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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 Brasileira de Ginecologia E... Apr 2021Malignant mesonephric tumors are uncommon in the female genital tract, and they are usually located where embryonic remnants of Wolffian ducts are detected, such as...
INTRODUCTION
Malignant mesonephric tumors are uncommon in the female genital tract, and they are usually located where embryonic remnants of Wolffian ducts are detected, such as the uterine cervix. The information about these tumors, their treatment protocol, and prognosis are scarce.
CASE REPORT
A 60-year-old woman with postmenopausal vaginal bleeding was initially diagnosed with endometrial carcinoma. After suspicion co-testing, the patient underwent a loop electrosurgical excision of the cervix and was eventually diagnosed with mesonephric adenocarcinoma. She was subjected to a radical hysterectomy, which revealed International Federation of Gynecology and Obstetrics (FIGO) IB1 stage, and adjuvant radiotherapy. The follow-up showed no evidence of recurrence after 60 months.
CONCLUSION
We present the case of a woman with cervical mesonephric adenocarcinoma. When compared with the literature, this case had the longest clinical follow-up without evidence of recurrence, which reinforces the concept that these tumors are associated with a favorable prognosis if managed according to the guidelines defined for the treatment of patients with cervical adenocarcinomas. Though a rare entity, it should be kept in mind as a differential diagnosis for other cervical cancers.
Topics: Diagnosis, Differential; Female; Humans; Hysterectomy; Mesonephroma; Middle Aged; Neoplasm Invasiveness; Radiotherapy, Adjuvant; Uterine Cervical Neoplasms
PubMed: 33784759
DOI: 10.1055/s-0041-1725051 -
Incidental detection of Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis.Urology Annals 2020Zinner syndrome is a rare congenital abnormality occurring in males comprising a triad of unilateral renal agenesis, ipsilateral ejaculatory duct obstruction, and...
Zinner syndrome is a rare congenital abnormality occurring in males comprising a triad of unilateral renal agenesis, ipsilateral ejaculatory duct obstruction, and seminal vesicle cyst. Most patients remain asymptomatic, and some may present with lower urinary tract symptoms or infertility. We present a case of incidentally detected Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis, an association that is not reported in literature to our knowledge.
PubMed: 33776341
DOI: 10.4103/UA.UA_11_20 -
Modern Pathology : An Official Journal... Aug 2021Mesonephric carcinoma of the cervix is a rare tumor derived from Wolffian remnants. Mesonephric-like carcinomas of the ovary and endometrium, while morphologically...
Mesonephric carcinoma of the cervix is a rare tumor derived from Wolffian remnants. Mesonephric-like carcinomas of the ovary and endometrium, while morphologically similar, do not have obvious Wolffian derivation. Here, we sought to characterize the repertoire of genetic alterations in primary mesonephric and mesonephric-like carcinomas, in the distinct histologic components of mixed cases, as well as in matched primary tumors and metastases. DNA from microdissected tumor and normal tissue from mesonephric carcinomas (cervix, n = 8) and mesonephric-like carcinomas (ovarian n = 15, endometrial n = 13) were subjected to sequencing targeting 468 cancer-related genes. The histologically distinct components of four cases with mixed histology and four primary tumors and their matched metastases were microdissected and analyzed separately. Mesonephric-like carcinomas were underpinned by somatic KRAS mutations (25/28, 89%) akin to mesonephric carcinomas (8/8, 100%), but also harbored genetic alterations more frequently reported in Müllerian tumors. Mesonephric-like carcinomas that lacked KRAS mutations harbored NRAS (n = 2, ovary) or BRAF (n = 1, endometrium) hotspot mutations. PIK3CA mutations were identified in both mesonephric-like (8/28, 28%) and mesonephric carcinomas (2/8, 25%). Only mesonephric-like tumors harbored CTNNB1 hotspot (4/28, 14%) and PTEN (3/13, 23%) mutations. Copy number analysis revealed frequent gains of chromosomes 1q and 10 in both mesonephric (87% 1q; 50% chromosome 10) and mesonephric-like tumors (89% 1q; 43% chromosome 10). Chromosome 12 gains were more frequent in ovarian mesonephric-like carcinomas, and losses of chromosome 9 were more frequent in mesonephric than in mesonephric-like carcinomas (both p = 0.01, Fisher's exact test). The histologically distinct components of four mixed cases were molecularly related and shared similar patterns of genetic alterations. The progression from primary to metastatic lesions involved the acquisition of additional mutations, and/or shifts from subclonal to clonal mutations. Our findings suggest that mesonephric-like carcinomas are derived from a Müllerian substrate with differentiation along Wolffian/mesonephric lines.
Topics: Adult; Aged; Female; Genital Neoplasms, Female; Humans; Mesonephroma; Middle Aged; Mutation
PubMed: 33772212
DOI: 10.1038/s41379-021-00799-6 -
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 -
Journal of Clinical Medicine Feb 2021Mesonephric-like adenocarcinoma is a recently described rare neoplasm occurring in the uterine corpus and ovary. This under-recognized subtype of carcinoma can be very... (Review)
Review
Mesonephric-like adenocarcinoma is a recently described rare neoplasm occurring in the uterine corpus and ovary. This under-recognized subtype of carcinoma can be very challenging to diagnose. In mesonephric adenocarcinoma a variety of growth patterns can be present within the same tumor, as a result of which they can be misinterpreted and diagnosed as low-grade endometrioid adenocarcinoma, clear cell carcinoma, or even serous carcinoma and carcinosarcoma. We report a case of mesonephric-like adenocarcinoma misdiagnosed as a low-grade endometrioid endometrial adenocarcinoma that had an early local recurrence and metastasized to the liver and the lungs. Histopathological, immunohistochemical and molecular analysis were performed and compared to published literature, providing a comprehensive overview of the current knowledge. Databases (Pubmed, Web of Science, Google Scholar) were searched with a combination of the following search terms: mesonephric-like, mesonephric, adenocarcinoma, carcinoma, uterine body, uterine corpus, endometrium. Mesonephric-like adenocarcinoma is a difficult-to-diagnose entity. Advanced diagnostics, including improved morphologic, immunohistochemical and molecular knowledge can help develop new therapeutic strategies against this specific subtype of endometrial cancer with an aggressive clinical behavior.
PubMed: 33670088
DOI: 10.3390/jcm10040698 -
Gynecologic Oncology Reports May 2021•Of the fewer than 100 FATWO case reports published, at least 25 reports have metastatic quality.•Very little information regarding optimal management of FATWO is...
•Of the fewer than 100 FATWO case reports published, at least 25 reports have metastatic quality.•Very little information regarding optimal management of FATWO is known; immunohistochemical stains may help guide therapy.•FATWO may be more of a low malignant potential entity, and patients with the diagnosis should be followed closely.
PubMed: 33659603
DOI: 10.1016/j.gore.2021.100726 -
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 -
International Journal of Gynecological... Mar 2021Histopathologic classification of endocervical adenocarcinomas (EAC) has recently changed, with the new system based on human papillomavirus (HPV)-related morphologic...
Online Training and Self-assessment in the Histopathologic Classification of Endocervical Adenocarcinoma and Diagnosis of Pattern of Invasion: Evaluation of Participant Performance.
Histopathologic classification of endocervical adenocarcinomas (EAC) has recently changed, with the new system based on human papillomavirus (HPV)-related morphologic features being incorporated into the 5th edition of the WHO Blue Book (Classification of Tumours of the Female Genital Tract). There has also been the introduction of a pattern-based classification system to assess invasion in HPV-associated (HPVA) endocervical adenocarcinomas that stratifies tumors into 3 groups with different prognoses. To facilitate the introduction of these changes into routine clinical practice, websites with training sets and test sets of scanned whole slide images were designed to improve diagnostic performance in histotype classification of endocervical adenocarcinoma based on the International Endocervical Adenocarcinoma Criteria and Classification (IECC) and assessment of Silva pattern of invasion in HPVA endocervical adenocarcinomas. We report on the diagnostic results of those who have participated thus far in these educational websites. Our goal was to identify areas where diagnostic performance was suboptimal and future educational efforts could be directed. There was very good ability to distinguish HPVA from HPV-independent adenocarcinomas within the WHO/IECC classification, with some challenges in the diagnosis of HPV-independent subtypes, especially mesonephric carcinoma. Diagnosis of HPVA subtypes was not consistent. For the Silva classification, the main challenge was related to distinction between pattern A and pattern B, with a tendency for participants to overdiagnose pattern B invasion. These observations can serve as the basis for more targeted efforts to improve diagnostic performance.
Topics: Adenocarcinoma; Carcinoma; Diagnostic Self Evaluation; Education, Distance; Female; Humans; Neoplasm Invasiveness; Papillomaviridae; Papillomavirus Infections; Pathologists; Uterine Cervical Neoplasms
PubMed: 33570861
DOI: 10.1097/PGP.0000000000000757 -
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