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Cancers May 2024Both cervical cancer and cervical intraepithelial neoplasia (CIN) are associated with human papillomavirus (HPV) infection at different anogenital sites, but the...
High-Risk Genotypes of Human Papillomavirus at Diverse Anogenital Sites among Chinese Women: Infection Features and Potential Correlation with Cervical Intraepithelial Neoplasia.
BACKGROUND
Both cervical cancer and cervical intraepithelial neoplasia (CIN) are associated with human papillomavirus (HPV) infection at different anogenital sites, but the infection features of high-risk (HR) HPVs at these sites and their association with cervical lesions have not been well characterized. Given the limitation of cervical HPV 16/18 test in screening patients with high-grade CIN (CIN 2+), studies on whether non-16/18 HR-HPV subtype(s) have potential as additional indicator(s) to improve CIN 2+ screening are needed.
METHODS
The infection of 15 HR-HPVs in vulva, anus, vagina, and cervix of 499 Chinese women was analyzed, and CIN lesion-associated HR-HPV subtypes were revealed.
RESULTS
In addition to the well-known cervical-cancer-associated HPV 16, 52, and 58, HPV 51, 53, and 56 were also identified as high-frequency detected subtypes prevalently and consistently present at the anogenital sites studied, preferentially in multi-infection patterns. HPV 16, 52, 58, 56, and 53 were the top five prevalent subtypes in patients with CIN 2+. In addition, we found that cervical HPV 33/35/52/53/56/58 co-testing with HPV 16/18 might improve CIN 2+ screening performance.
CONCLUSION
This study provided a new insight into HR-HPV screening strategy based on different subtype combinations, which might be used in risk stratification clinically.
PubMed: 38893229
DOI: 10.3390/cancers16112107 -
Cancers May 2024Since they are very rare tumors, lymphomas of the vulva are often not properly recognized. Patients with vulvar lymphoma are generally elderly and the classical... (Review)
Review
Since they are very rare tumors, lymphomas of the vulva are often not properly recognized. Patients with vulvar lymphoma are generally elderly and the classical manifestation of the disease is a vulvar mass. No significant age differences have been found between primary and secondary lymphoma. To make a correct diagnosis, it is therefore necessary to use not only histological examination but also the genetic and molecular profile in order to establish optimal therapeutic management. Literature analysis confirm the good prognosis of this disease.
PubMed: 38893221
DOI: 10.3390/cancers16112102 -
Infectious Agents and Cancer Jun 2024The vagina hosts a community of microorganisms known as the vaginal microbiota. This community is relatively stable and straightforward, with Lactobacillus species being... (Review)
Review
The vagina hosts a community of microorganisms known as the vaginal microbiota. This community is relatively stable and straightforward, with Lactobacillus species being the most dominant members. The vaginal microbiota has various functions that are essential for maintaining human health and balance. For example, it can metabolise dietary nutrients, produce growth factors, communicate with other bacteria, modulate the immune system, and prevent the invasion of harmful pathogens. When the vaginal microbiota is disrupted, it can lead to diseases and infections. The observed disturbance is distinguished by a reduction in the prevalence of Lactobacillus and a concurrent rise in the number of other bacterial species that exhibit a higher tolerance to low oxygen levels. Gynecologic cancers are a group of cancers that affect the female reproductive organs and tissues, such as the ovaries, uterus, cervix, vagina, vulva, and endometrium. These cancers are a major global health problem for women. Understanding the complex interactions between the host and the vaginal microorganisms may provide new insights into the prevention and treatment of gynecologic cancers. This could improve the quality of life and health outcomes for women.
PubMed: 38877504
DOI: 10.1186/s13027-024-00590-7 -
Cureus May 2024Vulvar melanoma (VM) is a rare and aggressive malignancy presenting unique challenges in diagnosis and management. This report presents the case of a 61-year-old female...
Vulvar melanoma (VM) is a rare and aggressive malignancy presenting unique challenges in diagnosis and management. This report presents the case of a 61-year-old female patient and explores the clinical characteristics, diagnostic modalities, treatment strategies, and prognosis associated with VM. The patient presented with a painless mass on the labia majora, which turned out to be an undifferentiated malignant tumor process consistent with melanoma on examination. Immunohistochemical analysis confirmed the diagnosis and subsequent imaging revealed metastatic disease necessitating palliative chemotherapy following radiotherapy. VM is a rare and aggressive form of melanoma. While surgery is the standard of care for early stages, advanced stages require a combination of immunotherapy and targeted treatments. Clinical trials are vital to improve our understanding of this condition and the various aspects of its care. Collaboration among experts is essential to achieve progress in managing these patients.
PubMed: 38872659
DOI: 10.7759/cureus.60257 -
Journal of Family & Reproductive Health Mar 2024Aggressive Angiomyxoma (AA) of the vulva is a slow-growing mesenchymal tumour with a tendency to local invasion and recurrence.
OBJECTIVE
Aggressive Angiomyxoma (AA) of the vulva is a slow-growing mesenchymal tumour with a tendency to local invasion and recurrence.
CASE REPORT
We report two cases of vulvoperineal masses that were diagnosed to be Aggressive Angiomyxomas after surgical excision. Both patients presented to the Gynaecology OPD of All India Institute of Medical Sciences, Bathinda, Punjab, India, in 2020 and 2022 with complaints of a mass coming out of introitus of three years duration and 14 years duration, respectively. The first patient was managed by surgical excision of the mass via abdominoperineal approach, while the second patient underwent vaginal hysterectomy along with the removal of the mass. Both patients were given GnRH analogues after the surgery to avoid any further recurrences and have been in remission on follow-ups so far.
CONCLUSION
Due to its rare occurrence, clinicians should consider the possibility of AA while encountering patients with vulvovaginal masses to avoid misdiagnosis and delayed management.
PubMed: 38863840
DOI: 10.18502/jfrh.v18i1.15442 -
Parasitology Research Jun 2024Mastophorus muris (Gmelin, 1790) is a globally distributed parasitic nematode of broad range mammals. The taxonomy within the genus Mastophorus and the cryptic diversity...
Mastophorus muris (Gmelin, 1790) is a globally distributed parasitic nematode of broad range mammals. The taxonomy within the genus Mastophorus and the cryptic diversity among the genus are controversial among taxonomists. This study provides a detailed morphological description of M. muris from Mus musculus combined with a molecular phylogenetic approach. Moreover, descriptions and molecular data of M. muris from non-Mus rodents and wildcats complement our findings and together provide new insights into their taxonomy. The analysis of M. muris was based on light microscopy and scanning electron microscopy. The morphological description focused on the dentition pattern of the two trilobed pseudolabia. Additionally, we described the position of the vulva, arrangement of caudal pairs of papillae, spicules and measured specimens from both sexes and the eggs. For the molecular phylogenetic approach, we amplified the small subunit ribosomal RNA gene and the internal transcribed spacer, and the cytochrome c oxidase subunit 1. Mastophorus morphotypes based on dentition patterns and phylogenetic clustering indicate a subdivision of the genus in agreement with their host. We recognize two groups without a change to formal taxonomy: One group including those specimens infecting Mus musculus, and the second group including organisms infecting non-Mus rodents. Our genetic and morphological data shed light into the cryptic diversity within the genus Mastopohorus. We identified two host-associated groups of M. muris. The described morphotypes and genotypes of M. muris allow a consistent distinction between host-associated parasites.
Topics: Animals; Phylogeny; Female; Male; Mice; Microscopy, Electron, Scanning; Spiruroidea; Electron Transport Complex IV; Genetic Variation; Sequence Analysis, DNA; Microscopy; DNA, Helminth; DNA, Ribosomal; DNA, Ribosomal Spacer; Cluster Analysis; Molecular Sequence Data
PubMed: 38856825
DOI: 10.1007/s00436-024-08259-1 -
BMC Public Health Jun 2024Human papillomavirus (HPV) infections can cause cancers of the cervix, vagina, vulva, penis, anus, and oropharynx. The most recently approved HPV vaccine, Gardasil-9,... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Human papillomavirus (HPV) infections can cause cancers of the cervix, vagina, vulva, penis, anus, and oropharynx. The most recently approved HPV vaccine, Gardasil-9, protects against HPV infection and can prevent HPV-associated invasive cancers. However, Gardasil-9 is one of the most underused vaccines in the US today. Young adults are at risk for HPV infection, but many are not vaccinated. This study uses a randomized controlled trial (RCT) to test an innovative multilevel intervention to increase HPV vaccination rates among young adults. In this paper, we describe the research protocol.
METHODS
The study uses a two by three factorial design. A total of 1200 young adults in Texas, age 18-26 years, who have not been previously fully vaccinated against HPV will be randomly assigned to one of six conditions to receive: (1) standard CDC information about HPV vaccination (control); (2) video narratives about HPV vaccination; (3) written narratives about HPV vaccination; or (4-6) enhanced access to HPV vaccine combined with (4) standard CDC information, (5) video narratives, or (6) written narratives. The two primary outcomes are the rate of HPV vaccination initiation by 3-month follow-up and rate of HPV vaccination completion by 9-month follow-ups. We will determine the impact of the individual level intervention (i.e., persuasive narratives through video or written format), the systemic level intervention (i.e., enhanced access to HPV vaccines), and the combination of both levels, on HPV vaccination initiation and completion. We will also use purposive sampling to select participants to take part in semi-structured interviews/focus groups to better understand the mechanisms of the intervention.
DISCUSSION
Recruitment and data collection began in March 2022. We expect to complete data collection by March 2026. We expect that narratives, enhanced access, and the combination of both will improve HPV vaccination initiation and completion rates among young adults. If proven successful, these individual- and system-level interventions can be easily disseminated in regions with low HPV vaccination rates to improve HPV vaccination, and ultimately decrease HPV-related cancer burden.
TRIAL REGISTRATION
NCT05057312.
Topics: Humans; Texas; Young Adult; Papillomavirus Vaccines; Papillomavirus Infections; Adolescent; Adult; Female; Male; Health Promotion; Vaccination
PubMed: 38840086
DOI: 10.1186/s12889-024-18828-9 -
Orphanet Journal of Rare Diseases Jun 2024Extramammary Paget's disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predominantly in areas with high apocrine gland concentration...
BACKGROUND
Extramammary Paget's disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predominantly in areas with high apocrine gland concentration such as the vulva, scrotum, penis and perianal regions. Here, we aim to integrate clinicopathological data with genomic analysis of aggressive, rapidly-progressing de novo metastatic EMPD responding to HER2-directed treatment in combination with other agents, to attain a more comprehensive understanding of the disease landscape.
METHODS
Immunohistochemical staining on the scrotal wall tumor and bone marrow metastasis demonstrated HER2 overexpression. Whole genome sequencing of the tumor and matched blood was performed.
RESULTS
Notable copy number gains (logFC > 0.9) on chromosomes 7 and 8 were detected (n = 81), with 92.6% of these unique genes specifically located on chromosome 8. Prominent cancer-associated genes include ZNF703, HOOK3, DDHD2, LSM1, NSD3, ADAM9, BRF2, KAT6A and FGFR1. Interestingly, ERBB2 gene did not exhibit high copy number gain (logFC = 0.4) although 90% of tumor cells stained HER2-positive. Enrichment in pathways associated with transforming growth factor-beta (TGFβ) (FDR = 0.0376, Enrichment Ratio = 8.12) and fibroblast growth factor receptor (FGFR1) signaling (FDR = 0.0082, Enrichment Ratio = 2.3) was detected. Amplicon structure analysis revealed that this was a simple-linear amplification event.
CONCLUSION
Whole genome sequencing revealed the underlying copy number variation landscape in HER2-positive metastatic EMPD. The presence of alternative signalling pathways and genetic variants suggests potential interactions with HER2 signalling, which possibly contributed to the HER2 overexpression and observed response to HER2-directed therapy combined with other agents in a comprehensive treatment regimen.
Topics: Humans; Paget Disease, Extramammary; Whole Genome Sequencing; Male; Receptor, ErbB-2; Aged; DNA Copy Number Variations
PubMed: 38831459
DOI: 10.1186/s13023-024-03169-y -
Case Reports in Women's Health Jun 2024Angiomyofibroblastoma (AMFB) represents a rare, benign mesenchymal tumor with a predilection for the vulvovaginal region. It is usually diagnosed in middle-aged women....
Angiomyofibroblastoma (AMFB) represents a rare, benign mesenchymal tumor with a predilection for the vulvovaginal region. It is usually diagnosed in middle-aged women. Histopathology and immunohistochemical study remain the key to diagnosis. Like other benign mesenchymal vulval tumors, AMFB shows indolent behavior and rarely recurs after complete surgical excision. Herein, we present a case of vulvar AMFB in a 51-year-old woman to highlight the diagnostic difficulties when considering this rare entity.
PubMed: 38827183
DOI: 10.1016/j.crwh.2024.e00617 -
Experimental and Molecular Pathology Jun 2024Shallow whole genome sequencing (Shallow-seq) is used to determine the copy number aberrations (CNA) in tissue samples and circulating tumor DNA. However, costs of NGS...
BACKGROUND
Shallow whole genome sequencing (Shallow-seq) is used to determine the copy number aberrations (CNA) in tissue samples and circulating tumor DNA. However, costs of NGS and challenges of small biopsies ask for an alternative to the untargeted NGS approaches. The mFAST-SeqS approach, relying on LINE-1 repeat amplification, showed a good correlation with Shallow-seq to detect CNA in blood samples. In the present study, we evaluated whether mFAST-SeqS is suitable to assess CNA in small formalin-fixed paraffin-embedded (FFPE) tissue specimens, using vulva and anal HPV-related lesions.
METHODS
Seventy-two FFPE samples, including 36 control samples (19 vulva;17 anal) for threshold setting and 36 samples (24 vulva; 12 anal) for clinical evaluation, were analyzed by mFAST-SeqS. CNA in vulva and anal lesions were determined by calculating genome-wide and chromosome arm-specific z-scores in comparison with the respective control samples. Sixteen samples were also analyzed with the conventional Shallow-seq approach.
RESULTS
Genome-wide z-scores increased with the severity of disease, with highest values being found in cancers. In vulva samples median and inter quartile ranges [IQR] were 1[0-2] in normal tissues (n = 4), 3[1-7] in premalignant lesions (n = 9) and 21[13-48] in cancers (n = 10). In anal samples, median [IQR] were 0[0-1] in normal tissues (n = 4), 14[6-38] in premalignant lesions (n = 4) and 18[9-31] in cancers (n = 4). At threshold 4, all controls were CNA negative, while 8/13 premalignant lesions and 12/14 cancers were CNA positive. CNA captured by mFAST-SeqS were mostly also found by Shallow-seq.
CONCLUSION
mFAST-SeqS is easy to perform, requires less DNA and less sequencing reads reducing costs, thereby providing a good alternative for Shallow-seq to determine CNA in small FFPE samples.
Topics: Humans; Female; DNA Copy Number Variations; Paraffin Embedding; High-Throughput Nucleotide Sequencing; Formaldehyde; Tissue Fixation; Whole Genome Sequencing; Vulvar Neoplasms; Papillomavirus Infections; Anus Neoplasms
PubMed: 38820761
DOI: 10.1016/j.yexmp.2024.104906