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
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
<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 analyze clinicopathologic classification features of the cases that were diagnosed as missed abortion preoperatively but turn out to be hydatidiform mole(HM)postoperatively.Methods:A retrospective analysi...Objective:To analyze clinicopathologic classification features of the cases that were diagnosed as missed abortion preoperatively but turn out to be hydatidiform mole(HM)postoperatively.Methods:A retrospective analysis was conducted on the patients who had a missed abortion in our hospital from 2017 to 2018.Clinical and pathological characteristics of different types of HMs were observed.Diagnostic value of karyotype in HM was discussed based on the karyotype analysis of villi chromosome.Results:A total of 278(11.2%)HM patients were misdiagnosed as missed abortion.Naked-eye detection rate of HM was 26.61%,and sensitivity of transvaginal ultrasound on HM was 7.91%.One hundred and forty-seven(52.88%)HM cases could not be genotyped via pathological hematoxylin and eosin(HE)staining.70 HM patients underwent P57 immunohistochemistry,which had guiding significance to the classification.In addition,the karyotype diagnosis of the tissues from 15 cases basically matched their P57 classifications.Conclusions:P57 should be listed as a routine test in hydatidiform pathological examination at the same time of HE staining,and what’s more,P57 expression is consistent with genotyping,which should be recommended for the patients with HM if observed by naked eye.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.
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.
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 analyze clinicopathologic classification features of the cases that were diagnosed as missed abortion preoperatively but turn out to be hydatidiform mole(HM)postoperatively.Methods:A retrospective analysis was conducted on the patients who had a missed abortion in our hospital from 2017 to 2018.Clinical and pathological characteristics of different types of HMs were observed.Diagnostic value of karyotype in HM was discussed based on the karyotype analysis of villi chromosome.Results:A total of 278(11.2%)HM patients were misdiagnosed as missed abortion.Naked-eye detection rate of HM was 26.61%,and sensitivity of transvaginal ultrasound on HM was 7.91%.One hundred and forty-seven(52.88%)HM cases could not be genotyped via pathological hematoxylin and eosin(HE)staining.70 HM patients underwent P57 immunohistochemistry,which had guiding significance to the classification.In addition,the karyotype diagnosis of the tissues from 15 cases basically matched their P57 classifications.Conclusions:P57 should be listed as a routine test in hydatidiform pathological examination at the same time of HE staining,and what’s more,P57 expression is consistent with genotyping,which should be recommended for the patients with HM if observed by naked eye.