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The Journal of Urology Dec 2023We determined if serial screening ultrasounds are beneficial in evaluating for the development of Zinner syndrome in males with a congenital solitary kidney.
PURPOSE
We determined if serial screening ultrasounds are beneficial in evaluating for the development of Zinner syndrome in males with a congenital solitary kidney.
MATERIALS AND METHODS
All patients included had their congenital solitary kidney diagnosed at <20 years of age and had to be ≥20 at their last visit. Individuals were seen annually, with pelvic ultrasounds to screen for mesonephric duct cysts obtained at birth and every year of age, divisible by 5.
RESULTS
At a median follow-up of 38 years of age (range 20-57), 17% (20/121) developed Zinner syndrome, with 60% (12/20) developing clinical symptoms. The yield for screening ultrasound studies was significantly higher in patients ≤20 years of age at 3.5% (12/340), compared to 0.33% (1/296) in patients >20 years of age ( = .004). Serial ultrasounds reveal the onset of lower urinary tract and cyst-related pain symptoms are associated with the growth of the seminal vesicle cyst to ≥5 cm ( = .0198). Of symptomatic patients, 75% (8/12) had abnormal uroflows. Complete urodynamic studies revealed findings consistent with bladder outlet obstruction in 38% (3/8), equivocal for obstruction in 24% (2/8), and detrusor underactivity in 38% (3/8). Cyst excision effectively resolved voiding symptoms that were obstructive in etiology but failed to resolve symptoms in patients with detrusor underactivity.
CONCLUSIONS
Serial ultrasound evaluations reveal that cyst growth to ≥5 cm in size is highly related to the onset of clinical symptoms, with the resolution of voiding symptoms by cyst excision directly associated with urodynamic findings.
Topics: Male; Infant, Newborn; Humans; Child, Preschool; Solitary Kidney; Urinary Bladder, Underactive; Seminal Vesicles; Urinary Bladder; Cysts
PubMed: 37757896
DOI: 10.1097/JU.0000000000003700 -
Asian Journal of Surgery Dec 2023
Topics: Female; Humans; Adenocarcinoma; Endometrium
PubMed: 37730504
DOI: 10.1016/j.asjsur.2023.09.029 -
Journal of Cancer Research and Clinical... Nov 2023Mesonephric-like adenocarcinomas (MLA) of the female genital tract represent a rare and relatively recently described neoplasm exhibiting characteristic morphologic and... (Review)
Review
Mesonephric-like adenocarcinoma of the female genital tract: possible role of KRAS-targeted treatment-detailed molecular analysis of a case series and review of the literature for targetable somatic KRAS-mutations.
PURPOSE
Mesonephric-like adenocarcinomas (MLA) of the female genital tract represent a rare and relatively recently described neoplasm exhibiting characteristic morphologic and immunohistochemical findings commonly associated with a KRAS-mutation. Most cases display an aggressive clinical behavior, but knowledge about treatment approaches is limited, especially for targeting KRAS.
METHODS
We report a series of eight cases with a detailed molecular analysis for KRAS. These cases as well as the data of previously published cases with detailed information regarding KRAS-mutational events were reviewed for a potential targeted approach and its prognostic impact.
RESULTS
Both the uterine and ovarian MLA harbor a somatic KRAS-mutation in about 85% of the reported cases, affecting the hotspot codons 12 and 13. 15.7% of the endometrial and 15.6% of ovarian MLA are wild type for KRAS. A p.G12A-alteration was seen in 5.6% (5/89) of the endometrial and in 6.2% (2/32) of the ovarian tumors, for p.G12C in 7.9% and 6.2%, for p.G12D in 32.6% and 34.5% and for p.G12V in 36% and 37.5%, respectively. Very limited data are available regarding the prognostic impact of different mutational sites within the KRAS-gene without significant prognostic impact.
CONCLUSION
Because of a specific p.G12C-KRAS somatic mutation, only the minority of MLA (7.9% with uterine and 6.2% with ovarian primary) are potentially targetable by sotarasib in that rare but aggressive subtype of adenocarcinoma of the female genital tract. Until now, the different location of a somatic KRAS-mutation is of no prognostic impact.
Topics: Humans; Female; Proto-Oncogene Proteins p21(ras); Adenocarcinoma; Mutation; Prognosis; Genitalia, Female
PubMed: 37668797
DOI: 10.1007/s00432-023-05306-9 -
Current Medical Imaging Aug 2023Zinner's syndrome is a rare congenital malformation of the seminal vesicle and ipsilateral upper urinary tract caused by mesonephric duct developmental anomaly during...
BACKGROUND
Zinner's syndrome is a rare congenital malformation of the seminal vesicle and ipsilateral upper urinary tract caused by mesonephric duct developmental anomaly during early embryogenesis. This study aimed to demonstrate the significance of magnetic resonance imaging (MRI) in distinguishing pelvic cysts in males, given that MRI is the gold standard exam for confirming the diagnosis and managing therapy.
CASE REPORT
A 21-year-old male patient with a solitary kidney who had been diagnosed since birth presented with abdominal pain. Transabdominal and transrectal ultrasonography (US), computed tomography (CT), and MRI were performed. The contrast-enhanced MRI of the pelvis showed a tubular fluid-filled, macrolobulated lesion measuring 6 x 6 x 4 cm, mildly high signal intensity in the T2-weighted images, and slightly high signal intensity in the T1-weighted images, without contrast enhancement. The left kidney was hypoplasic. Imaging findings led to the diagnosis of Zinner's syndrome, and conservative treatment was planned.
DISCUSSION
Zinner's syndrome is characterized by a triad consisting of unilateral renal agenesis or hypoplasia, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction. MRI is the modality of choice for an impeccable depiction of the anatomy of the male genital tract, for demonstrating the seminal vesicles and evaluating anomalies of the mesonephric duct. It is also useful in distinguishing seminal vesicle cysts from other cystic pelvic masses.
CONCLUSION
Zinner's syndrome should be considered when diagnosing cystic pelvic masses in males with renal agenesis or hypoplasia. Because of its high soft tissue contrast resolution, MRI is the gold standard modality for confirming the diagnosis and assessing the cyst's origin and contents.
PubMed: 37649289
DOI: 10.2174/1573405620666230829150133 -
Biomedicines Aug 2023Data on genetic and immunophenotypical characteristics of uterine mesonephric-like adenocarcinoma (MLA) remain limited. Therefore, we aimed to investigate the...
Mesonephric-like Adenocarcinoma of the Uterine Corpus: Genomic and Immunohistochemical Profiling with Comprehensive Clinicopathological Analysis of 17 Consecutive Cases from a Single Institution.
Data on genetic and immunophenotypical characteristics of uterine mesonephric-like adenocarcinoma (MLA) remain limited. Therefore, we aimed to investigate the clinicopathological, immunohistochemical, and molecular features of uterine MLA. We performed targeted sequencing, array comparative genomic hybridization, and immunostaining in 17, 13, and 17 uterine MLA cases, respectively. Nine patients developed lung metastases. Eleven patients experienced disease recurrences. The most frequently mutated gene was Kirsten rat sarcoma viral oncogene homolog (; 13/17). Both the primary and matched metastatic tumors harbored identical (3/4) and phosphatase and tensin homolog deleted on chromosome 10 (1/4) mutations, and did not harbor any additional mutations. A total of 2 of the 17 cases harbored tumor protein 53 () frameshift insertion and deletion, respectively. Chromosomal gains were detected in 1q (13/13), 10 (13/13), 20 (10/13), 2 (9/13), and 12 (6/13). Programmed cell death-ligand 1 overexpression or mismatch repair deficiency was not observed in any of the cases. Initial serosal extension and lung metastasis independently predicted recurrence-free survival with hazard ratios of 6.30 and 7.31, respectively. Our observations consolidated the clinicopathological and molecular characteristics of uterine MLA. Both clinicians and pathologists should consider these features to make an accurate diagnosis of uterine MLA and to ensure appropriate therapeutic management of this rare entity.
PubMed: 37626765
DOI: 10.3390/biomedicines11082269 -
International Journal of Gynecological... May 2024Immunohistochemical markers shown to be useful in identifying/confirming mesonephric/mesonephric-like differentiation (MLD markers) include thyroid transcription factor...
Immunohistochemical markers shown to be useful in identifying/confirming mesonephric/mesonephric-like differentiation (MLD markers) include thyroid transcription factor (TTF1), GATA-binding protein 3 (GATA3), and cluster of differentiation 10 (CD10). Only a few studies have examined the expression levels of MLD markers in endometrial endometrioid carcinomas (EECs). This study aimed to analyze the frequency and pattern of MLD marker expression in low-grade EECs. We performed immunostaining for the detection of TTF1, GATA3, and CD10 expression in 50 low-grade EEC tissue samples and evaluated their staining proportion and intensity. Nine tumors (18.0%) expressed at least one MLD marker in varying proportions and intensities, and 2 of these tumors were positive for 2 MLD markers (TTF1/GATA3 and GATA3/CD10, respectively). Three (6.0%) tumors showed moderate-to-strong nuclear TTF1 immunoreactivity in ≤5% of the tumor cells. Five tumors (10.0%) had at least moderate nuclear GATA3 staining, and three of them displayed a staining proportion of ≥15%. Three tumors (6.0%) were focal (mean proportion, 15%) but strongly positive for CD10. Our findings indicate that a subset of EEC can express one or more MLD markers with varying staining proportions and intensities. Given that a diagnosis of uterine mesonephric-like adenocarcinoma should be established based on a combination of characteristic histologic features, unique immunophenotypes, and confirmed molecular findings, pathologists should not exclude EEC based only on the presence of focal immunoreactivity for MLD markers. Awareness of the atypical expression patterns of MLD markers in EEC helps pathologists avoid misdiagnosing EEC as a uterine mesonephric-like adenocarcinoma.
Topics: Female; Humans; Carcinoma, Endometrioid; Mesonephros; Uterus; Adenocarcinoma; Biomarkers, Tumor; Endometrial Neoplasms
PubMed: 37566876
DOI: 10.1097/PGP.0000000000000976 -
Case Reports in Women's Health Sep 2023Mesonephric-like adenocarcinomas are newly classified rare neoplasms of the upper genital tract. They share identical features with mesonephric adenocarcinomas, with the...
Mesonephric-like adenocarcinomas are newly classified rare neoplasms of the upper genital tract. They share identical features with mesonephric adenocarcinomas, with the exception of location. There is ongoing discussion on whether mesonephric-like adenocarcinomas arise from mesonephric remnants or are of Müllerian origin. A 65-year-old woman (G2P1) presented with pelvic pain. Transvaginal ultrasound revealed multiple fibroids, and a robotic total laparoscopic hysterectomy with bilateral salpingo-oophorectomy was planned. Intraoperatively, a complex mass with cystic and solid components was found on the left ovary, which also adhered to the rectosigmoid colon. Pathologic reports documented mesonephric-like adenocarcinoma that appeared to be arising in association with an endometrioid adenofibroma. This case is notable due to the patient's unique background of in-utero exposure to diethylstilbestrol (DES) and multiple gynecological malignancies within her mother, as well as the associated endometrioid adenofibroma. This case contributes evidence to two seemingly opposing theories of mesonephric-like adenocarcinoma histogenesis: the mesonephric remnant theory (supported by the patient's DES exposure), and the Müllerian theory (supported by the associated endometrioid adenofibroma).
PubMed: 37560022
DOI: 10.1016/j.crwh.2023.e00531 -
Scientific Reports Aug 2023Cadherin-16 (CDH16) plays a role in the embryonal development in kidney and thyroid. Downregulation of CDH16 RNA was found in papillary carcinomas of the thyroid. To...
Cadherin-16 (CDH16) plays a role in the embryonal development in kidney and thyroid. Downregulation of CDH16 RNA was found in papillary carcinomas of the thyroid. To determine the expression of CDH16 in tumors and to assess the diagnostic utility a tissue microarray containing 15,584 samples from 152 different tumor types as well as 608 samples of 76 different normal tissue types was analyzed. A membranous CDH16 immunostaining was predominantly seen in thyroid, kidney, cauda epididymis, and mesonephric remnants. In the thyroid, CDH16 staining was seen in 100% of normal samples, 86% of follicular adenomas, 60% of follicular carcinomas, but only 7% of papillary carcinomas (p < 0.0001). CDH16 positivity was frequent in nephrogenic adenomas (100%), oncocytomas (98%), chromophobe (97%), clear cell (85%), and papillary (76%) renal cell carcinomas (RCCs), various subtypes of carcinoma of the ovary (16-56%), various subtyped of carcinomas of the uterus (18-40%), as well as in various subtypes of neuroendocrine neoplasms (4-26%). Nineteen further tumor entities showed a weak to moderate CDH16 staining in up to 8% of cases. Our data suggest CDH16 as a potential diagnostic marker-as a part of a panel-for the identification of papillary carcinomas of the thyroid, nephrogenic adenomas, and the distinction of renal cell tumors from other neoplasms.
Topics: Male; Female; Humans; Carcinoma, Renal Cell; Immunohistochemistry; Thyroid Gland; Carcinoma, Papillary; Kidney Neoplasms; Carcinoma; Cadherins; Biomarkers, Tumor; Thyroid Neoplasms
PubMed: 37558687
DOI: 10.1038/s41598-023-39945-2 -
Journal of Clinical Medicine Jul 2023Mesonephric adenocarcinoma (MA) of the vagina is a rare tumor that arises from mesonephric remnants (Wolffian) in the female genital tract. It is a neoplasm with no... (Review)
Review
BACKGROUND
Mesonephric adenocarcinoma (MA) of the vagina is a rare tumor that arises from mesonephric remnants (Wolffian) in the female genital tract. It is a neoplasm with no significant evidence about its diagnosis, treatment, follow-up and prognosis.
METHODS
Systematic research of the literature was conducted in Scopus, PubMed/MEDLINE, ScienceDirect and the Cochrane Library, including observational prospective and retrospective studies, case series and case reports. We collected data regarding studies related to diagnosis and treatment options evaluating the following aspects: study design, population, treatment type, rate of surgical complications and fertility outcome. We further included a case report of laparoscopic management of MA with pictorial assays.
RESULTS
Thirteen cases of MA of the vagina are available in the literature, including our case report. The median age at diagnosis was 52 years old; the majority of patients reported vaginal bleeding as a symptom (38%); and ultrasound, followed by a magnetic resonance and CT scan were the diagnostic tools most used. In 54% of the cases, a surgical biopsy was performed, and 92% of the patients underwent upfront surgery with an open access or vaginal resection except one case fully managed by minimally invasive surgery. Most of the patients (68%) received adjuvant treatment with chemotherapy or radiotherapy or a combination of them. The mean follow-up period was 6 years.
CONCLUSIONS
Despite the rarity of this cancer and bizarre location, a minimally invasive approach seems feasible after multidisciplinary evaluation. According to the rarity of this tumor, any future case and follow-up data must be reported in the literature in order to enlarge the knowledge about it.
PubMed: 37510961
DOI: 10.3390/jcm12144846 -
Annales de Pathologie Nov 2023Mesonephric lesions in the female genital tract are uncommon and heterogeneous. Those deriving from the upper tract differ from those developing in the lower tract,... (Review)
Review
Mesonephric lesions in the female genital tract are uncommon and heterogeneous. Those deriving from the upper tract differ from those developing in the lower tract, based on their morphology and immunohistochemical profile. Carcinomas of mullerian origine may display the morphology, the immunoprofile and even the molecular abnormalities of those deriving from mesonephric remnants and are designated mesonephric-like carcinomas. These are high-grade lesions despite their well-differentiated glandular morphology (wolf in sheep's clothing). New entities, such as STK11 adnexal tumors, have merged recently and should not be confused with adnexal tumors of wolffian origin (FATWO), which have a better prognostic and outcome. In this review, we provide an overview of these lesions and their mimickers, in order to help pathologists in the diagnostic approach of these complex and rare neoplasms.
Topics: Female; Humans; Carcinoma; Genitalia, Female; Epithelium; Adenoma; Skin Neoplasms
PubMed: 37481413
DOI: 10.1016/j.annpat.2023.07.001