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Diagnostic Pathology Jul 2020Mesonephric-like adenocarcinoma (M-LAC) is a rare, recently described tumor occurring in the uterine corpus and ovary, which shares the same morphological and...
BACKGROUND
Mesonephric-like adenocarcinoma (M-LAC) is a rare, recently described tumor occurring in the uterine corpus and ovary, which shares the same morphological and immunohistochemical features with the more common mesonephric adenocarcinoma (MAC), which mostly arises the uterine cervix. Despite the similarities between these tumors, the histogenesis of M-LAC is still disputable.
CASE PRESENTATION
Sixty-one-year-old woman presented with an advanced tumor of the left ovary with intraabdominal spread and liver metastases. After receiving 5 cycles of neoadjuvant chemotherapy, she underwent a hysterectomy with bilateral salpingo-oophorectomy, and resection of the liver metastasis, omentum, and appendix. Histologically, the ovarian tumor consisted of two components, whose morphology and immunohistochemical results were typical of either a serous borderline tumor (immunohistochemical positivity for PAX8, WT1, ER and PR) or a mesonephric-like carcinoma (immunohistochemical positivity for PAX8, TTF1 and GATA3). Only the component of the mesonephric-like adenocarcinoma metastasized to the omentum and liver. A molecular analysis with a panel of 271 genes (size 1020 kbp) was performed separately on samples from the borderline tumor, primary ovarian mesonephric-like adenocarcinoma, and liver metastasis. The results showed the clonal origin of all samples, which shared the same KRAS (NM_004985.3:c.34G > T, p.(G12C)) and PIK3CA (NM_006218.2:c.1633G > A, p.(E545K)) somatic mutations. Moreover, in the sample from the primary mesonephric-like carcinoma and its liver metastasis a likely pathogenic somatic MYCN mutation (NM_005378.4:c.131C > T, p.(P44L) was found. In all samples, the deletion of exons 9-10 in the CHEK2 gene was present, which is in concordance with the previously performed genetic testing of the blood specimen which revealed the hereditary CHEK2 mutation in this patient.
CONCLUSIONS
Our result support the theory that at least some mesonephric-like ovarian adenocarcinomas are of Müllerian origin. The serous borderline tumor seems to be a precursor of mesonephric-like adenocarcinoma, which has been proven in our case by both tumors sharing the same mutations, and the presence of cumulative molecular aberrations in the mesonephric-like adenocarcinoma.
Topics: Adenocarcinoma; Biomarkers, Tumor; Cystadenoma, Serous; Female; Humans; Mesonephroma; Middle Aged; Ovarian Neoplasms; Ovary; Precancerous Conditions; Uterine Neoplasms
PubMed: 32693840
DOI: 10.1186/s13000-020-01012-z -
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 -
Cancer Genomics & Proteomics 2020Mesonephric carcinoma (MNC) is a rare but notable entity of the female genital tract. While many researchers have acknowledged and studied MNC, much remains unknown on...
BACKGROUND/AIM
Mesonephric carcinoma (MNC) is a rare but notable entity of the female genital tract. While many researchers have acknowledged and studied MNC, much remains unknown on the characteristics of mesonephric remnant (MNR) or hyperplasia (MNH). There has not been any study examining the molecular features of MNR and MNH so far. The aim of this study was to investigate the clinicopathological and molecular characteristics of ten uterine mesonephric lesions, including two MNRs without atypia, four MNHs without atypia, and three MNHs with atypia.
MATERIALS AND METHODS
We reviewed the electronic medical records and all available slides of ten cases from multiple institutions. Targeted sequencing and array comparative genomic hybridization were performed.
RESULTS
Three atypical MNHs displayed nuclear enlargement, mild-to-moderate nuclear pleomorphism, and nuclear membrane irregularity, and harbored pathogenic Kirsten rat sarcoma 2 viral oncogene homolograt sarcoma 2 viral oncogene homolog (KRAS) mutation. Two of those that co-existed with MNC harbored the same sequence alterations as each of their adjacent MNC. One of the three atypical MNHs harbored chromosome 1q gain.
CONCLUSION
Atypical MNH is a potential premalignant lesion in which KRAS mutation and chromosome 1q gain play an important role in the early stage of mesonephric carcinogenesis.
Topics: Adenocarcinoma; Biomarkers, Tumor; Chromosomes, Human, Pair 1; Female; Gain of Function Mutation; Humans; Hyperplasia; Mesonephroma; Middle Aged; Mutation; Precancerous Conditions; Prognosis; Proto-Oncogene Proteins p21(ras); Uterine Cervical Neoplasms
PubMed: 33099482
DOI: 10.21873/cgp.20235 -
Disease Models & Mechanisms Jul 2023Little is known about the distal excretory component of the urinary tract in Danio rerio (zebrafish). This component is affected by many human diseases and disorders of...
Little is known about the distal excretory component of the urinary tract in Danio rerio (zebrafish). This component is affected by many human diseases and disorders of development. Here, we have undertaken multi-level analyses to determine the structure and composition of the distal urinary tract in the zebrafish. In silico searches identified uroplakin 1a (ukp1a), uroplakin 2 (upk2) and uroplakin 3b (upk3b) genes in the zebrafish genome (orthologues to genes that encode urothelium-specific proteins in humans). In situ hybridization demonstrated ukp1a expression in the zebrafish pronephros and cloaca from 96 h post-fertilization. Haematoxylin and Eosin staining of adult zebrafish demonstrated two mesonephric ducts uniting into a urinary bladder that leads to a distinct urethral opening. Immunohistochemistry identified Uroplakin 1a, Uroplakin 2 and GATA3 expression in zebrafish urinary bladder cell layers that match human urothelial expression. Fluorescent dye injections demonstrated zebrafish urinary bladder function, including urine storage and intermittent micturition, and a urethral orifice separate from the larger anal canal and rectum. Our findings reveal homology between the urinary tracts of zebrafish and humans, and offer the former as a model system to study disease.
Topics: Animals; Humans; Adult; Zebrafish; Membrane Glycoproteins; Uroplakin Ia; Uroplakin II; Urinary Bladder
PubMed: 37293698
DOI: 10.1242/dmm.050110 -
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 -
Diagnostics (Basel, Switzerland) Apr 2021We present herein a rare case of uterine serous carcinoma with mesonephric-like differentiation (SC-MLD) initially misdiagnosed as mesonephric-like adenocarcinoma (MLA)....
Serous Carcinoma of the Endometrium with Mesonephric-Like Differentiation Initially Misdiagnosed as Uterine Mesonephric-Like Adenocarcinoma: A Case Report with Emphasis on the Immunostaining and the Identification of Splice Site Mutation.
We present herein a rare case of uterine serous carcinoma with mesonephric-like differentiation (SC-MLD) initially misdiagnosed as mesonephric-like adenocarcinoma (MLA). A 51-year-old woman underwent total hysterectomy for a uterine tumor. Histologically, the tumor exhibited various architectures, including papillary, glandular, tubular, cribriform, and cystic. On the basis of this architectural diversity accompanied by intraluminal eosinophilic secretions and intermediate-grade nuclear atypia, the initial diagnosis was MLA. However, the tumor was diffusely and strongly positive for the expression of p16 and negative for the expression of GATA-binding protein 3 (GATA3). Furthermore, we identified a pathogenic tumor protein 53 () mutation affecting an acceptor splice site in intron 9, despite a wild-type p53 immunostaining pattern. The observations of diffuse and strong p16 expression, lack of GATA3 expression, pathogenic mutation, and wild-type Kirsten rat sarcoma viral oncogene homolog indicate that this tumor was not an MLA but an SC-MLD. Both uterine SC and MLA can exhibit various histological growth patterns. Our comprehensive clinicopathological and molecular analyses can serve to improve the understanding of this rare condition and help pathologists in making an accurate diagnosis.
PubMed: 33919505
DOI: 10.3390/diagnostics11040717 -
Radiology Case Reports Mar 2023We present the clinical case of a 53-year-old woman referred for suspicion of recurrence of a mesonephric-like adenocarcinoma of the ovary. Abdominal and pelvic CT...
We present the clinical case of a 53-year-old woman referred for suspicion of recurrence of a mesonephric-like adenocarcinoma of the ovary. Abdominal and pelvic CT revealed multiple round/oval solid nodules with similar density scattered throughout the abdomen and pelvis, the biggest ones appearing in the left hypochondrium; no normal-appearing spleen or ascites were observed. These radiological findings and the absence of significant elevation of CA 125 levels made the radiologists hypothesize that these aspects were related to abdominal splenosis. They asked the patient about previous medical history of splenic injury, which she confirmed, referring it was a consequence of a remote major trauma. A Tc-labeled heat-denatured erythrocytes (Tc-DRBC) scintigraphy/ hybrid SPECT/CT was then performed for definitive diagnosis; it showed spleen remnants as foci of increased radiopharmaceutical uptake in the same locations as the nodules appearing in the CT. This diagnostic work-up was consistent with abdominal splenosis, mimicking peritoneal carcinomatosis of ovarian cancer.
PubMed: 36593917
DOI: 10.1016/j.radcr.2022.11.071 -
Medicine Apr 2021Female adnexal tumors of probable Wolffian origin (FATWOs) are rare gynecologic neoplasms arising from the mesonephric duct remnants. Less than 90 cases have been... (Review)
Review
RATIONALE
Female adnexal tumors of probable Wolffian origin (FATWOs) are rare gynecologic neoplasms arising from the mesonephric duct remnants. Less than 90 cases have been reported in the English literature. Although most cases of FATWO are considered benign, recurrence and metastasis may occur in very few cases during the course of the disease. Due to the small number of recurrent and metastatic FATWO cases, there are no clear recommendations regarding optimal treatment.
PATIENT CONCERNS
A 75-year-old postmenopausal woman, who underwent a mass excision of the right broad ligament three years ago, was found to have a right adnexal mass during a regular postoperative physical examination.
DIAGNOSES
Vaginal ultrasound examination revealed a cystic and solid mass approximately 3.6 × 4.4 × 3.8 cm on the right side of the uterus. Three years ago, the mass of the right broad ligament was diagnosed with FATWO in the local hospital. Following extensive immunohistochemistry analysis and after reviewing the histology slides from the primary tumor, the final diagnosis of the mass on the right side of the uterus was recurrent and metastatic FATWO.
INTERVENTIONS
The patient underwent laparoscopic mass excision, hysterectomy and resection of the metastatic lesion in the small intestine, and then she received 6 cycles of docetaxel and carboplatin-based chemotherapy.
OUTCOMES
The disease has recurred three years after the first surgery in the local hospital. After the second surgery followed by systemic chemotherapy, there is no evidence of recurrence with 24 months of follow-up till now.
LESSONS
FATWO is considered a benign entity. However, a few FATWOs have been shown to behave aggressively. Due to only a few reported cases, there are no comprehensive recommendations regarding the optimal clinical management of recurrent and metastatic FATWOs. Complete surgical resection followed by combination chemotherapy is considered to be the most effective therapy for recurrent and metastatic FATWOs. Chemotherapy with docetaxel plus carboplatin, which is most commonly used in malignant cases, may be effective in the treatment of recurrent and metastatic FATWOs.
Topics: Adenoma; Adnexal Diseases; Aged; Antineoplastic Combined Chemotherapy Protocols; Broad Ligament; Chemotherapy, Adjuvant; Female; Humans; Hysterectomy; Intestinal Neoplasms; Intestine, Small; Laparoscopy; Neoplasm Recurrence, Local; Tomography, X-Ray Computed; Treatment Outcome; Ultrasonography
PubMed: 33787642
DOI: 10.1097/MD.0000000000025377 -
Revista Da Associacao Medica Brasileira... May 2020INTRODUCTION Zinner's Syndrome is a triad of mesonephric duct anomalies comprising unilateral renal agenesis, seminal vesicle cyst, and ejaculatory duct obstruction. In... (Review)
Review
INTRODUCTION Zinner's Syndrome is a triad of mesonephric duct anomalies comprising unilateral renal agenesis, seminal vesicle cyst, and ejaculatory duct obstruction. In this study, we present a kidney recipient with ectopic ureter associated with Zinner's syndrome and a literature review. CASE PRESENTATION A 59-year-old male with a history of chronic kidney disease and left renal agenesis underwent deceased donor kidney transplantation. After securing optimal renal functions, the patient underwent abdominal computed tomography (CT) scan for the seroma that occurred under the incision. The final diagnosis was an ectopic distal ureter ending in the seminal vesicle cyst's wall and ipsilateral renal agenesis. The patient was discharged without any complications and the clinical follow up was uneventful. DISCUSSION AND CONCLUSION Congenital seminal vesicle disorders are usually associated with ipsilateral urinary duct anomalies stemming from the same embryonic structure. To our knowledge, this is the first case report that describes kidney transplantation in a patient with ipsilateral renal agenesis and ectopic ureter ending in the seminal vesicle cyst. In patients with renal agenesis, during the ipsilateral urinary tract anastomosis, the possibility of ectopic ureter should be kept in mind otherwise graft loss can occur with a high morbidity rate.
Topics: Cysts; Genital Diseases, Male; Humans; Kidney; Kidney Transplantation; Male; Middle Aged; Seminal Vesicles; Ureter
PubMed: 32638967
DOI: 10.1590/1806-9282.66.5.692 -
Cells Apr 2021Mixed epithelial and stromal tumor of the kidney (MESTK), a benign rare tumor with malignant transformation potential, is thought to be derived from fetal or immature...
Mixed epithelial and stromal tumor of the kidney (MESTK), a benign rare tumor with malignant transformation potential, is thought to be derived from fetal or immature cells originating from the mesonephric and Müllerian ducts. However, due to its rarity, little is known about the anti-tumor immune responses in MESTK. Herein, we present five cases of MESTK and evaluate the population of tumor-infiltrating lymphocytes (TILs) using a freshly obtained MESTK sample. Microscopically, TILs were scattered or clustered in large aggregates in the stroma in all five cases; furthermore, three cases exhibited heavy, large lymphocytic aggregates with no well-organized tertiary lymphoid structures with germinal centers. Flow cytometric analysis of TILs in one freshly obtained MESTK sample revealed that >40% of CD3 T cells were effector memory FasCD28 γδ T cells expressing high levels of programmed cell death protein 1 and inducible T-cell co-stimulator, but low levels of CD44 and CD27. Most αß T cells exhibited a naïve phenotype. Additionally, we detected many activated class-switched CD21CD27 B cells as well as CD11cIgM marginal zone B-like and CD27CD21CD23 immunoglobulin (Ig)DIgM age-associated B-like cells. Collectively, for the first time, we report the immune microenvironment pattern of MESTK to oncogenic stress.
Topics: Adult; Epithelial Cells; Female; Humans; Kidney Neoplasms; Lymphocytes, Tumor-Infiltrating; Male; Middle Aged; Stromal Cells; Tomography, X-Ray Computed
PubMed: 33923583
DOI: 10.3390/cells10040917