We treated a 54-year-old woman who was suffering from membranoproliferative glomerulonephritis associated with a complete type of hydatidiform mole. The renal manifestations were proteinuria and hematuria. A renal biopsy, performed before gynecologic management, disclosed focal and segmental subendothelial deposits with a proliferation of the mesangial cell and showed irregularly thickened capillary loops by light and electronmicroscoy. Genralized edema, proteinuria and hematuria were completely recovered by suction and curettage of the hydatidiform mole with prophylactic chemotherapy. The clinical manifestation of earlier presented 3 cases have been the nephrotic syndrome. The common feature of them was a complete remission of the nephropathy after the removal of the hydatidiform mole. The relationship between the hydatidiform mole and glomerulonephritis remains unresolved at present. But we concluded that the hydatidiform mole might be a cause of glomerulonephritis in this case.
Case Report ; Diagnosis, Differential ; Edema/etiology ; Female ; Glomerulonephritis, Membranoproliferative/pathology ; Glomerulonephritis, Membranoproliferative/etiology* ; Hematuria/etiology ; Human ; Hydatidiform Mole/therapy ; Hydatidiform Mole/diagnosis* ; Hydatidiform Mole/complications* ; Middle Age ; Pregnancy ; Proteinuria/etiology ; Uterine Neoplasms/therapy ; Uterine Neoplasms/diagnosis* ; Uterine Neoplasms/complications*

Abortion, Induced ; Adult ; Female ; Fetus ; embryology ; Humans ; Hydatidiform Mole ; pathology ; Pregnancy ; Pregnancy Complications, Neoplastic ; pathology ; Pregnancy, Twin ; Uterine Neoplasms ; pathology

Gestational trophoblastic tumors (GTTs) are malignant lesions that often cause abnormal genital bleeding and may present with hemoptysis, intraperitoneal bleeding or acute neurologic deficits. GTTs are generally highly chemosensitive with more favorable outcomes than other comparable malignancies. Here we report a rare case of invasive mole (FIGO stage IV, WHO score16) presenting with renal subcapsular hematoma due to bleeding renal metastasis. The patient had a pretreatment β-human chorionic gonadotrophin (β-HCG) level of 462 047 mIU/ml and received combined chemotherapy with etoposide, methotrexate, actinomycin-D, cyclophosphamide and vincristine with also adjuvant surgeries including hysterectomy and nephrectomy. The patient recovered well and the tumor has remained in complete remission for one year and a half.
Antineoplastic Combined Chemotherapy Protocols ; Female ; Hemorrhage ; etiology ; Humans ; Hydatidiform Mole, Invasive ; complications ; Kidney ; pathology ; Pregnancy ; Uterine Neoplasms ; complications

Twin pregnancy with mosaic partial hydatidiform mole (PHM) and survival of two healthy fetuses following in vitro fertilization and embryos transfer (IVF-ET) is a rare situation and is considered a challenge for management. A 32-year-old Chinese woman conceived twin pregnancy following IVF-ET. At 22 weeks' gestation, an additional intrauterine echogenic mass with features of PHM were shown by successive ultrasound examinations. At 35 weeks' gestation, two live male infants and two placentas were delivered by caesarean section (CS). Histologic examination of the abnormal placenta confirmed mosaic PHM. Genetic study showed the abnormal placental mosaicism (expressed in molar-69XXY and normal vili-46XY), co-existing with a hypospadia new-born (46XY) in one amniotic sac. However, the other one was normal. Serial serum β-hCG levels showed a declining trend and serum β-human chorionic gonadotropin (hCG) were undetectable at 6 months after delivery. The case demonstrated that it is possible to prolonged gestation by PHM under close surveillance during the entire pregnancy.
Adult ; Female ; Fertilization in Vitro ; Humans ; Hydatidiform Mole ; genetics ; Infant, Newborn ; Male ; Mosaicism ; Placenta ; metabolism ; pathology ; Pregnancy ; Pregnancy, Twin ; genetics

OBJECTIVE: To explore the genetic etiology of recurrent hydatidiform mole (RHM) and provide accurate guidance for reproduction. METHODS: Peripheral venous blood samples of the probands with RHM and members from 5 unrelated pedigrees were collected. Genomic DNA was extracted by using routine method, and whole exome sequencing was carried out to detect variants of RHM-associated genes including NLRP7 and KHDC3L. Sanger sequencing and real-time quantitative PCR (RT-qPCR) were used to validate the candidate variants and delineate their parental origin. RESULTS: Homozygous or compound heterozygous variants of the NLRP7 gene were identified in four patients from three pedigrees, which included a homozygous deletion of exon 1 to 4 of NLRP7 in patient P1 and her elder sister, compound heterozygous variants of NLRP7 c.939delG (p.Q314Sfs*6) pat and c.1533delG (p.N512Tfs*4) mat in patient P2, and compound heterozygous variants of NLRP7 c.2389_2390delTC (p.A798Qfs*6) pat and c.2165A>G (p.D722G) mat in patient P4. All variants were interpreted as pathogenic or likely pathogenic according to the American College of Medical and Genomics (ACMG) guidelines. Among these, NLRP7 exons 1 to 4 deletion, c.939delG (p.Q314Sfs*6), c.1533delG (p.N512Tfs*4) and c.2389_2390delTC (p.A798Qfs*6) were unreported previously. CONCLUSION Variants of the NLRP7 gene probably underlay autosomal recessive RHM in the three pedigrees, and definitive molecular diagnosis is beneficial for accurate genetic counseling. Above finding has also enriched the spectrum of the NLRP7 variants underlying RHM.
Adaptor Proteins, Signal Transducing/genetics* ; Aged ; China ; Female ; Homozygote ; Humans ; Hydatidiform Mole/pathology* ; Mutation ; Pedigree ; Pregnancy ; Sequence Deletion

OBJECTIVETo study the function of F10 gene, a novel hydaditiform mole-related gene.

METHODSA549 cell line was transfected with the F10 gene of forward or reverse sequence or with the empty vector, respectively. The cellular mRNA was extracted after 24 h of transfection to screen for the differentially expressed genes among the 3 transfected and the control cells using differential display-polymerase chain reaction (ddPCR).

RESULTSThe bands representing differentially expressed genes were amplified from the cells, and the products were linked to T-Vector for sequence analysis. Several genes were screened by Blasting and their expressions were confirmed by fluorescent quantitative PCR.

CONCLUSIONF10 gene is functionally related to cell proliferation and apoptosis.

Apoptosis ; Cell Line, Tumor ; Cell Proliferation ; Epithelial Cells ; metabolism ; Female ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Hydatidiform Mole ; genetics ; Hydatidiform Mole, Invasive ; genetics ; Lung Neoplasms ; genetics ; pathology ; Oncogenes ; genetics ; Pregnancy ; Transfection ; Uterine Neoplasms ; genetics

Hydatidiform mole has been known for its potential for malignant transformation and for its various chromosomal karyotypes. However, the relationship between histologic grading of hydatidiform mole and its future malignant transformation is still controversial. This study was undertaken to determine the cytogentic aspects of gestational trophoblastic neoplasia, especially of hydatidiform mole with respect to its malignant transformation. Cytogenetic studies were performed in 34 cases of hydatidiform mole, 2 cases of invasive mole, and 2 cases of choriocarcinoma. The results were analyzed comparatively using clinical histopathological and endocrinological (human chorionic gonadotropin titer) data. Among the 34 cases of hydatidiform mole studied, 26 cases were complete moles and the remaining 8 were partial moles with karyotypes being diploid (46, XX, 24, 46, XY, 2), and triploid (69, XXY) respectively. Two cases of XX mole among 26 complete hydatidiform moles developed distant metastasis during the follow-ups, suggesting transformation into choriocarcinoma; both cases showed 46, XX in karyotype and Grade III in histologic grading. Not one case of triploid partial hydatidiform mole transformed into malignancy. The karyotypes of the two cases each of invasive mole and choriocarcinoma were from neardiploid to hypotetraploid, and aneuploid cells were predominant in choriocarcinoma.
Adult ; Cell Transformation, Neoplastic/pathology ; Chromosome Aberrations* ; Female ; Human ; Hydatidiform Mole/pathology* ; Karyotyping ; Middle Age ; Pregnancy ; Uterine Neoplasms/pathology* ; Uterus/pathology

Adaptor Proteins, Signal Transducing ; genetics ; Animals ; Female ; Fertilization ; Humans ; Hydatidiform Mole ; genetics ; pathology ; Karyotyping ; Male ; Mosaicism ; Mutation ; Pregnancy ; Spermatozoa ; Uterine Neoplasms ; genetics ; pathology

Invasive mole is a benign gestational trophoblastic disease that arises from the myometrial invasion of any gestational event via direct extension through tissue or vascular structures. Invasive mole (and other gestational trophoblastic diseases) may present with life-threatening complications including uterine perforation, excessive bleeding, acute hemoperitoneum, and abdominal pain. We report a case of invasive mole presenting as abdominal distention in a 51-year-old perimenopausal woman (gravida 12, para 12, abortion 0). The patient was admitted to the gynecology clinic with a giant uterine mass filling the pelvic and abdominal cavity. To our knowledge, this is the first case in the literature of a gestational trophoblastic neoplasia presenting with uterine mass of 28 weeks' gestational size in this age group. Interestingly, complications such as uterine rupture or invasion of the adjacent structures (such as parametrial tissues or blood vessels) had not developed in our patient despite the considerable enlargement of the uterus.
Abdominal Cavity ; Abdominal Pain ; Female ; Gestational Trophoblastic Disease ; Gynecology ; Hemoperitoneum ; Hemorrhage ; Humans ; Hydatidiform Mole, Invasive* ; Hysterectomy ; Middle Aged ; Pathology* ; Pregnancy ; Trophoblasts ; Uterine Perforation ; Uterine Rupture ; Uterus

OBJECTIVETo determine the parental origin of the genome in the molar pregnancies of two familes with familial recurrent hydatidiform mole (FRHM) and to investigate whether the gene responsible for FRHM is likely to be located within the 19q13.4 region in these familes.

METHODSThe features of complete hydatidiform mole (CHM) were confirmed by pathological examination. DNA of CHM was prepared from sections of formalin-fixed paraffin-embedded blocks of molar tissue following laser capture microdissection. The polymerace chain reaction was used to amplify microsatellite polymorphisms in DNA from the patients, their husbands and the captured molar tissue. Parental contributions to the molar tissue were determined using ABI 310 GeneScan software. Genotyping and haplotype analysis of the candidate region on 19q13.4 was performed for members of both families using 25 microsatellite markers.

RESULTSOne CHM from each family was identified as a biparental complete hydatidiform mole. All patients were heterozygous for most of the markers in the chromosome region of interest. In addition the two affected sisters in one of the families had different genotypes for the 19q13.4 region, suggesting that mutations in a different locus might be responsible for the disorder in this family.

CONCLUSIONThe location of the gene responsible for FRHM is unlikely to be located in the 19q13.4 chromosomal region in these two families suggesting that FRHM shows genetic heterogeneity.

Family Health ; Female ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; genetics ; Genotype ; Haplotypes ; Humans ; Hydatidiform Mole ; genetics ; pathology ; Male ; Neoplasm Recurrence, Local ; Pedigree ; Pregnancy