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Annals of Medicine and Surgery (2012) Jun 2023Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome also known as the Herlyn-Werner-Wunderlich Syndrome is a rare embryological disorder associated...
UNLABELLED
Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome also known as the Herlyn-Werner-Wunderlich Syndrome is a rare embryological disorder associated with Mullerian and mesonephric duct abnormality.
CASE PRESENTATION
The cases presented describe the imaging (ultrasound and MRI) findings of four young females who presented with dysmenorrhea and urinary complaints. All of them had solitary kidneys with a didelphic uterus and unilateral hematometrocolpos. A proximally blind-ending ureter with distal ectopic insertion, transverse vaginal septum, and left-sided endometrioma was seen.
CLINICAL DISCUSSION
OHVIRA syndrome is associated with duplicated uterovaginal structure with OHVIRA. Ultrasound is the first line of investigation; however, MRI better delineates the anatomy and assists in preoperative planning.
CONCLUSION
This report highlights that earlier clinical suspicion and imaging diagnosis of OHVIRA is crucial to prevent adverse outcomes and treating complications.
PubMed: 37363484
DOI: 10.1097/MS9.0000000000000904 -
Experimental and Therapeutic Medicine Apr 2021Malignant mixed mesonephric tumours (MMMsT) of the female genital tract are extremely rare, and the majority are located in the wall of the cervix uteri. At present,...
Cervical malignant mixed mesonephric tumour: A case report with local recurrence after six-years and next-generation sequencing analysis with particular reference to the ataxia telangiectasia mutated gene.
Malignant mixed mesonephric tumours (MMMsT) of the female genital tract are extremely rare, and the majority are located in the wall of the cervix uteri. At present, there are no reports of the molecular characterisation of MMMsT of the female genital tract. Herein, we report the morphological, immunohistochemical and molecular features of this rare malignancy using next-generation sequencing (NGS) analysis. A 58-year-old woman presented with vaginal bleeding. In 2013, she had been diagnosed with a cervical carcinosarcoma of probable mesonephric origin and International Federation of Gynaecology and Obstetrics (FIGO) stage IB that had been treated by total hysterosalpingo-oopherectomy without adjuvant chemo-radiotherapy. Ultrasonography showed a vaginal mass measuring 25 mm in the maximum dimension. Biopsy was performed and showed a biphasic neoplasm composed of adenocarcinoma and sarcoma. Immunohistochemistry showed positive staining for epithelial membrane antigen (EMA), pancytokeratin (MNF116), paired box 8 (PAX-8), β-catenin, cytokeratin 7, cyclin D1, GATA3 and CD10. Androgen receptor positivity was detected in very limited areas. Cytokeratin 20, carcinoembryonic antigen (CEA), oestrogen receptor (ER), progesterone receptor (PR), transcription termination factor 1 (TTF1), Wilm's tumour antigen-1 (WT-1), calretinin and p16 were negative. The immunohistochemical profile was consistent with mesonephric origin. NGS analysis identified a variant of the ataxia-telangiectasia mutated () gene (p.Phe858Leu; c.2572 T>C; COSM21826). The number of detected allele frequency reads of mutation following clinical relapse was higher, compared to its baseline: 65 vs. 96%. The differential diagnosis of MMMsT includes mesonephric hyperplasia, malignant mixed Mullerian tumour (carcinosarcoma), endometrioid adenocarcinoma and endometrial stromal sarcoma. The clinical significance of the observed variant in the case reported herein is unknown. The present findings need further verification, as the mutation in may result in chemotherapy resistance or conversely, may be exploited for targeted therapies.
PubMed: 33680116
DOI: 10.3892/etm.2021.9825 -
Diagnostic Pathology Mar 2023Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonads or to the mesonephric derivatives. There is no... (Review)
Review
BACKGROUND
Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonads or to the mesonephric derivatives. There is no obvious causality between SGF and testicular neoplasm. However, cryptorchidism, which is a well-known risk factor of testicular germ cell tumors, are the most frequent malformations associated with SGF. To our knowledge, there are only four reported cases of SGF associated with testicular neoplasm so far. Herein, we reported a patient of this condition, and briefly reviewed the related literature.
CASE PRESENTATION
A 48-year-old man was diagnosed with bilateral cryptorchidism 30 years prior, and only underwent a right orchiopexy for the left testicle could not be explored during the operation. At that time, doctors failed to realize the possibility of SGF due to the lack of sufficient knowledge of this condition. This time, the patient was treated for a left abdomen mass that was diagnosed as stage III metastatic seminoma. Then, a right orchiectomy, robot-assisted laparoscopic left retroperitoneal tumor resection, and left retroperitoneal lymph node dissection was performed after four cycles of BEP (bleomycin + etoposide + cisplatin) systemic chemotherapy in our center. The final diagnosis of SGF was made by postoperative pathology. The patient was re-examined in our center at 3 months and 6 months after the operation, and no obvious abnormalities were found.
CONCLUSIONS
Surgeons should always bear in mind the possibility of association between bilateral cryptorchidism and splenogonadal fusion to avoid malignant transformation caused by delayed treatment.
Topics: Humans; Cryptorchidism; Male; Middle Aged; Seminoma; Antineoplastic Combined Chemotherapy Protocols; Orchiectomy; Splenic Diseases; Testicular Neoplasms; Gonads; Spleen; Treatment Outcome
PubMed: 36998078
DOI: 10.1186/s13000-023-01332-w -
International Journal of Gynecological... Mar 2023Ovarian combined serous borderline tumor/low-grade serous carcinomas (SBT/LGSC) and mesonephric-like adenocarcinomas (MLA) have been previously reported and the presence...
Ovarian combined serous borderline tumor/low-grade serous carcinomas (SBT/LGSC) and mesonephric-like adenocarcinomas (MLA) have been previously reported and the presence of identical oncogenic somatic mutations in both components supports the concept that at least some of MLAs arise from a Müllerian origin. We report 2 cases of ovarian combined SBT/LGSC and mesonephric-like lesion. Case 1 was a 70-yr-old woman presented with a liver lesion and omental carcinomatosis. Histologic examination revealed biphasic tumors in bilateral ovaries consisting of conventional SBT and invasive MLA with extraovarian spread. The right ovary also had a component of cribriform variant of SBT/noninvasive LGSC. The SBT/LGSC component was diffusely positive for Pax8, WT-1, and ER, focally positive for PR, and negative for GATA3, while the MLA component was diffusely positive for GATA3 but negative for WT-1, ER, and PR. Molecular analysis revealed a KRAS G12V mutation in both the SBT/LGSC and MLA components, indicating their clonal origin. Case 2 was a 58-yr-old woman who presented with conventional type SBT in both ovaries. In addition, the left ovarian tumor demonstrated a few areas (each <5 mm) of mesonephric-like differentiation/hyperplasia in close proximity to the serous-type epithelium, with an immunophenotype of focal GATA3 expression, luminal pattern of CD10 staining and negative WT-1, ER, and PR staining. This phenomenon has been reported in endometrioid borderline tumor but not in any serous type lesions. The findings in case 1 provide further evidence to demonstrate the clonal relationship between these morphologically and immunophenotypically distinct components. It also supports the theory that, unlike cervical mesonephric carcinomas originating from mesonephric remnants, MLAs are derived from a Müllerian-type lesion with differentiation into mesonephric lineage. The presence of a hyperplastic mesonephric-like lesion/differentiation in case 2 indicates that a precursor lesion in the same lineage with the potential to develop into MLA exists in the ovary.
Topics: Female; Humans; Ovarian Neoplasms; Carcinoma; Mesonephros; Epithelium; Hyperplasia; Cystadenocarcinoma, Serous
PubMed: 35348533
DOI: 10.1097/PGP.0000000000000868 -
BMJ Case Reports Jan 2021Congenital malformations of the seminal vesicles (SVs) are rare and are associated with abnormalities of the ipsilateral urinary tracts as embryologically both the...
Congenital malformations of the seminal vesicles (SVs) are rare and are associated with abnormalities of the ipsilateral urinary tracts as embryologically both the ureteral buds and SVs arise from the mesonephric ducts. The triad of SV cysts, ipsilateral renal agenesis and ejaculatory duct obstruction is known as the Zinner syndrome. We, herein, present three very rare presentations of Zinner syndrome. Case 1 presented with haematuria, and was found to have a large SV cyst with stones and underwent a robotic cyst excision. Case 2 presented with primary infertility, and was found to have a variant of Zinner syndrome. Case 3 was a known case of chronic kidney disease on maintenance haemodialysis who presented with fever and oliguria. He was found to have Zinner syndrome and underwent aspiration of SV abscess. To the best of our knowledge, such varying presentations of Zinner syndrome have been rarely reported thus far.
Topics: Adult; Congenital Abnormalities; Ejaculatory Ducts; Humans; Kidney; Kidney Diseases; Male; Middle Aged; Seminal Vesicles; Syndrome; Young Adult
PubMed: 33462046
DOI: 10.1136/bcr-2020-239254 -
Journal of the American Society of... Apr 2021Although zebrafish embryos have been used to study ciliogenesis and model polycystic kidney disease (PKD), adult zebrafish remain unexplored.
BACKGROUND
Although zebrafish embryos have been used to study ciliogenesis and model polycystic kidney disease (PKD), adult zebrafish remain unexplored.
METHODS
Transcription activator-like effector nucleases (TALEN) technology was used to generate mutant for , the homolog of the mammalian causative gene for Meckel syndrome type 3 (MKS3). Classic 2D and optical-clearing 3D imaging of an isolated adult zebrafish kidney were used to examine cystic and ciliary phenotypes. A hypomorphic strain or rapamycin was used to inhibit mTOR activity.
RESULTS
Adult zebrafish developed progressive mesonephric cysts that share conserved features of mammalian cystogenesis, including a switch of cyst origin with age and an increase in proliferation of cyst-lining epithelial cells. The mutants had shorter and fewer distal single cilia and greater numbers of multiciliated cells (MCCs). Absence of a single cilium preceded cystogenesis, and expansion of MCCs occurred after pronephric cyst formation and was inversely correlated with the severity of renal cysts in young adult zebrafish, suggesting a primary defect and an adaptive action, respectively. Finally, the mutants exhibited hyperactive mTOR signaling. mTOR inhibition ameliorated renal cysts in both the embryonic and adult zebrafish models; however, it only rescued ciliary abnormalities in the adult mutants.
CONCLUSIONS
Adult zebrafish mutants offer a new vertebrate model for renal cystic diseases, in which cilia morphology can be analyzed at a single-nephron resolution and mTOR inhibition proves to be a candidate therapeutic strategy.
PubMed: 33574160
DOI: 10.1681/ASN.2020070991 -
Cancer Reports (Hoboken, N.J.) Jan 2024Mesonephric carcinoma (MC) is a very rare tumor with less than 70 cases had been reported. The rarity of MC has restricted its research, resulting in the lack of...
Identification of characteristics and construction of nomogram to predict the survival probability of mesonephric carcinoma patients: A population-based analysis and a case report.
BACKGROUND
Mesonephric carcinoma (MC) is a very rare tumor with less than 70 cases had been reported. The rarity of MC has restricted its research, resulting in the lack of published guidelines.
OBJECTIVE
To summarize the characteristics and construct an external-validated nomogram to predict the survival of MC patients.
METHOD
Sixty-four qualified patients derived from the Surveillance, Epidemiology, and End Results Plus database, and one patient from the Guangzhou Red Cross Hospital were enrolled. The entire cohort was randomly divided into a development (70%) and a validation cohort (30%). The Kaplan-Meier method and univariate and multivariate Cox regression analyses were applied. Two nomograms were established to predict the 3-to-8-year survival probability of MC patients, which were evaluated by C-index, ROC curves, DCA curves, and calibration plots.
RESULTS
The average survival time of MC patients was 84.22 ± 50.66 months. No significant difference was shown among different groups of race, primary site, tumor differentiated grade, and FIGO stages, while different SEER stages did distinguish patients' survival time, which indicated that the SEER stage standards might be a better staging system in the MC patients than FIGO stage (p = .0835). Additional survival analyses showed that MC patients benefited from shorter waiting times to begin treatment, accepting surgery, regional lymph node examination, radiotherapy, and chemotherapy. Two nomograms were established, both of which got satisfied scores in C-index, ROC curves, DCA curves, and calibration plots.
CONCLUSION
Sufficient regional lymph nodes examined, and applying radiotherapy in high-risk patients are recommended in MC patients. Nomograms established in the present study had good predicting and discriminating capabilities, which would be helpful in patients' individual risk estimation, management, counseling, and follow-up.
Topics: Humans; Nomograms; Databases, Factual; Lymph Nodes; Carcinoma
PubMed: 38030392
DOI: 10.1002/cnr2.1940 -
Radiology Case Reports May 2022Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly of female urogenital tract involving combined mullerian duct anomalies and mesonephric duct...
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly of female urogenital tract involving combined mullerian duct anomalies and mesonephric duct malformation characterized by uterus didelphys, obstructed hemi-vagina and ipsilateral renal agenesis which is also known as OHVIRA syndrome. It can be classified based on a completely or incompletely obstructed hemivagina. It presents soon after menarche or shows delayed presentation depending on the type. The most common presentation is lower abdominal pain, dysmenorrhea, and abdominal mass in the lower abdomen secondary to hematometra or hematocolpos. We present a 15-year-old unmarried patient with an unusual case of OHVIRA syndrome suffering from dysmenorrhea and painful mass in suprapubic region. We described the role of imaging modalities in diagnosis of the Herlyn-Werner Wunderlich syndrome with a review of literature. On USG and MRI, she had right renal agenesis with compensatory hypertrophy of the left kidney, didelphic uterus with an obstructed hemi-vagina on right side which led to marked distention of ipsilateral cervix and proximal vagina in the form of hematometrocolpos. OHVIRA syndrome can present early or late, depending on the type. In patients with uterine and vaginal abnormalities, a work-up for associated renal anomalies should be performed. The choice imaging modalities for the diagnosis of OHVIRA syndrome are ultrasound and MRI. Knowing the imaging findings of this rare condition is crucial for early diagnosis in order to prevent complications which may lead to endometriosis and infertility.
PubMed: 35265236
DOI: 10.1016/j.radcr.2022.02.017 -
Cureus Sep 2022Zinner syndrome is a rare congenital triad of mesonephric duct abnormality encompassing unilateral renal agenesis or dysgenesis, ipsilateral seminal vesicle cyst, and...
Zinner syndrome is a rare congenital triad of mesonephric duct abnormality encompassing unilateral renal agenesis or dysgenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction. Literature has reported 214 cases, with the most common presentation being lower urinary tract symptoms and abdominal pain. Most cases are incidentally diagnosed, and MRI has been the choice of radiological diagnosis. We report the case of an 81-year-old male who presented with a three-month history of a fungating elbow lesion, elbow pain, and weight loss. Imaging revealed an ipsilateral seminal vesicle cyst, absent kidney, and ejaculatory duct obstruction, i.e., Zinner syndrome with bone metastasis. A bone biopsy revealed a urothelial primary, and cyst aspiration and cytology revealed spermatozoa and malignant cells representing an adenocarcinoma. This patient was managed with symptom control, radiotherapy to the elbow, and palliative chemotherapy, but later succumbed to the condition.
PubMed: 36237803
DOI: 10.7759/cureus.28949 -
World Journal of Clinical Cases Jun 2021Mesonephric adenocarcinoma (MNAC) is an extremely rare malignancy in the female genital tract. Only a few cases have been reported in the literature, and most of them...
BACKGROUND
Mesonephric adenocarcinoma (MNAC) is an extremely rare malignancy in the female genital tract. Only a few cases have been reported in the literature, and most of them occurred in the cervix, with extremely rare cases in the uterine body and ovary. MNAC has never been reported to arise in the fallopian tube.
CASE SUMMARY
A 45-year-old woman was referred to our institution with a history of abdominal pain. Ultrasound revealed a cystic and solid mass in left adnexal region. The patient underwent complete staging surgery when intraoperative pathological examination demonstrated that the mass was malignant. The final histological and immunohistochemical results confirmed the diagnosis of MNAC originating from the fallopian tube. Then she received four cycles of combination chemotherapy with carboplatin plus paclitaxel. The tumor recurred with hepatic metastases 4 mo after initial surgery, and second resection of the tumors in the liver plus partial hepatectomy was performed. She was supplemented with five courses of a new combination chemotherapy with gemcitabine plus carboplatin, and there was no evidence of recurrence within the 22-mo follow-up period after the second surgery.
CONCLUSION
MNAC originating from the fallopian tube is an extremely rare and high malignancy with a poor prognosis. It can be very aggressive, even at early stage. Little is known about the clinical characteristics, pathological diagnosis, prognosis, and optimal management strategy of MNAC originating from the fallopian tube. Herein we report the first case of primary MNAC deriving from the fallopian tube.
PubMed: 34222441
DOI: 10.12998/wjcc.v9.i18.4741