Browse
Submit Data
Databases
API
Help

Dataset Information

16 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Primary vaginal clear cell adenocarcinoma accompanied by Herlyn-Werner-Wunderlich syndrome without prenatal diethylstilbestrol exposure: a case report.

ABSTRACT: We report a rare case of a 40 years old woman with primary vaginal clear cell adenocarcinoma (CCA) accompanied by Herlyn-Werner-Wunderlich syndrome (HWWS) and without any prenatal diethylstilbestrol exposure. Pathological results indicated that the CCA was surrounded by adenosis and that there was a benign to malignant transformation of several glands in the epithelium, so the CCA was believed to have arisen from the adenosis. The literature review disclosed that genitourinary anomalies might be associated with an increased risk of adenocarcinoma, but the mechanism was not clear.

SUBMITTER: Mei L

PROVIDER: S-EPMC7716125 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Primary vaginal clear cell adenocarcinoma accompanied by Herlyn-Werner-Wunderlich syndrome without prenatal diethylstilbestrol exposure: a case report.

Mei Ling L Zou Juan J Chen Qijun Q Jiang Wei W Chen Yueyue Y

International journal of clinical and experimental pathology 20201101 11

We report a rare case of a 40 years old woman with primary vaginal clear cell adenocarcinoma (CCA) accompanied by Herlyn-Werner-Wunderlich syndrome (HWWS) and without any prenatal diethylstilbestrol exposure. Pathological results indicated that the CCA was surrounded by adenosis and that there was a benign to malignant transformation of several glands in the epithelium, so the CCA was believed to have arisen from the adenosis. The literature review disclosed that genitourinary anomalies might be ...[more]

PMID: 33284870

Similar Datasets

Herlyn-Werner-Wunderlich syndrome and its complications: A report of two cases and literature review.

Project description:Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital malformation characterized by uterus didelphys, unilateral blind hemivagina, and ipsilateral renal agenesis. The obstructed vagina affects menstrual flow, leading to related clinical symptoms after menarche. However, the age of onset, initial symptoms, and clinical complications differ among patients owing to the different types of vaginal septum. Herein, we report 2 cases. The first case is of a 20-year-old woman who presented with fever; she was diagnosed with vaginitis and pelvic inflammation due to the vaginal septum with ostiole. The second case is of a 12-year-old girl who complained of abdominal pain; she was diagnosed as having pelvic inflammation, omentitis, and suppurative appendicitis due to the atretic vaginal septum.

| S-EPMC8237300 | biostudies-literature

Herlyn-Werner-Wunderlich syndrome: An unusual presentation with pyocolpos.

Project description:Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information. The optimal treatment is full excision and marsupialization of the obstructing vaginal septum so that both uteri can drain through the patent vagina. The authors report a case of a 22-year-old female with an unusual presentation of Herlyn-Werner-Wunderlich syndrome complicated by pyocolpos, which was successfully managed by vaginal septum resection and drainage of pus.

| S-EPMC5547086 | biostudies-other

A challenging diagnosis and management of Herlyn-Werner-Wunderlich Syndrome in low-resource Settings: A case report complicated with hydronephrosis.

Project description:IntroductionHerlyn-Werner-Wunderlich syndrome is a rare congenital disorder that consists of a didelphic uterus, hemivaginal septum, and unilateral renal agenesis. Both diagnosis and management can be challenging in low-income countries.Case presentationa 13-year-old female who experienced recurrent pelvic pain, dysmenorrhea, and abdominal mass for one month. We could not obtain the MRI as it was unavailable in our hospital, and the patient cannot afford its expensive cost in a private center. Instead, US showed an absent right kidney and doubled uterus with a heterogeneous cystic formation. A pelvic CT scan revealed an absent right kidney, an enlarged left kidney, a double uterus, and a left hematocolpos. We established the diagnosis of Herlyn-Werner-Wunderlich syndrome and started planning for correcting the anomalies via laparotomy.Discussionultrasound detects uterus didelphys, hematocolpos, hematometrocolpos, and renal agenesis but cannot identify the vaginal septum and the type of müllerian defect. The MRI is more convenient for a thorough assessment, but it is a high-priced diagnostic method.Conclusionalthough MRI is the gold standard for establishing the diagnosis and preoperative planning, ultrasound and CT scan can be an alternative, less expensive, and reliable approach. In addition, Laparoscopy or vaginoscopy may not be available in these countries. Therefore, correcting the anomalies can be achieved with laparotomy, which results in acceptable outcomes without any complications.

| S-EPMC8437768 | biostudies-literature

Point-of-care Ultrasound Aiding in the Diagnosis of Herlyn-Werner-Wunderlich Syndrome.

Project description:We present a case of a 12-year-old female with a history of congenital solitary kidney presenting to an academic pediatric emergency department (ED) in acute abdominal pain. Using ultrasound as the initial diagnostic modality, the patient was found to have Herlyn-Werner-Wunderlich syndrome (HWWS), an abnormal development of the Müllerian system during embryogenesis resulting in obstructed hemivagina with resulting hematometrocolpos. The patient presented with undifferentiated abdominopelvic pain, and in the course of the ED workup was diagnosed with a disorder infrequently encountered by emergency physicians. We present a case of markedly abnormal point-of-care ultrasound findings prompting additional studies, ultimately leading to a diagnosis of HWWS during the initial ED visit.

| S-EPMC5965217 | biostudies-literature

Clear cell adenocarcinoma of female urethra: A case report.

Project description:Primary malignancies of the female urethra are rare, accounting for less than 1% of genitourinary malignancies. Clear cell adenocarcinoma of the urethra (CCAU) occurs more infrequently, accounting for 0.003% of malignancies of the female urogenital tract. Definitive clinical diagnosis of CCAU is difficult and must be differentiated from tumors of the vagina. Currently, there is limited understanding of the causes of CCAU and there is no established standard of care for treatment. Immunohistochemistry and pathologic analysis can be used to identify the origin of the tumor.

| S-EPMC5991334 | biostudies-literature

POLE-mutated clear cell cervical cancer associated with in-utero diethylstilbestrol exposure.

Project description:We report an extraordinary case of a woman, exposed to diethylstilbestrol in utero, who developed clear cell adenocarcinoma of the cervix with a concurrent polymerase-? (POLE) somatic mutation. The tumor exhibited the classic phenotypic characteristics of POLE-mutated tumors originating from other organs (e.g. the uterus or the colon) including increased tumor infiltrating lymphocytes and high PD-L1 expression and has remained in remission since completion of primary therapy for >4?years. This case highlights the importance of next generation sequencing in unraveling the biology of rare tumors and supports that the presence of a POLE mutation and the associated ultramutated state confers a unique phenotype of higher immunogenicity and possibly improved prognosis in a tissue-agnostic manner, i.e. regardless of the type of cancer where the POLE mutation is present.

| S-EPMC6357694 | biostudies-literature

Thymic adenocarcinoma accompanied by type A thymoma and pulmonary minimally invasive adenocarcinoma and harboring distinct gene alterations: A case report.

Project description:RationaleThymic adenocarcinoma is an extremely rare thymic carcinoma. The exact genetic alteration associated with thymic adenocarcinoma is unclear. Here, we report a case of thymic adenocarcinoma accompanied by type A thymoma and pulmonary minimally invasive adenocarcinoma (MIA).Patient concernsA 53-year-old woman presented with multiple nodules in the mediastinum and lung. Thoracic computed tomography revealed nodules in the anterior superior mediastinum and anterior mediastinum near the right pericardium and ground-glass opacity (GGO) in the right superior lobe of the lung.DiagnosisThe tumor in the anterior superior mediastinum was diagnosed as primary thymic papillary adenocarcinoma. The tumor in the anterior mediastinum near the right pericardium was diagnosed as type A thymoma. The GGO of the right superior lobe of the lung was diagnosed as a MIA.InterventionThe patient underwent thoracoscopic mediastinal tumor resection and partial lobectomy in our hospital.OutcomesThe postoperative course was uneventful. The patient is alive and free of the disease for 22 months after diagnosis.LessonsThyroid transcription factor 1 (TTF-1) was positive in this case of thymic adenocarcinoma, which indicated that a thymic adenocarcinoma with TTF-1-positive may not necessarily be a metastasis of lung or thyroid adenocarcinoma. The positive staining of CD5 and CD117 can help us to confirm the thymic origin. Molecular genetic analysis indicated that these tumors harbored different mutations. The thymic adenocarcinoma and type A thymoma both had the mutation of KMT2A, but the mutation sites were different. KMT2A mutation may be a common genetic change in thymic tumorigenesis. The genetic alterations disclosed in this study will help expand the understanding of thymic tumors.

| S-EPMC8052068 | biostudies-literature

Prenatal exposure to diethylstilbestrol has long-lasting, transgenerational impacts on fertility and reproductive development.

Project description:Significant decreases in fertility have been observed over the past 50 years, with female conception rates dropping by 44% and male sperm counts decreasing by over 50%. This dramatic decrease in fertility can be attributed in part to our increasing exposure to endocrine disrupting chemicals (EDCs). Diethylstilbestrol (DES) is an estrogenic EDC that was prescribed to millions of pregnant women between 1940 and 1970 and resulted in detrimental reproductive effects in the offspring that were exposed in utero. Women who were exposed to DES in utero experienced higher rates of infertility, pregnancy complications, and reproductive cancers. Alarmingly, there is evidence to suggest that these effects may persist in the grandchildren and great grandchildren of exposed women. To define the transgenerational reproductive impacts in females following exposure to DES, gestating mice were exposed to DES and the effects monitored in the female descendants across 3 generations. There was a trend for reduced pregnancy rate and fertility index seen across the generations and moreover, the anogenital distance (AGD) was significantly reduced up until the third, unexposed generation. The onset of puberty was also significantly affected, with the timing of vaginal opening occurring significantly earlier in DES descendants. These results indicate a transgenerational effect of DES on multiple reproductive parameters including fertility, timing of puberty, and AGD. These data have significant implications for more than 50 million DES descendants worldwide as well as raising concerns for the ongoing health impacts caused by exposures to other estrogenic EDCs which are pervasive in our environment.

| S-EPMC10464516 | biostudies-literature

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by <i>de novo CALM2</i> mutation.

Project description:We herein report what appears to be the first case of fetal non-compaction cardiomyopathy in both ventricles accompanied by a mutation in the calmodulin gene (CALM2). A 25-year-old woman was referred to our hospital at 25+1 weeks of gestation for evaluation of fetal defects. Prenatal echocardiography showed biventricular non-compaction cardiomyopathy with sinus bradycardia. After termination of the pregnancy, fetal biventricular non-compaction cardiomyopathy was confirmed by autopsy and histopathologic examination. Additionally, whole-exome sequencing of genomic DNA demonstrated a de novo heterozygous mutation (c.389A > G; p.D130G) in CALM2, whereas the parents were normal. In this case report, we highlight the importance of prenatal ultrasound and genetic testing in fetal non-compaction cardiomyopathy with arrhythmia.

| S-EPMC9727144 | biostudies-literature

Diethylstilbestrol induces vaginal adenosis by disrupting SMAD/RUNX1-mediated cell fate decision in the Mullerian duct epithelium.

Project description:Women exposed to diethylstilbestrol (DES) in utero frequently develop vaginal adenosis, from which clear cell adenocarcinoma can arise. Despite decades of extensive investigation, the molecular pathogenesis of DES-associated vaginal adenosis remains elusive. Here we report that DES induces vaginal adenosis by inhibiting the BMP4/Activin A-regulated vaginal cell fate decision through a downregulation of RUNX1. BMP4 and Activin A produced by vaginal mesenchyme synergistically activated the expression of ΔNp63, thus deciding vaginal epithelial cell fate in the Müllerian duct epithelial cells (MDECs) via direct binding of SMADs on the highly conserved 5' sequence of ΔNp63. Therefore, mice in which Smad4 was deleted in MDECs failed to express ΔNp63 in vaginal epithelium and developed adenosis. This SMAD-dependent ΔNp63 activation required RUNX1, a binding partner of SMADs. Conditional deletion of Runx1 in the MDECs induced adenosis in the cranial portion of vagina, which mimicked the effect of developmental DES-exposure. Furthermore, neonatal DES exposure downregulated RUNX1 in the fornix of the vagina, where DES-associated adenosis is frequently found. This observation strongly suggests that the downregulation of RUNX1 is the cause of vaginal adenosis. However, once cell fate was determined, the BMP/Activin-SMAD/RUNX1 signaling pathway became dispensable for the maintenance of ΔNp63 expression in vaginal epithelium. Instead, the activity of the ΔNp63 locus in vaginal epithelium was maintained by a ΔNp63-dependent mechanism. This is the first demonstration of a molecular mechanism through which developmental chemical exposure causes precancerous lesions by altering cell fate.

| S-EPMC3947918 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data