Coriocarcinoma gestacional primario de cuello uterino. Presentación de un caso

Choriocarcinoma represents a type of malignant tumor of gestational trophoblastic disease. It can develop after a molar pregnancy, miscarriage, normal or ectopic pregnancy. Generally its seat site is the uterine body; infrequent places such as the cervix have been described. We report the case of a 37-year-old patient is reported, VI gestations IV deliveries I cesarean section I molar pregnancy, with abnormal uterine bleeding, which is referred to the Hospital Oncology Service. On gynecological examination, an exophytic mass is observed in the cervix. A biopsy was taken that reported: Gestational choriocarcinoma and plasma levels of β-hCG were verified: 13805 IU / L. A total abdominal hysterectomy was performed with preservation of the ovaries. It was concluded as stage I of the International Federation of Gynecology and Obstetrics and 8, according to the score of the World Health Organization (ST I: 8), for which adjuvant was indicated. Currently no evidence of disease. Keywords: Choriocarcinoma, gestational trophoblastic disease, cervix.

Epigenetic Dysregulation of Trophoblastic Gene Expression in Gestational Trophoblastic Disease

Gestational trophoblastic diseases (GTDs) have not been investigated for their epigenetic marks and consequent transcriptomic changes. Here, we analyzed genome-wide DNA methylation and transcriptome data to reveal the epigenetic basis of disease pathways that may lead to benign or malignant GTDs. RNA-Seq, mRNA microarray, and Human Methylation 450 BeadChip data from complete moles and choriocarcinoma cells were bioinformatically analyzed. Paraffin-embedded tissues from complete moles and control placentas were used for tissue microarray construction, DNMT3B immunostaining and immunoscoring. We found that DNA methylation increases with disease severity in GTDs. Differentially expressed genes are mainly upregulated in moles while predominantly downregulated in choriocarcinoma. DNA methylation principally influences the gene expression of villous trophoblast differentiation-related or predominantly placenta-expressed genes in moles and choriocarcinoma cells. Affected genes in these subsets shared focal adhesion and actin cytoskeleton pathways in moles and choriocarcinoma. In moles, cell cycle and differentiation regulatory pathways, essential for trophoblast/placental development, were enriched. In choriocarcinoma cells, hormone biosynthetic, extracellular matrix-related, hypoxic gene regulatory, and differentiation-related signaling pathways were enriched. In moles, we found slight upregulation of DNMT3B protein, a developmentally important de novo DNA methylase, which is strongly overexpressed in choriocarcinoma cells that may partly be responsible for the large DNA methylation differences. Our findings provide new insights into the shared and disparate molecular pathways of disease in GTDs and may help in designing new diagnostic and therapeutic tools.

Case Report: Acute abdomen presentation revealing a metastatic invasive mole with uterine rupture

Gestational trophoblastic neoplasia refers to the aggressive subset of gestational trophoblastic disease, including invasive mole, choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. These tumors may have atypical clinical presentations that can mislead the diagnosis. The reported case is a 48-year-old woman in perimenopause, without any history of vaginal bleedings nor molar pregnancy, who presented to the Emergency Department with acute abdominal pain. Serum beta human chorionic gonadotropin (β-HCG) was highly elevated at 261 675.23 mIU/ml. A complicated invasive mole was suspected, and an abdominal computed tomography was performed, showing a moderate hemoperitoneum associated to complex cystic and solid uterine mass, with a common left iliac adenomegaly and multiple pulmonary nodules. MRI showed a multiloculated cystic uterine mass with zones of hemorrhage recalling an invasive mole with perforation of the posterior uterus wall, associated to a high abundance hemoperitoneum. The diagnosis of a metastatic invasive mole complicated of uterine rupture and hemoperitoneum was retained. A surgical intervention was decided immediately and a subtotal hysterectomy with bilateral annexectomy was done. Pathologic examination of the specimen was positive for an invasive mole. The patient was proposed for chemotherapy. This case study will increase awareness of unusual clinical presentations of gestational trophoblastic neoplasia We believe that our case will contribute to the literature not only because of the rarity of this entity in perimenopausal period, but also due the atypical clinical presentation as acute abdomen without vaginal bleeding nor history of molar pregnancy evacuation