developed persistent gestational trophoblastic tumor (GTT) which was successfully treated with chemotherapy. In this case, STR polymorphism analysis exactly diagnosed a twin pregnancy consisting of a complete hydatidiform mole and a fetus.展开更多
ve To study the presence of c-Ha-ras oncogene mutations in hydatidiform mole (HM) tissues and to further explore its relationship with mole's malignancy
Summary: In situ hybridization was applied to locate and detect the expression of p57 KIP2 in hydatidiform mole (5 cases of partial hydatidiform mole and 18 cases of complete hydatidiform mole) and normal villi (23...Summary: In situ hybridization was applied to locate and detect the expression of p57 KIP2 in hydatidiform mole (5 cases of partial hydatidiform mole and 18 cases of complete hydatidiform mole) and normal villi (23 cases). The positive signals of p57 KIP2 expression were analyzed by HPIAS-1000 Image-Analysis System. p57 KIP2 was highly expressed in normal villi but showed distinct low expression in hydatidiform mole (P<0.01). Furthermore, the locus of low expression of p57 KIP2 accorded with the place where lesion of trophoblast occurred. Detection of p57 KIP2 made it possible to study the genetics of hydatidiform mole at the transcriptional level. Low expression of p57 KIP2 could be a molecular marker in hydatidiform mole and a target for therapy.展开更多
<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidifor...<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidiform mole (CHM) and partial HM (PHM) in products of conception (POC) and amniotic fluid (AF) specimens, and 2) frequency of whole-genome uniparental disomy (wgUPD) and triploidy in POC and AF specimens received at a US national reference laboratory.</span><span "=""> </span><b><span>Methods:</span></b><span> We reviewed consecutive 2138 POC and 3230 AF specimens and identified the cases with wgUPD and triploidy which are associated with molar pregnancy.</span><span "=""> </span><b><span>Results:</span></b><span "=""><span> Of 2138 consecutive POC specimens tested, SNP-based CMA detected wgUPD in 10 (0.47%) and triploidy in 84 (3.93%). Of the 10 wgUPD cases, 9 (90%) were confirmed as CHM. Of 3230 consecutive AF specimens, the array detected wgUPD in 1 case (0.03%) and triploidy in 11 (0.34%). </span><b><span>Conclusions:</span></b><span> SNP-based microarray allows detection of wgUPD in POC and AF specimens at a US national reference laboratory. Correctly diagnosing HM and differentiating CHM from PHM </span></span><span>are</span><span> important for clinical management. The effective SNP-based CMA detection of wgUPD in CHM may enable physicians to monitor patients at risk for gestational trophoblastic disease and neoplasm.</span><span "=""> </span><span "=""><span>Conventional chromosome analysis of POC has a high </span><span>failure rate, cannot be performed on formalin-fixed paraffin embedded samples, and cannot detect wgUPD. Further</span></span><span "=""> </span><span>multi-institutional collaborative assessmen</span><span> on accuracy, cost-effectiveness, and adequate access to SNP-based CMA, may lead this testing platform to be considered as the first-tier analysis tool for POC specimens, including those showing PHM or CHM.展开更多
Objective:To investigate the changes of the clinical features of hydatidiform mole.Methods:One hundred and thirteen cases of hydatidiform mole treated in Peking Union Medical College Hospital during 1989-2006 were rev...Objective:To investigate the changes of the clinical features of hydatidiform mole.Methods:One hundred and thirteen cases of hydatidiform mole treated in Peking Union Medical College Hospital during 1989-2006 were reviewed retrospectively and a comparison was made to historic data(1948-1975)using χ2 test.Results:The median age was 28 years(ranges from 20 to 55 years).The median gestational age was 90.2 days.Vaginal bleeding remaines the most common presenting symptom,ocurring in 94 of 113 cases(83.2%).Fifty-two of 113 cases(46%)presented with excessive uterine size.Pregnancy induced hypertension syndome(PIH),hyperemsis,hemoptysis and theca lutein cysts occurred in 4 of 113(3.5%),12 of 113(10.6%),4 of 113(3.5%)and 19 of 113 cases(16.8%)respectively.Incidence of postmolar trophoblastic neoplasia was 21%(24 of 113).Campared to historic data,the incidence of vaginal bleeding and PIH were statistically lower(P<0.005).The incidence of postmolar gastational trophoblastic neoplasia(GTN)was increased moderately without statistical significance compared to historic data.Conclusions:Because of the wide use of ultrasonography and serum hCG test,the current patients with hydatidiform mole have been diagnosed earlier in gestation and the clinical features have changed.Patterns of medical practice should be changed accordingly.展开更多
OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for h...OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC. RESULTS i)Among 38 hydatidiform mole samples, homozygous deletions in the p16 INK4a exon 1 were identified in 5 cases(13.2%),while no homozygous deletions were found in the p16I NK4aexon 1 of 30 early-pregnancy samples.The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant(P=0.036).ii)No homozygous deletions in the p14 ARF exon 1 or p16 INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples.iii) In all hydatidiform moles and early-pregnancy villi samples,no mutations were detected by DHPLC. CONCLUSION We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions,while mutations may be not a major cause.展开更多
Objective: By setting up a real-time fluorescent quantitative RT-PCR assay to detect human telomerase reverse transcriptase (hTERT) mRNA in hydatidiform mole in peripheral blood mononuclear cells, to analyze the corre...Objective: By setting up a real-time fluorescent quantitative RT-PCR assay to detect human telomerase reverse transcriptase (hTERT) mRNA in hydatidiform mole in peripheral blood mononuclear cells, to analyze the correlation between the expression level of hTERT mRNA and the prognosis of hydatidiform mole, and to evaluate the clinic value of quantitative determination of hTERT mRNA in the diagnosis of hydatidiform mole. Methods: A real-time fluorescent quantitative RT-PCR (FQ RT-PCR) assay based on TaqMan fluorescence methodology and the Light-Cycler system was used to quantify the full range of hTERT mRNA copy numbers in 30 samples of hydatidiform mole and the neoplasia of hydatidiform mole. The normalized hTERT (NhTERT) was standardized by quantifying the number of GAPDH transcripts as internal control and expressed as 100× (hTERT/GAPDH) ratio. Based on the prognosis of the hydatidiform mole, the patients were divided into two groups: the experimental group and the control group, to compare the telomerase reverse transcriptase mRNA expression in peripheral blood mononuclear cells. Results: hTERT mRNA was both expressed in the peripheral blood mononuclear cells and pathological tissues in the mole experimental group and the control group. In the mole experimental group, the values were 6.31±0.32 and 6.24±0.44, respectively, and there was no significant difference between them (P>0.05). But in the control group the values were 1.21±0.65 and 1.40±0.61, respectively, and there was no significant difference between them (P>0.05). The values in experimental group was significantly higher than those in the control group (P<0.01). Conclusion: Quantitative determination of hTERT mRNA by FQ RT-PCR is a rapid and sensitive method. hTERT in peripheral blood mononuclear cells may have potential use as a biomarker for the early detection of the prognosis of the hydatidiform mole.展开更多
Objective: To investigate the value of PAPP-A (pregnancy assouated plasma protein-A) in the diagnosis and prognosis of gestational trophoblastic disease (GTD). Methods: The serum 13-HCG (β-human chorionic gona...Objective: To investigate the value of PAPP-A (pregnancy assouated plasma protein-A) in the diagnosis and prognosis of gestational trophoblastic disease (GTD). Methods: The serum 13-HCG (β-human chorionic gonadotropin) and PAPP-A levels of 25 normal pregnant women, 28 patients with complete hydatidiform mole and 38 patients with invasive mole were measured by enzyme linked immunosorbent assay (ELISA) during the periods of diagnosis, treatment and follow-up. Results: Compared with control group, patients with complete mole and invasive mole had higher levels of β-HCG (P 〈 0.01). But there was no significant difference between the complete and invasive mole group (P 〉 0.05). The PAPP-A level of complete mole group was significantly higher than that of control group (P 〈 0.01). The PAPP-A level of invasive mole group was significantly higher than that of complete mole group and control group(P 〈 0.05). In complete mole group, serum β-HCG and PAPP-A levels of the patients with malignant sequelae were significantly higher than those with benign sequelae (P 〈 0.05). The β-HCG level had no relationship with the clinical stage of invasive mole. However, the PAPP-A level increased with clinical advancement of invasive mole. The levels of β-HCG and PAPP-A gradually decreased after evacuation in patients with complete moles, but maintained positive or even increased in patients with subsequent malignancy diagnosis of hydatidiform mole and invasive mole, but Conclusion: The PAPP-A level can give us some help not only in early also in the prognosis of malignant sequelae.展开更多
Background: Mainly for economic reasons, histopathologic analysis is not a systematic practice in medical structures in Senegal, and the utility of this exam is being questioned by many authors. The purpose of this pa...Background: Mainly for economic reasons, histopathologic analysis is not a systematic practice in medical structures in Senegal, and the utility of this exam is being questioned by many authors. The purpose of this paper is to report the results of this exam, in our medical practice and try to determine if this exam should be systematic of kept only for individualized cases. Material and Methods: It was a retrospective study from January 2010 to December 2018, carried out in the Laboratory of Pathology of the Teaching Hospital of Grand Yoff in Dakar. The data were collected from the register of pathologic examinations of the laboratory. Results: We registered 543 results of histopathologic examination of products of conception from the first trimester abortion. The women mean age was 22.4 years ± 6.2 with extremes of 17 and 46 years. The routine histopathologic assessment of products of first- trimester miscarriages highlighted in our study three pathologies: hydatidiform mole (24.7%), infection (4.6%) and ectopic pregnancy (0.09%). Only 11.7% of cases of Hydatidiform mole (HM) were suspected before the histopathologic assessment. In our sample, molar pregnancy seems to be higher in anembryonic conception with a prevalence of 45%. The prevalence of Complete Hydatidiform Mole (CHM) was higher than the one of Partial Hydatidiform Mole (PHM) (14.8% vs. 9.9% of miscarriages). Indeed, both require follow up to prevent or manage at time the occurrence of choriocarcinoma. Conclusion: The results of the histologic analysis after abortion in the first trimester of pregnancy show that this exam should be practiced systematically in routine in our context because of high prevalence of hydatidiform mole.展开更多
目的:探讨双胎之一完全性葡萄胎(complete hydatidiform mole with co-existing fetus,CHMCF)的临床特征、诊断及处理。方法:回顾性分析2019年1月—2021年12月郑州大学第一附属医院收治的6例CHMCF患者的临床资料,采用描述性方法对数据...目的:探讨双胎之一完全性葡萄胎(complete hydatidiform mole with co-existing fetus,CHMCF)的临床特征、诊断及处理。方法:回顾性分析2019年1月—2021年12月郑州大学第一附属医院收治的6例CHMCF患者的临床资料,采用描述性方法对数据进行分析。结果:6例CHMCF孕妇的年龄为(27.8±5.3)岁,中位妊娠次数3(1~6)次,中位发现孕周为14+1周(8+5~24周)。4例妊娠期反复阴道出血,2例出现妊娠剧吐,1例出现甲状腺功能亢进。6例患者中位血清人绒毛膜促性腺激素β亚单位(human chorionic gonadotrophin-β,β-hCG)最高值为389527(225354~1323961)U/L;5例超声提示妊娠合并葡萄胎,1例超声提示部分性葡萄胎。1例行产前诊断未发现异常,其余病例拒绝产前诊断。4例因反复阴道出血引产,1例于妊娠早期发现要求流产,1例于妊娠36周剖宫产分娩一活女婴。6例大体病理检查均显示为两个分离的组织,一个为正常胎盘,一个为葡萄胎。正常胎盘绒毛发育良好,葡萄胎绒毛水肿。短串联重复序列(short tandem repeat,STR)基因检测均显示葡萄胎组织为单精空卵(纯合型),符合完全性葡萄胎。随访6例患者均未继发妊娠滋养细胞肿瘤,中位β-hCG转阴的时间为2.5(2~6)个月。结论:CHMCF病例较为罕见,正确诊断对预后有重要临床意义,STR基因检测对诊断有一定帮助。展开更多
文摘Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, although it is extremely rare in the latter. Here we describe a rare case of complete hydatidiform mole in a 56-year-old female patient who presented with genital bleeding combined with nausea and vomiting and a gravid uterus 16 cm in height. The ultrasound findings and the increase in serum β-HCG to 182566.00 mIU/ml suggested a diagnosis of complete hydatidiform mole. Given the post-menopausal state and the future risk of post-molar gestational trophoblastic neoplasia, we opted for total hysterectomy without preservation of the adnexa via a transabdominal approach, followed by antimitotic treatment with methotrexate. The uterus measured 18.45 cm × 11.18 cm with intra cavitary vesicles. Microscopic examination showed chorionic villi of variable size and shape, most of which were dilated and oedematous, associated with trophoblastic cell proliferation and haemorrhage suggestive of complete benign hydatidiform mole. Follow-up showed a consistent decrease in serum β-HCG levels and no evidence of residual disease. A suspicion of gestational trophoblastic disease should be borne in mind when evaluating a patient with peri- or post-menopausal bleeding to avoid delay in diagnosis and treatment.
文摘BACKGROUND We describe the treatment strategy for a patient who was found to have a partial hydatidiform mole and coexisting fetus(PHMCF)during the second trimester.The patient was a 38-year-old Chinese woman who had become pregnant following in vitro fertilization and embryo transplantation.We wanted to determine the safest therapeutic strategy to terminate the PHMCF during the second trimester.CASE SUMMARY In this case,we present a patient who was found to have a PHMCF complicated with serious continuous vaginal bleeding and pre-eclampsia during the second trimester.After careful evaluation,the pregnancy was considered to be unsustainable and was terminated via caesarean section(CS).An infant with weak vital signs and a partially cystic placenta measuring 110 mm×95 mm×35 mm were delivered by CS.The patient was discharged after 4 d.The serum levels ofβ-human chorionic gonadotropin decreased to within a normal range 5 wk after the operation,and no evidence of persistent trophoblastic disease or lung metastases was noticed at the 6-mo follow-up.CONCLUSION CS termination of PHMCF during the second trimester may be a relatively safe therapeutic strategy.
基金National Natural Science Foundation of China(General Program),No.81971593,No.81771824,and No.81701681Precision Medicine Key Innovation Team Project,No.YT1601+1 种基金Social Development Projects of Key R&D Program in Shanxi Province,No.201703D321016Youth Innovation Fund,No.YC1426.
文摘BACKGROUND Cesarean scar molar pregnancy is extremely rare,but the incidence has been rising due to the continuous increase in the rate of cesarean section.The presence of a hydatidiform mole in the scar left on the uterus by the procedure may lead to severe complications.We performed a literature review and found only seven reported cases of cesarean scar molar pregnancy.Accurate diagnosis and appropriate treatment are extremely important for the patients’prognosis.CASE SUMMARY A 35-year-old woman,gravida 4,para 1,complained of vaginal bleeding lasting more than 1 mo and amenorrhea lasting more than 2 mo.The patient’s serum human chorionic gonadotropin was 4287800 IU/L.Ultrasound showed a 11.5 cm×7.5 cm mass at the anterior lower wall of the uterus.The patient underwent suction evacuation,and partial grape-like tissue mixed with blood clots was removed.Uterine arterial embolization was performed to control intraoperative and postoperative bleeding.Histological examination confirmed the presence of a hydatidiform mole in uterine scar.After surgery,there was still a mass with heterogeneous intensity near the isthmus of the uterus on magnetic resonance imaging.The patient then underwent chemotherapy.During the 6-mo follow-up period,the mass disappeared and the serum human chorionic gonadotropin level gradually decreased to normal level.CONCLUSION We report a case of cesarean scar molar pregnancy successfully cured by comprehensive treatment.We found that cesarean scar molar pregnancy was subject to intraoperative bleeding,and uterine arterial embolization before surgery may be helpful.
基金Supported by Production and Rresearch Projects of Guangdong Province (2007B090400140)
文摘A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial mole, but important to the treatment. We present a recent case in which STR polymorphism analysis clearly revealed a different genetic origin for the fetal and molar parts. STR polymorphisms on 15 variable number tandem repeat loci and a gender-determination locus, which were detected by polymerase chain reaction, indicating that the cord/placenta and molar tissue were parental and androgenous, respectively. During follow-up, the patient developed persistent gestational trophoblastic tumor (GTT) which was successfully treated with chemotherapy. In this case, STR polymorphism analysis exactly diagnosed a twin pregnancy consisting of a complete hydatidiform mole and a fetus.
基金This work was supported by the Bureau of Health of Guangdong Province (No. B1999139)
文摘ve To study the presence of c-Ha-ras oncogene mutations in hydatidiform mole (HM) tissues and to further explore its relationship with mole's malignancy
文摘Summary: In situ hybridization was applied to locate and detect the expression of p57 KIP2 in hydatidiform mole (5 cases of partial hydatidiform mole and 18 cases of complete hydatidiform mole) and normal villi (23 cases). The positive signals of p57 KIP2 expression were analyzed by HPIAS-1000 Image-Analysis System. p57 KIP2 was highly expressed in normal villi but showed distinct low expression in hydatidiform mole (P<0.01). Furthermore, the locus of low expression of p57 KIP2 accorded with the place where lesion of trophoblast occurred. Detection of p57 KIP2 made it possible to study the genetics of hydatidiform mole at the transcriptional level. Low expression of p57 KIP2 could be a molecular marker in hydatidiform mole and a target for therapy.
文摘<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidiform mole (CHM) and partial HM (PHM) in products of conception (POC) and amniotic fluid (AF) specimens, and 2) frequency of whole-genome uniparental disomy (wgUPD) and triploidy in POC and AF specimens received at a US national reference laboratory.</span><span "=""> </span><b><span>Methods:</span></b><span> We reviewed consecutive 2138 POC and 3230 AF specimens and identified the cases with wgUPD and triploidy which are associated with molar pregnancy.</span><span "=""> </span><b><span>Results:</span></b><span "=""><span> Of 2138 consecutive POC specimens tested, SNP-based CMA detected wgUPD in 10 (0.47%) and triploidy in 84 (3.93%). Of the 10 wgUPD cases, 9 (90%) were confirmed as CHM. Of 3230 consecutive AF specimens, the array detected wgUPD in 1 case (0.03%) and triploidy in 11 (0.34%). </span><b><span>Conclusions:</span></b><span> SNP-based microarray allows detection of wgUPD in POC and AF specimens at a US national reference laboratory. Correctly diagnosing HM and differentiating CHM from PHM </span></span><span>are</span><span> important for clinical management. The effective SNP-based CMA detection of wgUPD in CHM may enable physicians to monitor patients at risk for gestational trophoblastic disease and neoplasm.</span><span "=""> </span><span "=""><span>Conventional chromosome analysis of POC has a high </span><span>failure rate, cannot be performed on formalin-fixed paraffin embedded samples, and cannot detect wgUPD. Further</span></span><span "=""> </span><span>multi-institutional collaborative assessmen</span><span> on accuracy, cost-effectiveness, and adequate access to SNP-based CMA, may lead this testing platform to be considered as the first-tier analysis tool for POC specimens, including those showing PHM or CHM.
文摘Objective:To investigate the changes of the clinical features of hydatidiform mole.Methods:One hundred and thirteen cases of hydatidiform mole treated in Peking Union Medical College Hospital during 1989-2006 were reviewed retrospectively and a comparison was made to historic data(1948-1975)using χ2 test.Results:The median age was 28 years(ranges from 20 to 55 years).The median gestational age was 90.2 days.Vaginal bleeding remaines the most common presenting symptom,ocurring in 94 of 113 cases(83.2%).Fifty-two of 113 cases(46%)presented with excessive uterine size.Pregnancy induced hypertension syndome(PIH),hyperemsis,hemoptysis and theca lutein cysts occurred in 4 of 113(3.5%),12 of 113(10.6%),4 of 113(3.5%)and 19 of 113 cases(16.8%)respectively.Incidence of postmolar trophoblastic neoplasia was 21%(24 of 113).Campared to historic data,the incidence of vaginal bleeding and PIH were statistically lower(P<0.005).The incidence of postmolar gastational trophoblastic neoplasia(GTN)was increased moderately without statistical significance compared to historic data.Conclusions:Because of the wide use of ultrasonography and serum hCG test,the current patients with hydatidiform mole have been diagnosed earlier in gestation and the clinical features have changed.Patterns of medical practice should be changed accordingly.
基金This work was supported by a grant from the National Natural Science Foundation of China(No.30772321)
文摘OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC. RESULTS i)Among 38 hydatidiform mole samples, homozygous deletions in the p16 INK4a exon 1 were identified in 5 cases(13.2%),while no homozygous deletions were found in the p16I NK4aexon 1 of 30 early-pregnancy samples.The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant(P=0.036).ii)No homozygous deletions in the p14 ARF exon 1 or p16 INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples.iii) In all hydatidiform moles and early-pregnancy villi samples,no mutations were detected by DHPLC. CONCLUSION We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions,while mutations may be not a major cause.
基金Supported by the Natural Science Foundation of Shaanxi Province (2005C265)
文摘Objective: By setting up a real-time fluorescent quantitative RT-PCR assay to detect human telomerase reverse transcriptase (hTERT) mRNA in hydatidiform mole in peripheral blood mononuclear cells, to analyze the correlation between the expression level of hTERT mRNA and the prognosis of hydatidiform mole, and to evaluate the clinic value of quantitative determination of hTERT mRNA in the diagnosis of hydatidiform mole. Methods: A real-time fluorescent quantitative RT-PCR (FQ RT-PCR) assay based on TaqMan fluorescence methodology and the Light-Cycler system was used to quantify the full range of hTERT mRNA copy numbers in 30 samples of hydatidiform mole and the neoplasia of hydatidiform mole. The normalized hTERT (NhTERT) was standardized by quantifying the number of GAPDH transcripts as internal control and expressed as 100× (hTERT/GAPDH) ratio. Based on the prognosis of the hydatidiform mole, the patients were divided into two groups: the experimental group and the control group, to compare the telomerase reverse transcriptase mRNA expression in peripheral blood mononuclear cells. Results: hTERT mRNA was both expressed in the peripheral blood mononuclear cells and pathological tissues in the mole experimental group and the control group. In the mole experimental group, the values were 6.31±0.32 and 6.24±0.44, respectively, and there was no significant difference between them (P>0.05). But in the control group the values were 1.21±0.65 and 1.40±0.61, respectively, and there was no significant difference between them (P>0.05). The values in experimental group was significantly higher than those in the control group (P<0.01). Conclusion: Quantitative determination of hTERT mRNA by FQ RT-PCR is a rapid and sensitive method. hTERT in peripheral blood mononuclear cells may have potential use as a biomarker for the early detection of the prognosis of the hydatidiform mole.
文摘Objective: To investigate the value of PAPP-A (pregnancy assouated plasma protein-A) in the diagnosis and prognosis of gestational trophoblastic disease (GTD). Methods: The serum 13-HCG (β-human chorionic gonadotropin) and PAPP-A levels of 25 normal pregnant women, 28 patients with complete hydatidiform mole and 38 patients with invasive mole were measured by enzyme linked immunosorbent assay (ELISA) during the periods of diagnosis, treatment and follow-up. Results: Compared with control group, patients with complete mole and invasive mole had higher levels of β-HCG (P 〈 0.01). But there was no significant difference between the complete and invasive mole group (P 〉 0.05). The PAPP-A level of complete mole group was significantly higher than that of control group (P 〈 0.01). The PAPP-A level of invasive mole group was significantly higher than that of complete mole group and control group(P 〈 0.05). In complete mole group, serum β-HCG and PAPP-A levels of the patients with malignant sequelae were significantly higher than those with benign sequelae (P 〈 0.05). The β-HCG level had no relationship with the clinical stage of invasive mole. However, the PAPP-A level increased with clinical advancement of invasive mole. The levels of β-HCG and PAPP-A gradually decreased after evacuation in patients with complete moles, but maintained positive or even increased in patients with subsequent malignancy diagnosis of hydatidiform mole and invasive mole, but Conclusion: The PAPP-A level can give us some help not only in early also in the prognosis of malignant sequelae.
文摘Background: Mainly for economic reasons, histopathologic analysis is not a systematic practice in medical structures in Senegal, and the utility of this exam is being questioned by many authors. The purpose of this paper is to report the results of this exam, in our medical practice and try to determine if this exam should be systematic of kept only for individualized cases. Material and Methods: It was a retrospective study from January 2010 to December 2018, carried out in the Laboratory of Pathology of the Teaching Hospital of Grand Yoff in Dakar. The data were collected from the register of pathologic examinations of the laboratory. Results: We registered 543 results of histopathologic examination of products of conception from the first trimester abortion. The women mean age was 22.4 years ± 6.2 with extremes of 17 and 46 years. The routine histopathologic assessment of products of first- trimester miscarriages highlighted in our study three pathologies: hydatidiform mole (24.7%), infection (4.6%) and ectopic pregnancy (0.09%). Only 11.7% of cases of Hydatidiform mole (HM) were suspected before the histopathologic assessment. In our sample, molar pregnancy seems to be higher in anembryonic conception with a prevalence of 45%. The prevalence of Complete Hydatidiform Mole (CHM) was higher than the one of Partial Hydatidiform Mole (PHM) (14.8% vs. 9.9% of miscarriages). Indeed, both require follow up to prevent or manage at time the occurrence of choriocarcinoma. Conclusion: The results of the histologic analysis after abortion in the first trimester of pregnancy show that this exam should be practiced systematically in routine in our context because of high prevalence of hydatidiform mole.
文摘目的:探讨双胎之一完全性葡萄胎(complete hydatidiform mole with co-existing fetus,CHMCF)的临床特征、诊断及处理。方法:回顾性分析2019年1月—2021年12月郑州大学第一附属医院收治的6例CHMCF患者的临床资料,采用描述性方法对数据进行分析。结果:6例CHMCF孕妇的年龄为(27.8±5.3)岁,中位妊娠次数3(1~6)次,中位发现孕周为14+1周(8+5~24周)。4例妊娠期反复阴道出血,2例出现妊娠剧吐,1例出现甲状腺功能亢进。6例患者中位血清人绒毛膜促性腺激素β亚单位(human chorionic gonadotrophin-β,β-hCG)最高值为389527(225354~1323961)U/L;5例超声提示妊娠合并葡萄胎,1例超声提示部分性葡萄胎。1例行产前诊断未发现异常,其余病例拒绝产前诊断。4例因反复阴道出血引产,1例于妊娠早期发现要求流产,1例于妊娠36周剖宫产分娩一活女婴。6例大体病理检查均显示为两个分离的组织,一个为正常胎盘,一个为葡萄胎。正常胎盘绒毛发育良好,葡萄胎绒毛水肿。短串联重复序列(short tandem repeat,STR)基因检测均显示葡萄胎组织为单精空卵(纯合型),符合完全性葡萄胎。随访6例患者均未继发妊娠滋养细胞肿瘤,中位β-hCG转阴的时间为2.5(2~6)个月。结论:CHMCF病例较为罕见,正确诊断对预后有重要临床意义,STR基因检测对诊断有一定帮助。