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Asian Journal of Surgery Jul 2023
Topics: Female; Humans; Uterine Cervical Neoplasms; Mesonephroma; Cervix Uteri; Adenocarcinoma
PubMed: 36841625
DOI: 10.1016/j.asjsur.2023.02.012 -
Modern Pathology : An Official Journal... Apr 2023Endometrial carcinoma (EC) can be divided into 4 prognostic molecular subtypes, and no specific molecular profile (NSMP) type is the most commonly occurring type...
Endometrial carcinoma (EC) can be divided into 4 prognostic molecular subtypes, and no specific molecular profile (NSMP) type is the most commonly occurring type (∼50%). Although described as having an intermediate to favorable prognosis, this subtype encompasses pathologically and molecularly diverse tumors. We aimed to identify factors associated with outcomes within the NSMP ECs that might be used to stratify prognosis and direct treatment. Clinicopathologic, immunohistochemical, and genetic features of a large series of NSMP EC were used to identify parameters that could identify the subset associated with a very favorable outcome (disease-specific death rate <5% at 5 years, termed low-risk NSMP). A total of 1110 NSMP ECs were profiled. In a univariate analysis, stage, grade, lymphovascular invasion, estrogen receptor (ER) and progesterone receptor (PR) expression, L1CAM overexpression, and mutations in PIK3CA were associated with disease-specific survival. Two critical features, grade and ER expression, identified a low-risk NSMP subset (grade 1-2, ER-positive [>1%], 84% of cases), which showed a 5-year disease-specific death rate of 1.6% across all stages and 1.4% within stage I. The remaining cases (high-risk NSMPs, grade 3, and/or ER-negative status) were responsible for most of the disease-specific deaths (disease-specific death rate at 5 years, 22.9%; hazard ratio compared with that of low-risk NSMPs: 16.3; 95% CI, 8.4-31.7). Within NSMP EC, the low-risk and high-risk categories were of prognostic significance independent of the stage on a multivariate analysis. Low-grade and ER-positive NSMP ECs are a homogeneous low-risk group associated with an exceptionally favorable prognosis in which de-escalation and/or endocrine therapy strategies can be applied. Grade 3 and/or ER-negative status identifies a high-risk NSMP subset, including rare high-grade histotypes (eg, clear cell, dedifferentiated, and mesonephric-like), responsible for most NSMP-related deaths. Subclassification of NSMPs allows for the category of low-risk EC molecular subtypes to be dramatically expanded because it now includes both POLEmut and the much more common low-risk NSMP EC.
Topics: Female; Humans; Receptors, Estrogen; Endometrial Neoplasms; Prognosis; Risk Factors; Biomarkers, Tumor; Carcinoma, Endometrioid
PubMed: 36788084
DOI: 10.1016/j.modpat.2022.100085 -
Modern Pathology : An Official Journal... Jan 2023Given the association of mesonephric adenocarcinoma (MA) of the uterine cervix with florid mesonephric hyperplasia, one would expect MAs to rarely arise in other...
Given the association of mesonephric adenocarcinoma (MA) of the uterine cervix with florid mesonephric hyperplasia, one would expect MAs to rarely arise in other anatomical locations that harbor mesonephric remnants. In contrast, mesonephric-like adenocarcinoma (MLA) is thought to arise from Müllerian origin without an association with mesonephric remnants. The current case series characterizes 4 cases of MA arising in the urinary bladder (1 woman and 3 men), 1 case of MA in the perirenal region (woman), and 1 case of MLA in the ureter (woman). All cases displayed morphologic features similar to MA of the uterine cervix and MLA of the ovary and endometrium, characterized by predominant tubular and focal glandular/ductal architecture. Mesonephric remnants in the bladder wall were closely associated with adjacent MA in cases 1 and 4. MLA in case 6 was associated with mesonephric-like proliferations and endometriosis. All cases (6/6) were diffusely positive for Pax8, and all displayed a luminal pattern of CD10 staining, except case 4 for which CD10 immunostain was not available for review. Gata3 was either focally positive (cases 1, 2, and 6), negative (case 3), or diffusely positive (case 5). TTF-1 was diffusely expressed in cases 1 and 3 and negative in cases 2, 5, and 6. Although a KRAS G12C somatic mutation was detected in case 6, hotspot mutations in KRAS, NRAS, and PIK3CA were not present in other tested cases. Our study demonstrates that MAs and MLAs of the urinary tract share similar histopathogenesis, morphology, and immunophenotype to their counterparts in the female genital tract. We propose that, in the urinary tract, MA might be classified as a distinctive tumor that arises from mesonephric remnants or presumed Wolffian origin if they are not related to Müllerian-type precursors. The tumor displaying similar morphology and immunoprofile to MA but associated with Müllerian-type precursors should be classified as MLA.
Topics: Male; Female; Humans; Uterine Cervical Neoplasms; Proto-Oncogene Proteins p21(ras); Adenocarcinoma; Mesonephroma; Urinary Tract
PubMed: 36788068
DOI: 10.1016/j.modpat.2022.100031 -
Applied Immunohistochemistry &... Mar 2023A subset of endometrial endometrioid carcinomas (EECs) with low-grade histology recur with poor outcomes. Published evidence suggests that poor outcomes may be...
A subset of endometrial endometrioid carcinomas (EECs) with low-grade histology recur with poor outcomes. Published evidence suggests that poor outcomes may be associated with loss of expression of ER-alpha (ER-α) as well as with β-Catenin-1 ( CTNNB1 ) and Kirsten rat sarcoma viral oncogene homolog ( KRAS ) mutations. This study reports on institutional experience with the incidence of recurrence in low-grade EEC and their association with CTNNB1 and KRAS mutations as well as estrogen/progesterone receptor (ER/PR) expression. Forty-eight (8.5%) out of 568 cases of low-grade EEC with biopsy-proven recurrence were identified; and were analyzed by immunohistochemistry for ER, PR, p53, MMR protein, and mutation analysis for exon 3 of the CTNNB1 and exon 2 of KRAS in relation to recurrence type, local or distant metastasis/recurrence. Twenty-three patients (4%) developed local, and 25 patients (4.4%) developed distant metastases/recurrence. Decreased expression or loss of ER/PR was found in 17/44 (38.6%) patients with recurrence. Eighty-four percent of patients with low-grade EEC and local recurrence had CTNNB1 mutations. Seventy-three percent of patients with distant metastasis/recurrence had KRAS mutations. The association of these mutations with the type of recurrence was statistically significant for both. Five cases with the morphology of low-grade EEC were reclassified as mesonephric-like carcinoma and were universally characterized by distant metastasis/recurrence, loss of ER/PR expression, large tumor size, absence of CTNNB1 mutations, and the presence of KRAS mutations. In low-grade EEC, CTNNB1 and KRAS mutations are associated with local recurrence and distant metastasis/recurrence, respectively, suggesting that these 2 different progression types may be conditioned by tumor genotype. ER/PR immunohistochemistry may be helpful in identifying poor performers in low-grade EEC. Furthermore, identification of the decreased expression or loss of ER/PR in tumors with low-grade histology should prompt consideration of mesonephric-like carcinoma, which is a more aggressive tumor than the low-grade EEC. KRAS mutations were associated with distant metastasis/recurrence in tumors with and without mesonephric-like phenotype.
Topics: Female; Humans; Carcinoma, Endometrioid; Endometrial Neoplasms; Receptors, Progesterone; Proto-Oncogene Proteins p21(ras); Catenins; Mutation; Estrogens; Biomarkers, Tumor; beta Catenin
PubMed: 36695555
DOI: 10.1097/PAI.0000000000001102 -
Medicine Dec 2022Zinner syndrome (ZS) is a rare congenital malformation of the urogenital tract that is associated with seminal vesicle cysts, ejaculatory duct obstruction, and...
RATIONALE
Zinner syndrome (ZS) is a rare congenital malformation of the urogenital tract that is associated with seminal vesicle cysts, ejaculatory duct obstruction, and ipsilateral renal agenesis. This unique condition was first reported by Zinner (1914). ZS is caused by malformation of the distal mesonephric duct during embryogenesis. To our knowledge, no giant seminal vesicle cysts with hemorrhage in ZS have been reported in the current study.
PATIENT CONCERNS
A 63-year-old man presented with chronic hypogastralgia with no history of lower urinary tract symptoms, hematuria, or trauma. Physical examination revealed no localized uplift or percussive pain in either kidney. No tenderness in the ureter stroke region, no localized eminence in the suprapubic region of the bladder, and no tenderness in the bladder region was observed. Digital rectal examination revealed a cystic mass with a smooth surface in the anterior wall of the rectum with no tenderness or unclear boundaries. No blood staining was observed in the finger sheaths.
DIAGNOSES
Computed tomography scan revealed that the right kidney was absent, with a mass similar to a cord above the right seminal vesicle cyst. Contrast-enhanced pelvic magnetic resonance imaging (MRI) confirmed a short T1 and T2 signal shadow similar to a cord above the right seminal vesicle cyst. The boundary was clear, with the upper part leading to the "renal region" and the lower part connecting to the right seminal vesicle cyst. Contrast-enhanced MRI showed local parenchymal cysts with cyst wall enhancement but no intrathecal enhancement. This suggested a hemorrhagic cyst. A diagnosis of Zinner syndrome was established.
INTERVENTIONS
The patient was diagnosed with a giant seminal vesicle cyst with hemorrhage in ZS. The patient had no obvious symptoms; therefore, regular follow-ups were performed.
OUTCOMES
MRI of the patient 1 month later showed that the hematoma in the seminal vesicle cyst was not absorbed.
LESSONS
Giant seminal vesicle cysts with hemorrhage in ZS are rare. To patients without symptom, regular follow-up can be adopted.
Topics: Male; Humans; Middle Aged; Seminal Vesicles; Genital Diseases, Male; Kidney; Hemorrhage; Cysts; Syndrome
PubMed: 36550832
DOI: 10.1097/MD.0000000000031577 -
International Journal of Environmental... Nov 2022Mesonephric-like adenocarcinomas (MLA) are rare neoplasms that arise in the uterine body and ovary and have been added to the World Health Organisation's recent 2020...
Mesonephric-like adenocarcinomas (MLA) are rare neoplasms that arise in the uterine body and ovary and have been added to the World Health Organisation's recent 2020 classification of female genital cancers. The pathogenesis of MLA is unknown and it remains debated whether they represent mesonephric carcinomas (Wolffian) arising in the endometrium/ovary or endometrioid carcinomas (Müllerian) closely mimicking mesonephric carcinomas. Here we report the case of a 57-year-old woman with an initial misdiagnosis of endometrioid adenocarcinoma on diagnostic biopsy. The patient came to our clinical evaluation for the appearance of menometrorrhagia complicated by anemia for several months. Therefore, she underwent pelvic echo-flowmetry, with indication for diagnostic hysteroscopy with endometrial biopsy, which yielded a positive result for endometrioid endometrial adenocarcinoma. Following staging CT scan and targeted examinations on pulmonary findings, the patient underwent surgery with surprise of definitive diagnosis deponent for endometrial MLA. Our intention is to establish a brief review of the scientific evidence in the literature and the tools available for a correct histological diagnosis, in the light of the scant anatomopathological evidence. Our question gives rise to the motive for the publication: is immunohistochemistry the right way to resolve the diagnostic error at histology, which is usually the only source of diagnostic certainty? This case is intended to alert of diagnostic error that risked having the patient treated as a neoplasm with a favorable prognosis and low degree of aggressiveness instead of for a very aggressive and poor prognosis tumor such as MLA.
Topics: Humans; Female; Middle Aged; Adenocarcinoma; Carcinoma, Endometrioid; Immunohistochemistry; Endometrium; Biomarkers, Tumor
PubMed: 36361332
DOI: 10.3390/ijerph192114451 -
Radiology Case Reports Jan 2023Zinner syndrome is a rare congenital malformation of the mesonephric duct comprising of seminal vesicle cyst, ipsilateral renal agenesis, and ejaculatory duct...
Zinner syndrome is a rare congenital malformation of the mesonephric duct comprising of seminal vesicle cyst, ipsilateral renal agenesis, and ejaculatory duct obstruction. Clinical presentation varies with perineal pain, painful ejaculation, hematospermia and infertility common presenting complaints. Here, we present a case of Zinner syndrome in a 35-year-old male with a rare clinical presentation of only abdominal discomfort. The purpose of this case report is to highlight the challenging clinical presentation of Zinner syndrome and the use of imaging modalities in diagnosing the condition.
PubMed: 36353249
DOI: 10.1016/j.radcr.2022.10.006 -
Cancer Genomics & Proteomics 2022This study aimed to investigate the clinicopathological, prognostic and molecular characteristics of uterine mesonephric-like carcinosarcoma (MLCS).
Mesonephric-like Carcinosarcoma of the Uterine Corpus: Clinicopathological, Molecular and Prognostic Characteristics in Comparison With Uterine Mesonephric-like Adenocarcinoma and Conventional Endometrial Carcinosarcoma.
BACKGROUND/AIM
This study aimed to investigate the clinicopathological, prognostic and molecular characteristics of uterine mesonephric-like carcinosarcoma (MLCS).
PATIENTS AND METHODS
We collected clinical, pathological, and genetic information from 12 MLCS patients, and analyzed their differences from mesonephric-like adenocarcinoma (MLA) and conventional endometrial carcinosarcoma (CECS).
RESULTS
The epithelial component was exclusively MLA in all MLCS cases. Metastatic and recurrent tumors consisted predominantly or exclusively of MLA in the majority of MLCS cases. Patients with MLCS and MLA presented with more advanced-stage disease than those with CECS. They also exhibited post-treatment recurrence and lung metastases more frequently than CECS. Disease-free survival rates of MLCS and MLA were shorter than those of CECS. Tumor protein 53 gene mutations were detected in four MLCS cases.
CONCLUSION
The predominance or exclusive presence of MLA in metastatic and recurrent tumors highlights the possibility that MLA may determine the clinical outcomes of patients with MLCS. Further studies are required to provide direct molecular evidence of the monoclonal origin of uterine MLCS.
Topics: Female; Humans; Prognosis; Carcinosarcoma; Endometrial Neoplasms; Adenocarcinoma
PubMed: 36316041
DOI: 10.21873/cgp.20357 -
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 -
BMC Urology Sep 2022The cysts of the male pelvic floor represent a rare clinical entity. Their origin is linked to an altered development of paramesonephric and mesonephric ducts during...
BACKGROUND
The cysts of the male pelvic floor represent a rare clinical entity. Their origin is linked to an altered development of paramesonephric and mesonephric ducts during embryogenesis.
CASE PRESENTATION
We report our experience regarding two patients presenting cysts of the ejaculatory system treated with open and mini-invasive surgery. The patients referred to our clinic with nonspecific symptoms and the diagnosis was obtained by radiological investigations. The patient treated with an open approach developed a pelvic purulent collection and a fistula of the prostatic urethra, managed with surgical drainage and prolonged bladder catheterization. On the other hand, the patient treated with laparoscopic approach did not develop any complications. No sexual or ejaculatory disorders were reported.
CONCLUSIONS
Patients with congenital cysts of the pelvic floor must be adequately informed about the risks and benefits of surgery and a careful counseling is mandatory before surgery. Treatment is recommended for symptomatic patients and an endoscopic approach is associated with a high rate of recurrence. A laparoscopic approach, when possible, is desirable.
Topics: Cysts; Humans; Male; Pelvis; Prostate; Urethra
PubMed: 36057598
DOI: 10.1186/s12894-022-01048-x