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JNMA; Journal of the Nepal Medical... Jun 2022Obstructed hemivagina and ipsilateral renal anomaly syndrome also known as Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by...
UNLABELLED
Obstructed hemivagina and ipsilateral renal anomaly syndrome also known as Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by Mullerian duct anomalies associated with mesonephric duct anomalies. A 10-year old female presented with acute lower abdominal pain, urinary retention and scanty menstrual flow during her first menstruation. Ultrasonography and contrast computed tomography showed uterine didelphys, hematocolpos, obstructed hemivagina and left renal agenesis. Hemivaginal septal resection and drainage of the hematocolpos were done and operative findings also confirmed the final diagnosis. She was discharged and followed up after 2 weeks and her symptoms had resolved completely. Being a rare entity many clinicians and radiologists are unaware of this disease so this may lead to misdiagnosis whenever these cases present. So strong suspicion and knowledge of this disease entity are essential for a precise diagnosis.
KEYWORDS
case reports; hematocolpos; mullerian ducts; unilateral renal agenesis.
Topics: Abnormalities, Multiple; Child; Congenital Abnormalities; Female; Hematocolpos; Humans; Kidney; Kidney Diseases; Syndrome; Urogenital Abnormalities; Uterus; Vagina
PubMed: 35690980
DOI: 10.31729/jnma.7444 -
Biomedicines Apr 2022Pannexins are transmembrane glycoproteins that constitute channels involved in purinergic signaling through ATP release from cells in various physiological and...
Pannexins are transmembrane glycoproteins that constitute channels involved in purinergic signaling through ATP release from cells in various physiological and pathological processes. In this study, the distribution of Panx1 expression in different cell populations of healthy postnatal human kidneys and during human embryonic and early fetal development was investigated by double immunohistochemistry. In addition, the glomerular and tubular expression of Panx1 was examined in patients with type 2 diabetes mellitus (DM2) and the control group, and renal Panx1 expression was correlated with serum creatinine. In the 6th week of embryonic development (DW), Panx1 expression was found in mesonephric glomeruli and mesonephric tubules. At the transition from 6th to 7th DW, Panx1 immunoreactivity was found in the mesonephric tubules and mesonephric duct, as well as in the metanephric ureteric bud and ampullae. In the 7th DW, strong Panx1 immunoreactivity was observed in the developing ureteric bud in the metanephros, whereas no Panx1 immunoreactivity was found in the metanephric cup. In the 8th DW, Panx1 expression was also found in the ureteric bud of the metanephros, the renal vesicle and comma-shaped nephron, and the epithelial cells of Bowman's capsule. Expression of Panx1 was found at an early stage in both the paramesonephric duct and the mesonephric duct and diminished toward the 8th DW. During the 6th-10th DW, colocalization of Panx1 with alpha smooth actin (aSMA) was found in developing blood vessels. In the postnatal kidney, strong Panx1 immunoreactivity was present in medullary and cortical collecting duct cells, renin-producing cells, and proximal tubules. Very weak Panx1 immunoreactivity was found in certain distal tubule cells and the thin descending limbs of the loop of Henle. Panx1 immunoreactivity was also found in nephrin-immunoreactive podocytes. Panx1 was not colocalized with aSMA immunoreactivity in the vessels of the postnatal human kidney, but it was present in the endothelium. A significant positive correlation was found between Panx1 expression in glomeruli and serum creatinine only in diabetic patients and was not found in the nondiabetic group. The spatiotemporal expression of Panx1 during the early stages of human kidney development supports its possible role in cellular differentiation, migration, and positioning in the developing human kidney. In addition, our data suggest that glomerular Panx1 expression is a potential indicator of worsening renal function in patients with type 2 diabetes.
PubMed: 35625681
DOI: 10.3390/biomedicines10050944 -
Urology Case Reports Jul 2022Primary mesonephric adenocarcinoma of the bladder is a very rare lesion. Only 9 cases have been reported since 1968, when it was first described. Due to its...
Primary mesonephric adenocarcinoma of the bladder is a very rare lesion. Only 9 cases have been reported since 1968, when it was first described. Due to its morphological diversity and variable immunohistochemical profile, mesonephric adenocarcinoma presents a diagnostic challenge, especially when seen in male patients, due to the rarity this entity in men. Here we present a rare case of a 63-year-old man who was found to have a bladder tumor and diagnosed with mesonephric adenocarcinoma of the bladder.
PubMed: 35520026
DOI: 10.1016/j.eucr.2022.102096 -
Radiology Case Reports Jun 2022Splenogonadal fusion is a rare, frequently misdiagnosed, congenital anomaly in which the splenic tissue is abnormally attached to the gonadal or mesonephric remnants. It...
Splenogonadal fusion is a rare, frequently misdiagnosed, congenital anomaly in which the splenic tissue is abnormally attached to the gonadal or mesonephric remnants. It is commonly found as an incidental finding at autopsy, during orchiopexy or hernia repair. However, it can present as a testicular mass or as an acute scrotal pathology such as testicular torsion or epididymoorchitis. It poses as a diagnostic challenge preoperatively and often leads to unnecessary orchiectomy. We present a case of a 15-year-old male who presented with a long-standing left testicular mass thought to be a testicular tumor. Resection of the lesion along with partial left orchiectomy was done and histopathologic evaluation revealed splenogonadal fusion.
PubMed: 35496753
DOI: 10.1016/j.radcr.2022.01.065 -
Radiology Case Reports Jun 2022Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys,...
Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys, unilateral blind hemivagina and ipsilateral renal agenesis. Hemivaginal obstruction usually leads to impairment of normal menstrual flow, resulting in symptoms after menarche, namely dysmenorrhea, pelvic pain or infertility. Age of presentation depends on the anatomical features of this anomaly. We report a case of a 21-year-old female presenting with few symptoms and incidental findings on transvaginal ultrasound, with typical findings of this disorder on magnetic resonance imaging, which remains the gold standard imaging technique for thorough assessment of Herlyn-Werner-Wunderlich syndrome, allowing for a correct diagnosis and adequate surgical management. Our case also highlights some unusual features, such as the presence of a blind ectopic ureter, with hematic content, and an incomplete septum within the obstructed hemivagina.
PubMed: 35432671
DOI: 10.1016/j.radcr.2022.03.064 -
The American Journal of Surgical... Aug 2022The literature indicates that mesonephric carcinoma (MC) and mesonephric-like adenocarcinoma (MLA) typically lack mucinous and squamous features/differentiation. We...
The literature indicates that mesonephric carcinoma (MC) and mesonephric-like adenocarcinoma (MLA) typically lack mucinous and squamous features/differentiation. We report 4 cases of ovarian mucinous tumors (1 mucinous cystadenofibroma and 3 mucinous borderline tumors/atypical proliferative mucinous tumors [MBT/APMT]) co-existing with mesonephric-like lesions which were highlighted by Gata3 and Pax8 expression. All cases contained benign mesonephric-like proliferations (MLP) which focally displayed gastrointestinal-type mucinous metaplasia/differentiation and some were intimately admixed with mucinous glands associated with the mucinous tumor. Metaplastic mucinous epithelium retained expression of Gata3 and Pax8 in some areas while 1 mucinous cystadenofibroma and 1 MBT/APMT were focally positive for Pax8. Along with these mesonephric components, case 1 exhibited features of mesonephric hyperplasia and in 2 cases, 3 and 4, MLA was identified. In case 4, a KRAS c.35G>T (p.Gly12Val) somatic mutation was detected in both the MBT/APMT and the MLA, indicating a clonal origin. This same mutation was also detected in the benign MLP, indicating that it was likely an early genetic event. A CTNNB1 c.98C>T (p.Ser33Phe) somatic mutation, FGFR2 amplification, and CDKN2A/p16 deletion were only detected in the MLA but not in the MBT/APMT. Our result provides evidence to demonstrate the clonal relationship between these morphologically distinct components. Although speculative, we postulate that benign MLPs may give rise to lineage-specific mucinous and mesonephric-like lesions and propose that the MLPs are a new possible origin of some ovarian mucinous tumors. Whether these MLPs arise through transdifferentiation of Müllerian tissue or represent true mesonephric remnants, however, remains largely unknown.
Topics: Adenocarcinoma; Biomarkers, Tumor; Cell Proliferation; Cystadenofibroma; Female; Humans; Ovarian Neoplasms
PubMed: 35405716
DOI: 10.1097/PAS.0000000000001903 -
Journal of Cancer Research and... 2022Mesonephric carcinoma is a rare type of carcinoma seen in the female genital tract. It arises from the mesonephric remnants situated in the broad ligament, lateral wall... (Review)
Review
Mesonephric carcinoma is a rare type of carcinoma seen in the female genital tract. It arises from the mesonephric remnants situated in the broad ligament, lateral wall of the cervix, vagina, and uterine corpus. Very few cases of mesonephric carcinoma have been reported so far in the literature. The sites mentioned in various literatures include the cervix, vagina, or uterus, but we could not find any literature that mentions posthysterectomy vault as a site for mesonephric carcinoma. Here, we report a case of 40-years-old hysterectomised female who presented in the hospital with nodular growth on the vault and complaints of bleeding per vaginum. Microscopy of the lesion did not show typical morphology of mesonephric carcinoma, but immunohistochemistry played a vital role in the diagnosis of this rare tumor.
Topics: Adenocarcinoma; Adult; Carcinoma; Cervix Uteri; Female; Humans; Hysterectomy; Immunohistochemistry; Uterine Cervical Neoplasms
PubMed: 35381800
DOI: 10.4103/jcrt.JCRT_168_19 -
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 -
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 -
Diagnostics (Basel, Switzerland) Jan 2022Mesonephric-like adenocarcinoma (MLA) arising in the ovary is a rare malignant tumor of the female genital tract. Although the clinicopathological and molecular...
Mesonephric-like adenocarcinoma (MLA) arising in the ovary is a rare malignant tumor of the female genital tract. Although the clinicopathological and molecular characteristics of uterine MLA have been accumulated, those of ovarian MLA have not been firmly clarified. In this study, we investigated the clinicopathological, immunohistochemical, and genetic features of five ovarian MLAs. A review of electronic medical records and pathology slides, immunostaining, and targeted sequencing was performed. On imaging, ovarian MLA presented as either a mixed solid and cystic mass or a purely solid mass. One, three, and one patient were diagnosed as having FIGO stage IA, IC, and II MLA, respectively. Four patients with stage IC-II tumor underwent post-operative adjuvant chemotherapy. Three of the four patients whose follow-up information was available did not experience recurrence. In contrast, the remaining patient with stage IA tumor who did not receive any adjuvant treatment developed multiple metastatic recurrences at post-operative 13 months. Histologically, ovarian MLAs characteristically displayed architectural diversity, compactly aggregated small tubules, and eosinophilic intraluminal secretions. Four tumors were found to be associated with endometriotic cysts. Two cases showed some areas of high-grade nuclear atypia, brisk mitotic activity, and necrosis. Immunohistochemically, all cases showed positive immunoreactivities for at least three of the four examined mesonephric markers (GATA3, PAX2, TTF1, and CD10), lack of WT1 expression, non-diffuse p16 immunoreactivity, and wild-type p53 immunostaining pattern. Targeted sequencing analysis revealed that all four examined cases harbored pathogenic mutations: p.G12V (2/4); p.G12D (1/4); and p.G12C (1/4). In addition, we reviewed the previous literature reporting 60 cases of ovarian MLA. Our findings corroborate those of the previous data regarding the clinical presentation, histological features, immunophenotypes, and molecular alterations. Our observations should encourage pathologists to recognize and accurately diagnose this rare but distinct entity.
PubMed: 35204416
DOI: 10.3390/diagnostics12020326