scholarly journals Mesonephric Adenocarcinoma of the Vagina Harboring TP53 Mutation

Diagnostics ◽  
2022 ◽  
Vol 12 (1) ◽  
pp. 119
Author(s):  
Hyunjee Lee ◽  
Hyunjin Kim ◽  
Hyun-Soo Kim
Keyword(s):  
Tp53 Mutation ◽  
Female Genital Tract ◽  
Punch Biopsy ◽  
Vaginal Wall ◽  
Molecular Characteristics ◽  
Sequencing Analysis ◽  
Pelvic Magnetic Resonance Imaging ◽  
Architectural Patterns ◽  
Mesonephric Adenocarcinoma ◽  
P53 Immunoreactivity

Mesonephric adenocarcinoma (MA) of the female genital tract is a rare but distinct entity, exhibiting unique morphological, immunophenotypical, and molecular characteristics. Vaginal MA is hypothesized to arise from the mesonephric remnants located in the lateral vaginal wall. A 52-year-old woman presented with vaginal bleeding. Physical examination revealed a protruding mass in the left vaginal wall. Pelvic magnetic resonance imaging revealed a 2.5-cm mass arising from the left upper vagina and extending posterolaterally to the extravaginal tissue. The punch biopsy was diagnosed as poorly differentiated adenocarcinoma. She received radical surgical resection. Histologically, the tumor displayed various architectural patterns, including compactly aggregated small tubules, solid cellular sheets, endometrioid-like glands and ducts, intraluminal micropapillae, cribriform structure, and small angulated glands accompanied by prominent desmoplastic stroma. The tubules and ducts possessed hyaline-like, densely eosinophilic intraluminal secretions. The tumor extended to the subvaginal soft tissue and had substantial perineural invasion. Immunostaining revealed positivity for the mesonephric markers, including GATA3, TTF1, and PAX2, while showing very focal and weak positivity for estrogen receptor and negativity for progesterone receptor. Additionally, we observed a complete absence of p53 immunoreactivity. Targeted sequencing analysis revealed that the tumor harbored both activating KRAS p.G12D mutation and truncating TP53 p.E286* mutation. A thorough review of the previous literature revealed that 4.5% (3/67) of vaginal/cervical MAs and 0.9% (1/112) of uterine/ovarian mesonephric-like adenocarcinomas harbor TP53 mutations, indicating that this is very uncommon in malignant mesonephric lesions. In summary, we presented a rare case of vaginal MA uniquely harboring pathogenic TP53 mutation, resulting in p53 aberration.

scholarly journals Cervical Mesonephric Adenocarcinoma: A Case Report of a Rare Gynecological Tumor from Embryological Remains of the Female Genital Tract

2021 ◽  
Author(s):  
Catarina Reis-de-Carvalho ◽  
Carolina Vaz-de-Macedo ◽  
Santiago Ortiz ◽  
Anabela Colaço ◽  
Carlos Calhaz-Jorge
Keyword(s):  
Case Report ◽  
Genital Tract ◽  
Female Genital Tract ◽  
Treatment Protocol ◽  
Gynecology And Obstetrics ◽  
Mesonephric Adenocarcinoma ◽  
Gynecological Tumor ◽  
Cervical Adenocarcinomas ◽  
Female Genital

Abstract 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.

scholarly journals A Case of Malignant Melanoma of the Uterine Cervix with Disseminated Metastases throughout the Vaginal Wall

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Tomoko Noguchi ◽  
Nami Ota ◽  
Yasushi Mabuchi ◽  
Shigetaka Yagi ◽  
Sawako Minami ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Uterine Cervix ◽  
Pap Smear ◽  
Lung Metastases ◽  
Female Genital Tract ◽  
Figo Stage ◽  
Vaginal Wall ◽  
Pelvic Lymphadenectomy ◽  
Pigmented Lesions ◽  
Node Metastases

Malignant melanoma (MM) in the female genital tract accounts for less than 2% of all melanomas, and the vast majority associated occur in the vulva and vagina. Primary MM of the uterine cervix is extremely rare and its prognosis is very poor. We report a case of primary MM of the cervix with dissemination throughout the vaginal wall. A 66-year-old woman presented with postmenopausal bleeding. Gynecologic examination demonstrated a 2 cm polypoid blackish-pigmented tumor on the cervix with multiple small blackish-pigmented lesions throughout the vaginal wall. Cervical Pap smear cytology showed malignant melanoma. MRI and PET/CT did not detect any distant or lymph node metastases. She underwent radical hysterectomy, pelvic lymphadenectomy, and total vaginectomy. The pathological diagnosis was FIGO stage IIIA primary cervical MM. She received adjuvant chemotherapy with 6 courses of dacarbazine, but 6 months later, multiple lung metastases were detected. Despite 4 courses of anti-PD-1 antibody (nivolumab) treatment, she died of the disease 13 months after surgery.

Discovery and genome characterization of a new Nepovirus infecting grapevine

Plant Disease ◽  
2020 ◽  
Author(s):  
Maher Al Rwahnih ◽  
Olufemi Joseph Alabi ◽  
Min Sook Hwang ◽  
Tongyan Tian ◽  
Dimitre Mollov ◽  
...  
Keyword(s):  
High Throughput Sequencing ◽  
Phylogenetic Analyses ◽  
Virus Transmission ◽  
Amino Acid Sequences ◽  
Molecular Characteristics ◽  
Vitis Vinifera L ◽  
Sequencing Analysis ◽  
Biological Index ◽  
Chenopodium Amaranticolor ◽  
Sequence Contigs

In 2012, dormant canes of a proprietary wine grape (Vitis vinifera L.) accession were included in the collection of the University of California-Davis Foundation Plant Services. No virus-like symptoms were elicited when bud chips from propagated own-rooted canes of the accession were graft-inoculated onto a panel of biological index grape varieties. However, chlorotic ring symptoms were observed on sap inoculated Chenopodium amaranticolor Coste & A. Rein and C. quinoa Willd. plants, indicating the presence of a mechanically transmissible virus. Transmission electron microscopy of virus preps from symptomatic C. quinoa revealed spherical, non-enveloped virions of ~27 nm in diameter. And nepovirus-like haplotypes of sequence contigs were detected in both the source grape accession and recipient C. quinoa plants using high throughput sequencing analysis. A novel bipartite nepovirus-like genome was assembled from these contigs and the termini of each RNA segment were verified by RACE assays. The RNA1 (7,186-nt) of the virus encode a large polyprotein P1 of 231.1 kDa while the RNA2 (4,460-nt) also encode a large polyprotein P2 of 148.9 kDa. Each of the polyadenylated RNA segment is flanked by 5′- (RNA1=156-nt; RNA2=170-nt) and 3′- (RNA1=834-nt; RNA2=261-nt) untranslated region sequences that shared >90% identities between their corresponding sequences. Maximum-likelihood phylogenetic analyses of the conserved Pro-Pol amino acid sequences of Secoviridae species revealed the clustering of the new virus within the nepovirus clade. Considering its biological and molecular characteristics, and based on current criteria, we propose that the novel virus, named as grapevine nepovirus A (GNVA), be assigned as a member of the genus Nepovirus.

scholarly journals Solitary vaginal paraganglioma with mature sacrococcygeal teratoma: a rare case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhan Wang ◽  
Hua Fan ◽  
Jinghua Fan ◽  
Samuel Seery ◽  
Wenda Wang ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Rare Case ◽  
Primordial Germ Cell ◽  
Female Genital Tract ◽  
Posterior Wall ◽  
Vaginal Wall ◽  
Sacrococcygeal Teratoma ◽  
Rare Case Report ◽  
Cell Layers ◽  
General Surgeons

Abstract Background Vaginal paraganglioma are rare, atypical, solitary tumors which originate from the female genital tract. Sacrococcygeal teratoma are also rare neoplasms which derive from one (or more) primordial germ cell layers. Here we report a unique case of vaginal paraganglioma with sacrococcygeal teratoma. Case presentation A 44-year-old female experienced paroxysmal hypertension, palpitations and dizziness for almost six years. Enhanced CT and MRI highlighted two abnormal soft tissue lesions located in the left vaginal wall and coccyx anteriorly, and Iodine-131 metaiodobenzylguanidine (131I-MIBG) demonstrated abnormal radioactive uptake in perineum area. Endocrine tests showed elevated plasma normetanephrine (NMN) and 24 h urine norepinephrine. There was a well-circumscribed soft tissue lesion of approximately 3.5 cm in the left lateral vaginal wall which could be palpated during bimanual examination, together with a 1.5 cm tumor in the posterior wall of the rectum. We completely resected the two lesions in stages with the support of a senior gynecologist and general surgeons. Postoperative histopathological examinations suggested the vaginal paraganglioma and mature sacrococcygeal teratoma. Targeted sanger sequencing for the 36 mostly common paraganglioma-related genes, with a depth of 1000x, revealed no mutations. Post-operatively, plasma NMN and 24 h urine norepinephrine returned to the normal range and her symptoms completely disappeared. Conclusions We reported an extremely rare case and the successful treatment of functional vaginal paraganglioma coexisting with adult sacrococcygeal teratoma.

scholarly journals An Unusual Ectopic Thymoma in the Lung and Anterior Mediastinum: A Case Report

2020 ◽  
Author(s):  
Rui Meng ◽  
Lu WU ◽  
Zhenyu LI ◽  
Qianwen LI ◽  
Kuikui ZHU ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Wedge Resection ◽  
Anterior Mediastinum ◽  
Clinical Entity ◽  
Therapeutic Interventions ◽  
Intratumor Heterogeneity ◽  
Molecular Characteristics ◽  
Sequencing Analysis ◽  
Rare Clinical Entity ◽  
Ectopic Thymoma

Abstract Background: Ectopic thymoma, a subtype of thymomas, is a rare clinical entity. Understanding the pathogenesis and evolution of Ectopic thymoma may lead to greater insight into tumor initiation and maintenance and may guide therapeutic interventions. We report a case of a multiple thymoma in the lung and anterior mediastinum.Case presentation: we presented a case of 62-year-old man with type A ectopic pulmonary thymoma and thymoma in the anterior mediastinum, which were diagnosed postoperatively. Mediastinal lesion resection and thoracoscopic pulmonary wedge resection were performed. The tumors were completely resected, and the patient was disease-free and without recurrence. we performed whole-exome sequencing (WES), and found eight gene mutations that was co-mutated in both lesions. Consistent with a previous exome sequencing analysis of Thymoma and Thymic Carcinoma, HRAS was also observed in mediastinal lesion and lung lesion tissues. We also evaluated the intratumor heterogeneity of nonsilent mutations, and the mediastinal lesion tissue has higher degree of heterogeneity in detected variants, and the pulmonary tissue has a relatively low amount of variant heterogeneity. Conclusions: Ectopic thymoma is a highly rare clinical entity. Full recognition of its Molecular characteristics will help to better diagnose this disease.

scholarly journals Mesonephric Adenocarcinoma Arising From The Uterine Corpus：Case Reports and Literature Review

2020 ◽  
Author(s):  
Qian HU ◽  
Qin Xu ◽  
Yan Chun Deng ◽  
Tao Guo ◽  
Li Xiu Wu
Keyword(s):  
Clinical Characteristics ◽  
Uterine Wall ◽  
University Hospital ◽  
Molecular Characteristics ◽  
Clinical Prognosis ◽  
Uterine Corpus ◽  
Kaplan Meier ◽  
Mesonephric Adenocarcinoma ◽  
The One ◽  
Mesonephric Carcinoma

Abstract Background Mesonephric adenocarcinoma (MNAC) is a rare carcinoma which arises from the mesonephric remnant of the gynecologic tract. It mainly occurs in the uterine cervix, barely locates in the uterine corpus, ovarian and vagina. To date, only a few cases of MNAC arising from of the uterine body (UB-MNAC) have been reported, and the clinicopathologic and molecular characteristics of UB-MNAC remain limited. A recent report suggested that series of UB-MNAC should be defined as Mesonephric-like adenocarcinoma carcinomas (MLAC), for they exhibited the classic morphologic features and immunophenotype of mesonephric carcinoma, but occurring outside of the cervix and without convincing mesonephric remnants. Thus, the histogenesis of UB-MNAC is not yet clear, they may originate in Müllerian tissue and exhibits the mesonephric differentiation phenotype, or arise from the mesonephric remnants in the uterine wall.Case presentation To better understand the histogenesis of UB-MNAC, we presented three UB-MNAC cases from west china second university hospital, which exhibited typical morphologic, histologic as well as the immunohistochemical characteristics of MNAC. Notably, among the three cases, two cases arising from the myometrium layer of the uterine corpus found mesonephric remnants around the tumor. By reviewing the published UB-MNAC and UB-MLAC, we found that to our knowledge ,it is the first time finding mesonephric remnants around the MNAC cells in the reported literature, except one case that found mesonephric remnants in the cervix, and the tumors of the three cases were all arising from the myometrium layer, without endometrium involved. Then we compared the clinical characteristics of the UB-MNAC cases arising from the myometrium and endometrium, and the results showed that the two subgroups had most in common in the clinical characteristics except the myometrium subgroup had a higher elevated CA125 level, and this result was in consistent with the Kaplan-Meier survival analysis, which indicated that the myometrium subgroup had a poorer prognosis than the endometrium group. But this need more data and further study such as the molecular analysis.Conclusion Though the pathogenesis of MLAC or MNAC of the uterine corpus is still under debate, according to our cases and the published literatures, We hypothesize two different pathways involved: the MNAC arising from the myometrium not affecting the endometrium may directly develop from the mesonephric remnant, the one occurred in the endometrium may not real mesonephric adenocarcinoma, but more likely arising from mesonephric transformation of Müllerian adenocarcinoma, and is better referred as MLAC. Besides, the two kinds of adenocarcinomas may have different clinical prognosis, while the MNAC arising from the myometrium may have a poorer prognosis than the MLAC originating from the endometrium, although they have identical morphologic and histologic characteristics.

scholarly journals Generation and molecular characteristics of a highly attenuated GPV strain through adaptation in GEF cells

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Hongxia Shao ◽  
Yuchen Jiang ◽  
Huisha Yuan ◽  
Lifei Ji ◽  
Wenjie Jin ◽  
...  
Keyword(s):  
Lethal Dose ◽  
Economic Loss ◽  
Molecular Characteristics ◽  
Sequencing Analysis ◽  
Wild Type ◽  
Highly Pathogenic ◽  
Molecular Determinants ◽  
Wild Type Counterpart ◽  
Insight Into ◽  
Strain Genome

Abstract Background Goose parvoviruses (GPVs) spread globally and cause a huge economic loss to the poultry industry. Although the attenuated GPV vaccines play a key role in preventing the disease caused by GPV, the molecular basis for the attenuation of GPV is barely known. Results A highly attenuated GPV strain, GPV-CZM-142, was generated through blindly passaging of the highly pathogenic strain, GPV-CZM, in goose embryonic fibroblasts (GEF) for 142 generations. The GEF-adapted GPV strain’s virulence was 10,000 times weaker than its wild type counterpart, GPV-CZM, based on the ELD50 (50% Embryo Lethal Dose). By comparing with the wild type strain, genome sequencing analysis identified adapted mutations either in ITR or in NS and VP1 of GPV-CZM-142. Conclusions The highly attenuated GPV strain, GPV-CZM-142, provides a GPV vaccine candidate, and the identified virulence-related mutations give a novel insight into the molecular determinants of GPV virulence.

scholarly journals Role of VIA and PAP Smear in the Diagnosis of Cervical Precancers: A Study of 115 C ases

2009 ◽  
Vol 22 (2) ◽  
pp. 183-189
Author(s):  
RA Jahan ◽  
F Rahman ◽  
SM Badruddoza ◽  
TA Nasir ◽  
ANNU Ahmed ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Pap Smear ◽  
Screening Program ◽  
Precancerous Lesions ◽  
Economic Status ◽  
Invasive Cervical Cancer ◽  
Female Genital Tract ◽  
Intraepithelial Neoplasia ◽  
Punch Biopsy ◽  
Hpv Dna

Carcinoma of cervix is the most frequent neoplasm of female genital tract. In Bangladesh cervical cancer is the commonest malignancy of women. This high incidence of cervical cancer is attributed to the lack of screening program, particularly in the women of low socio-economic status. Invasive cervical cancer is preceded by a tong premalignant phase known as cervical intraepithelial neoplasia (CIN). The goal of cervical cancer screening is the detection and treatment of precancer before cancer develops. The aim of this study was to evaluate the test parameters using visual inspection with acetic acid (VIA) and cervical cytology in screening and early diagnosis of the precancerous lesions of cervix. This study deals with 115 cases from Gynecology Outpatient Department of Rajshahi Medical College, Rajshahi from July 2006 to June 2008. After vaginal examination Pap smear was collected, followed by VIA and punch biopsy of cervix. All the data were evaluated by standard statistical methods. The sensitivity of VIA was 94.11% while Pap smear was 64.7%. The specificity of Pap smear was 93.94% while VIA was 57.57%. These two tests may be considered as a suitable early detection technique in the developing countries where other test like HPV-DNA detection is a costly oneTAJ 2009; 22(1): 183-189

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