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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 -
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 -
Gynecologic Oncology Reports Nov 2020Mesonephric carcinoma is a rare cancer that most often arises within the cervix, and less frequently, in the ovary and endometrium. A retrospective search of our...
Mesonephric carcinoma is a rare cancer that most often arises within the cervix, and less frequently, in the ovary and endometrium. A retrospective search of our CLIA-certified and CAP-accredited reference molecular laboratory database (Foundation Medicine, Inc.) identified 20 mesonephric or mesonephric-like, cervical (n = 10), endometrial (n = 5), ovarian (n = 4) or peri-bladder (n = 1) carcinomas that had undergone comprehensive genomic profiling via next generation sequencing. Activating mutations were present in 90%, 18 of 20 cases, including G12V (n = 7), G12D (n = 6), G12A (n = 3) and G12C (n = 2). Other recurrent alterations were identified in (25%), (20%), (15%), (10%), (10%) and (10%). One wild-type case had a mutation as the sole alteration, while the second wild-type case had an exon 20 insertion D770_N771insSVD alteration. All tumors were negative for HPV DNA, microsatellite instability, high tumor mutational burden and homologous recombination deficiency. A circulating tumor DNA (ctDNA) liquid biopsy from peripheral blood, which was performed 6 years after original solid tumor resection in one patient with suspected lung metastasis, revealed concordance of alteration, gains of chromosomes 1q, 2, 10, 12 and 20, plus new alterations in the liquid biopsy compared to the original sample. G12 mutation is major driver of mesonephric and mesonephric-like carcinomas, with less frequent contribution by ARID1A and PIK3CA pathways in tumors of non-cervical origin. ctDNA liquid biopsy may be useful in detecting mutations in recurrent or metastatic patients, who may potentially be eligible for trials against emerging targeted therapies.
PubMed: 33024807
DOI: 10.1016/j.gore.2020.100652 -
International Journal of Gynaecology... Oct 2021This review covers the significant new developments in the pathological classification of gynecological tumors. Many of these were included in the updated World Health... (Review)
Review
This review covers the significant new developments in the pathological classification of gynecological tumors. Many of these were included in the updated World Health Organization Classification of Female Genital Tract Tumours, published in 2020. Topics include the compelling evidence that a large majority of extrauterine high-grade serous carcinomas arise from the fallopian tube; the Cancer Genome Atlas (TCGA) Classification of endometrial carcinomas; the discovery that most so-called synchronous endometrial and ovarian endometrioid carcinomas represent metastasis from the endometrium to the ovary; and the division of cervical, vaginal, and vulval carcinomas into clinically meaningful HPV-associated and HPV-independent types. Newly described tumor types are covered, including endometrial and ovarian mesonephric-like adenocarcinoma, uterine sarcoma types associated with specific molecular abnormalities, and gastric (gastrointestinal)-type adenocarcinomas of the endometrium and vagina. Important molecular events in ovarian sex cord-stromal tumors are also discussed.
Topics: Adenocarcinoma; Carcinoma, Endometrioid; Endometrial Neoplasms; Female; Humans; Ovarian Neoplasms; Uterine Neoplasms
PubMed: 34669206
DOI: 10.1002/ijgo.13871 -
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 -
Der Pathologe May 2015The 2004 World Health Organization (WHO) classification of renal cancer includes renal carcinoid and neuroendocrine cancer of the kidneys in the group of primary renal... (Review)
Review
The 2004 World Health Organization (WHO) classification of renal cancer includes renal carcinoid and neuroendocrine cancer of the kidneys in the group of primary renal neuroendocrine tumors. The histological features of primary renal carcinoids are similar to those of neuroendocrine tumors found in other anatomical locations. Primary carcinoid tumors of the kidneys are frequently misdiagnosed as other kidney cancers, such as papillary renal cell carcinoma, mesonephric tumors, Wilms tumor (WT) and undifferentiated carcinoma. Immunohistochemical staining results are consistent with the diagnosis of a neuroendocrine tumor with immunoreactivity for synaptophysin, chromogranin, CD56, and neuron-specific enolase (NSE). Positive expression of CD99 can also be seen. There is mainly absence of WT1, cytokeratin 7, cytokeratin 20, thyroid transcription factor (TTF1) and LCA, ruling out most other differential diagnoses. Renal carcinoid tumors are regarded as low-grade neuroendocrine tumors; however, many studies have demonstrated metastatic disease in patients with renal carcinoid tumors. The prognostic value of histological parameters is uncertain. Some studies have correlated poor patient prognosis with increased mitotic activity, presence of necrosis and cytological atypia. Cases with higher mitotic rates of > 2 mitoses/10 high power fields (HPF) developed metastases more frequently; therefore, the WHO classification of neuroendocrine tumors used in other organs is recommended for primary renal carcinoid tumors.
Topics: Biomarkers, Tumor; Carcinoid Tumor; Cell Transformation, Neoplastic; Diagnosis, Differential; Disease Progression; Humans; Kidney; Kidney Neoplasms; Neuroendocrine Tumors; Prognosis
PubMed: 25898936
DOI: 10.1007/s00292-015-0018-y -
Journal of Pediatric Hematology/oncology May 2022Primary extrarenal Wilms tumors are rare neoplasms that are presumed to arise from metanephric or mesonephric remnants outside of the kidney. Their pathogenesis is...
Primary extrarenal Wilms tumors are rare neoplasms that are presumed to arise from metanephric or mesonephric remnants outside of the kidney. Their pathogenesis is debated but has not been studied, and there are no reports of genomic descriptions of extrarenal Wilms tumors. We describe a diffusely anaplastic extrarenal Wilms tumor that occurred in the lower abdomen and upper pelvis of a 10-year-old boy. In addition to the clinical, histopathologic, and radiologic features, we describe the cytogenetic changes and exomic profile of the tumor. The tumor showed loss of the tumor suppressor AMER1, loss of chromosome regions 1p, 16q, and 22q, gain of chromosome 8, and loss of function TP53 mutation-findings known to occur in renal Wilms tumors. This is the first description of the exomic profile of a primary extrarenal Wilms tumor. Our data indicate that primary extrarenal Wilms tumors may follow the same pathogenetic pathways that are seen in renal Wilms tumors. Finally, we describe the establishment of first ever tumor models (primary cell line and patient-derived xenograft) from an extrarenal Wilms tumor.
Topics: Child; Female; Humans; Kidney; Kidney Neoplasms; Male; Mutation; Wilms Tumor
PubMed: 35129140
DOI: 10.1097/MPH.0000000000002413 -
Archives of Pathology & Laboratory... Dec 2017- Cervical adenocarcinomas span a diverse group of tumors with several distinct histologic tumor types, which include endocervical, endometrioid, intestinal,... (Review)
Review
CONTEXT
- Cervical adenocarcinomas span a diverse group of tumors with several distinct histologic tumor types, which include endocervical, endometrioid, intestinal, villoglandular, gastric, signet ring, serous, clear cell, and mesonephric. Diagnosis of cervical adenocarcinoma, especially early diagnosis, poses a significant challenge.
OBJECTIVE
- To review the pathogenesis, diagnostic criteria, immunohistochemical markers, and differential diagnosis of various subtypes of human papillomavirus (HPV)-positive and HPV-negative cervical adenocarcinomas. The paper presents a concise summary of the issues that may be particularly difficult in histopathologic diagnosis, such as differentiating neoplastic lesions from benign mimics, determining the tumor type, differentiating early invasive lesions from adenocarcinoma in situ, measuring the depth of invasion, and, finally, differentiating primary cervical adenocarcinoma from uterine endometrioid adenocarcinoma and tumors metastatic from other primary sites.
DATA SOURCES
- The study employed a PubMed search of recently published reports.
CONCLUSIONS
- Early detection of HPV-positive tumor types may be aided with the expansion of HPV testing; however, early diagnosis of HPV-negative cervical adenocarcinomas will continue to pose a challenge and may require the development of additional molecular testing techniques.
Topics: Adenocarcinoma; Biomarkers, Tumor; Carcinoma, Endometrioid; Diagnosis, Differential; Early Detection of Cancer; Endometrial Neoplasms; Female; Gastrointestinal Neoplasms; Humans; Immunohistochemistry; Papillomaviridae; Papillomavirus Infections; Uterine Cervical Neoplasms
PubMed: 28644686
DOI: 10.5858/arpa.2016-0356-RA -
Diagnostics (Basel, Switzerland) Nov 2021Mesonephric-like adenocarcinoma (MLA) of the uterine corpus is a rare but distinct malignant tumor of the female genital tract, demonstrating a characteristic morphology...
Mesonephric-like adenocarcinoma (MLA) of the uterine corpus is a rare but distinct malignant tumor of the female genital tract, demonstrating a characteristic morphology and unique immunohistochemical profiles and molecular alterations. We conducted immunohistochemical staining (IHC) to make precise differential diagnoses of uterine MLAs from common histological subtypes of endometrial carcinomas. We collected 25 uterine MLAs and performed IHC for GATA3, TTF1, CD10, ER, PR, p16, p53, and HER2. Seventeen cases (68.0%) showed at least moderate nuclear GATA3 immunoreactivity in ≥25% of tumor cells. Most cases expressed TTF1 (17/21, 81.0%) and CD10 (luminal; 17/21, 81.0%). Heterogeneous TTF1 expression was noted in 12 cases. An inverse pattern of GATA3 and TTF1 staining was observed in eight cases (32.0%). Three cases (12.0%) showed moderate-to-strong ER expression in ≥25% of tumor cells, and two cases (8.0%) showed moderate-to-strong PR expression in ≥5% of tumor cells. These hormone receptor-positive MLAs varied in intensity and proportion of GATA3 staining. None of the 25 cases exhibited either diffuse and strong p16 expression or aberrant p53 expression. Five cases (20.0%) showed equivocal HER2 immunoreactivity (score 2+), but FISH confirmed that none of them exhibited gene amplification. In summary, a small subset of uterine MLAs displayed atypical IHC results: focal but strong expression of ER or PR, the complete absence of GATA3 immunoreactivity, the concurrent expression of mesonephric and hormone receptors, and the inverse pattern of GATA3 and TTF1 staining. These unusual immunophenotypes may complicate the differential diagnosis of MLA. Moreover, pathologists should be encouraged to interpret the IHC results cautiously.
PubMed: 34829389
DOI: 10.3390/diagnostics11112042 -
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