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Molecular Diagnosis & Therapy Mar 2024Anal squamous cell carcinoma (ASCC) is a rare gastrointestinal malignancy associated with high-risk human papillomavirus (HPV) and is currently one of the... (Review)
Review
Anal squamous cell carcinoma (ASCC) is a rare gastrointestinal malignancy associated with high-risk human papillomavirus (HPV) and is currently one of the fastest-growing causes of cancer incidence and mortality in developed countries. Although next-generation sequencing technologies (NGS) have revolutionized cancer and immuno-genomic research in various tumor types, a limited amount of clinical research has been developed to investigate the expression and the functional characterization of genomic data in ASCC. Herein, we comprehensively assess recent advancements in "omics" research, including a systematic analysis of genome-based studies, aiming to identify the most relevant ASCC cancer driver gene expressions and their associated signaling pathways. We also highlight the most significant biomarkers associated with anal cancer progression, gene expression of potential diagnostic biomarkers, expression of therapeutic drug targets, and emerging treatment opportunities. This review stresses the urgent need for developing target-specific therapies in ASCC. By illuminating the molecular characteristics and drug-target expression in ASCC, this study aims to provide insights for the development of precision medicine in anal cancer.
Topics: Humans; Biomarkers; Anus Neoplasms; Carcinoma, Squamous Cell; Genomics; Neoplasm Recurrence, Local
PubMed: 38267771
DOI: 10.1007/s40291-023-00692-9 -
Frontiers in Medicine 2023Intussusception refers to the invagination of a proximal loop of the bowel into an adjacent distal segment. This condition is rare in adults, especially when it involves...
Intussusception refers to the invagination of a proximal loop of the bowel into an adjacent distal segment. This condition is rare in adults, especially when it involves a complete folding of the ileocecal area out of the body cavity. Meanwhile, enterogenous cysts are congenital malformations that are largely identified in childhood following symptoms of bowel obstruction. While surgical treatment is ultimately required for both diseases, deciding on the type of surgery and the right time to operate can be a challenge for clinicians. It is especially difficult to decide on treatment for an adult with the coincidental occurrence of both conditions and no definitive pathologic diagnosis prior to surgery. Here, we present the case study of a 19-year-old female patient who presented with a prolapsed anus due to intussusception caused by a large ileocecal mass. The patient was admitted to the emergency department with a "massive anal mass." She remained symptomatic after receiving conventional conservative treatment and had to undergo emergency surgery after developing an intestinal obstruction. While the patient's intraoperative condition also confirmed the preoperative CT findings, the situation became more complicated during surgery. The postoperative pathological report indicated the presence of an enterogenous cyst. After recovery from surgery, the patient was successfully discharged. Intussusception or intestinal obstruction caused by an intestinal mass is a surgical indication, and removal is the only way to cure the condition. This case study provides a helpful reference for general surgeons, especially anorectal surgeons, imaging physicians, and pathologists, and informs the diagnosis and treatment of this patient population.
PubMed: 38249983
DOI: 10.3389/fmed.2023.1324792 -
Frontiers in Public Health 2023Ongoing Monkeypox (MPX) outbreaks in countries outside Africa have unique characteristics. However, data on cohorts of confirmed cases in China is limited. The study...
PURPOSE
Ongoing Monkeypox (MPX) outbreaks in countries outside Africa have unique characteristics. However, data on cohorts of confirmed cases in China is limited. The study provides important epidemiological, diagnostic, and clinical information about this disease in China.
METHODS
We report a series of Chinese individuals with confirmed MPX infections identified at Beijing Youan Hospital (China) from June 10 to July 15, 2023. Samples were taken from the skin, anus, throat, and blood. An epidemiological questionnaire was used to collect demographic and clinical data. Further, we compared the MPX viral (MPXV) loads across different anatomical sites.
RESULTS
66 samples were collected from 20 patients, all of whom were cisgender men. Median patient age was 29 years. Notably, 19 (95%) patients reported unprotected sexual encounters with men in the preceding month, and 13 (65%) were human immunodeficiency virus (HIV)-positive. Among those with HIV, 12 (92%) were receiving antiretroviral therapy, and 11 (85%) had well-controlled infections (HIV viral load <40/mL). The median CD4+ T cell count was 667 cells/mm. In the HIV-negative group, three (43%) patients were taking preexposure prophylaxis. Fifteen patients (75%) had concurrent sexually transmitted infections (50% had syphilis and 65% had HIV) and eight (40%) had HIV and syphilis co-infection. MPXV loads were significantly higher in samples from the skin (cycle threshold value [Ct value]: 19·0) and anus (Ct value: 23.0) compared to samples from the throat (Ct value: 31.0) or blood (Ct value: 34.5). All patients had skin lesions (85% of whom presented with anogenital lesions). Common systemic symptoms included fever (85%) and lymphadenopathy (55%). The median incubation period was 8 d [interquartile range (IQR): 6-16 d]. The median time from the onset of skin lesions to scab removal was 14 d (IQR: 10-16 d). No deaths or severe cases were reported.
CONCLUSION
MPXV primarily affects young homosexual men. The high MPXV viral loads in skin and anal lesions indicate that transmission most likely occurs through direct and close body contact. This study also reports high rates of HIV and syphilis co-infection. Therefore, preventive efforts should focus on homosexual men.
Topics: Adult; Humans; Male; Asian People; Coinfection; Mpox (monkeypox); Syphilis; HIV Infections; China; Sexual and Gender Minorities
PubMed: 38249378
DOI: 10.3389/fpubh.2023.1276821 -
HIV Medicine Jul 2024Women living with HIV (WLWH) are at increased risk of human papillomavirus (HPV)-related cancers. Throughout Europe, there is great heterogeneity among guidelines for... (Review)
Review
BACKGROUND
Women living with HIV (WLWH) are at increased risk of human papillomavirus (HPV)-related cancers. Throughout Europe, there is great heterogeneity among guidelines for screening programmes, access to HPV testing and HPV vaccination. The aim of this systematic review is to summarize available data on screening and prevention measures for HPV-related anogenital cancers in WLWH across the WHO European Region (WER).
METHODS
The systematic review followed the PRISMA guidelines and was registered on Prospero. PubMed, Embase and Web of Science databases were searched to identify available studies, written in English and published between 2011 and 2022. A metanalysis was conducted using random-effects models to calculate pooled prevalence of HPV. Subgroup analyses were conducted according to country and HPV testing.
RESULTS
Thirty-four articles involving 10 336 WLWH met the inclusion criteria. Studies were heterogenous in their methodology and presentation of results: 73.5% of studies focused on cervical cancer prevention, and only 4.4% on anal cancer; 76.5% of studies conducted HPV testing as a routine part of screening. The prevalence of high-risk HPV was 30.5-33.9% depending on the detection method used. A total of 77% of WLWH had cervical cytology results reported. Six studies reported the positive association of CD4 cell count <200 cells/μL with HPV prevalence and cervical abnormalities. Anal HPV testing was conducted in <8% of participants. HPV vaccination was completed in 5.6% of women (106/1902) with known vaccination status. There was no information about the vaccination status of the majority of women in the analysed studies (8434/10336).
CONCLUSION
Data about screening of HPV-related anogenital cancer in WLWH in Europe are heterogenous and lacking, especially in relation to anal cancer. HPV DNA testing is not routinely done as part of screening for HPV-related cancer; guidelines should include indications for when to use this test. Low CD4 count is a risk factor for HPV infection and cytological abnormalities. HPV vaccination data are poor and, when available, vaccination rates are very low among WLWH in Europe. This review concludes that significant improvements are required for data and also consistency on guidelines for HPV screening, prevention and vaccination in WLWH.
Topics: Humans; Female; Papillomavirus Infections; Europe; HIV Infections; Anus Neoplasms; Early Detection of Cancer; Prevalence; Papillomavirus Vaccines; Mass Screening; Adult; Uterine Cervical Neoplasms; Middle Aged
PubMed: 38238990
DOI: 10.1111/hiv.13602 -
Techniques in Coloproctology Jan 2024In France, about 2000 new cases of anal cancer are diagnosed annually. Squamous cell carcinoma is the most common histological type, mostly occurring secondary to... (Review)
Review
In France, about 2000 new cases of anal cancer are diagnosed annually. Squamous cell carcinoma is the most common histological type, mostly occurring secondary to persistent HPV16 infection. Invasive cancer is preceded by precancerous lesions. In addition to patients with a personal history of precancerous lesions and anal cancer, three groups are at very high risk of anal cancer: (i) men who have sex with men and are living with HIV, (ii) women with a history of high-grade squamous intraepithelial lesions (HSILs) or vulvar HPV cancer, and (iii) women who received a solid organ transplant more than 10 years ago. The purpose of screening is to detect HSILs so that they can be treated, thereby reducing the risk of progression to cancer. All patients with symptoms should undergo a proctological examination including standard anoscopy. For asymptomatic patients at risk, an initial HPV16 test makes it possible to target patients at risk of HSILs likely to progress to cancer. Anal cytology is a sensitive test for HSIL detection. Its sensitivity is greater than 80% and exceeds that of proctological examination with standard anoscopy. It is indicated in the event of a positive HPV16 test. In the presence of cytological abnormalities and/or lesions and a suspicion of dysplasia on clinical examination, high-resolution anoscopy is indicated. Performance is superior to that of proctological examination with standard anoscopy. However, this technique is not widely available, which limits its use. If high-resolution anoscopy is not possible, screening by a standard proctological examination is an alternative. There is a need to develop high-resolution anoscopy and triage tests and to evaluate screening strategies.
Topics: Male; Humans; Female; Human Papillomavirus Viruses; Homosexuality, Male; Sexual and Gender Minorities; Precancerous Conditions; Anus Neoplasms
PubMed: 38198036
DOI: 10.1007/s10151-023-02899-8 -
Journal of Gastrointestinal Cancer Jun 2024Ano-uro-genital (AUG) Mucosal Melanoma UK guidelines recommended a less radical surgical strategy for anorectal melanoma (ARM) where possible. We report our experience...
PURPOSE
Ano-uro-genital (AUG) Mucosal Melanoma UK guidelines recommended a less radical surgical strategy for anorectal melanoma (ARM) where possible. We report our experience of ARM consistent with that approach including clinical presentation, intervention undertaken and prognosis.
METHODS
We present a retrospective study of 15 consecutive patients with ARM surgically treated between November 2014 and April 2023. Patients were divided into the two surgery types: wide local excision (WLE, n = 9) and abdominoperineal resection (APR, n = 6). Data on demographics, diagnosis, treatment and oncological outcomes were assessed between the groups.
RESULTS
The mean age was 65.3 ± 17.4 years and 6 (40.0%) were female patients. Nine patients (60.0%) were diagnosed with stage I and six patients (40.0%) with stage II disease. R0 margins were achieved in all cases. The overall mean length of stay was lower following WLE compared to APR (2.6 ± 2.4 days versus 14.0 ± 9.8 days, p = 0.032). Two complications were observed in the WLE group compared to four complications after APR (p = 0.605). Five patients (55.5%) developed local/distant recurrence in the WLE group compared to three patients (50.0%) in the APR group (p = 0.707), with a median overall survival of 38.5 (12-83) months versus 26.5 (14-48) months, respectively.
CONCLUSIONS
Achieving clear margins by the least radical fashion may have equivalent oncological outcomes to radical surgery, potentially reducing patient morbidity and preserving function. In our experience, the surgical management of ARM consistent with the 'less is more' approach adhering to AUG guidelines has acceptable outcomes.
Topics: Humans; Melanoma; Female; Male; Aged; Retrospective Studies; Middle Aged; Anus Neoplasms; Rectal Neoplasms; Aged, 80 and over; Adult; Neoplasm Recurrence, Local; Margins of Excision; Prognosis; Proctectomy; Neoplasm Staging; Treatment Outcome
PubMed: 38180677
DOI: 10.1007/s12029-023-01009-z -
Cureus Dec 2023Background Natural orifice specimen extraction (NOSE) involves the removal of specimens through a naturally occurring orifice, such as the anus, rather than...
Background Natural orifice specimen extraction (NOSE) involves the removal of specimens through a naturally occurring orifice, such as the anus, rather than trans-abdominal extraction. NOSE procedures have been shown to significantly reduce postoperative complications and improve healing. Objective The purpose of this case series is to report the outcomes of 27 patients undergoing sigmoidectomies through natural orifice specimen extraction. Materials and methods We carefully recorded demographic data on age and BMI, as well as operative data on surgical indication, and length of stay. We also collected data on postoperative complications, including infection, hernia, wound dehiscence, urinary tract infections (UTIs), or anastomotic leaks. Results Our patients were majority female ( = 21, 77.8%) with a median age of 53.5 (range: 25-79) and median BMI of 33.2 kg/m (range: 16.7 - 48.3 kg/m). Thirteen patients (48.1%) were obese (BMI > 30.0 kg/m). The majority of these patients underwent sigmoidectomies for benign conditions such as recurrent diverticulitis ( = 9, 33.3%), rectal prolapse ( = 8, 29.6%), perforated diverticulitis ( = 3, 11.1%), colovesical fistula ( = 3, 11.1%), and abdominal abscess ( = 3, 11.1%) (Table 1). One patient was receiving treatment for sigmoid cancer. The average estimated blood loss was 63.26 mL. The average hospital stay was 3.61 days. Three patients (11.1%) developed a fever postoperatively (temperature >= 100.4 F), which resolved the day after. One patient completed a post-operative hospital stay of 19 days for dialysis and rehab placement. No patients (0.0%) experienced any postoperative complications, including wound infection, hernia, dehiscence, UTIs, or anastomotic leakages. There was no postoperative mortality. Conclusions Our study demonstrates the practicality and safety of NOSE procedures for sigmoidectomies as an alternative to transabdominal approaches to treat benign colon diseases.
PubMed: 38174165
DOI: 10.7759/cureus.49902 -
Frontiers in Oncology 2023Anal adenocarcinoma combined with perianal Paget's disease (PPD) involving the vulva is rare, and there is no established standard treatment. We present the case of a...
Anal adenocarcinoma combined with perianal Paget's disease (PPD) involving the vulva is rare, and there is no established standard treatment. We present the case of a 69-year-old woman with symptoms of intermittent hematochezia and perianal discomfort for 7 months. Upon examination, we discovered a plaque-like hard mass on the right posterior wall of the anal canal, which extended to encompass the anus and dentate line. The lesion skin also extended forward from the gluteal groove, involving the bilateral labial area. Colonoscopy revealed an extensive protruding lesion on the dentate line, which was confirmed as anal adenocarcinoma (mrT4N0M0). The presence of Paget's cells in perianal and vulvar skins led to the diagnosis of PPD. The strategy of neoadjuvant chemoradiotherapy (nCRT) followed by radical surgery was then made after multi-disciplinary discuss. The scope and extent of perianal and vulvar disease were significantly diminished after nCRT. The patient underwent laparoscopic abdominoperineal resection and vulvar lesion resection, confirming the diagnosis of anal adenocarcinoma (ypT2N0). No evidence of tumor cells was found in perianal and vulvar skin, indicating a complete response. The patient is regularly monitored without recurrence or metastasis.
PubMed: 38162507
DOI: 10.3389/fonc.2023.1327173 -
Tumour Virus Research Jun 2024DNA methylation testing on biopsies can detect high-grade anal intraepithelial neoplasia (HGAIN) in need of treatment and anal cancer. This study aimed to analytically...
DNA methylation testing on biopsies can detect high-grade anal intraepithelial neoplasia (HGAIN) in need of treatment and anal cancer. This study aimed to analytically validate and determine the diagnostic performance of a newly developed multiplex quantitative methylation-specific PCR, PreCursor-M AnoGYN (RUO), combining ASCL1, ZNF582 and a reference (ACTB) in one assay. Analytical validation was performed on two qPCR devices using predefined quality criteria. Diagnostic performance was determined on a cross-sectional series of 111 anal biopsies covering all stages of anal disease. Differences in methylation levels were assessed using the Kruskal-Wallis test. Area under the curve was determined using logistic regression analysis. Detection rates were calculated at predefined specificities for the cross-sectional and an additional longitudinal series of 23 HGAIN biopsies preceding anal cancer (i.e., progressive HGAIN). For both devices analytical quality criteria were met. ASCL1 and ZNF582 methylation levels increased with increasing severity of disease (p < 6*10). Diagnostic performance for AIN3 was 0.81. All cancers and virtually all progressive HGAIN were detected at 70% and 80% specificity. In conclusion, the ASCL1/ZNF582 methylation test (PreCursor-M AnoGYN (RUO)) was demonstrated to be highly robust and reproducible. Moreover, it had excellent diagnostic accuracy to detect AIN3 and can potentially be used to guide HGAIN management.
Topics: Humans; Anus Neoplasms; DNA Methylation; Male; Female; Middle Aged; Basic Helix-Loop-Helix Transcription Factors; Cross-Sectional Studies; Aged; Kruppel-Like Transcription Factors; Carcinoma in Situ; Adult; Sensitivity and Specificity; Biomarkers, Tumor; Aged, 80 and over; Biopsy
PubMed: 38160718
DOI: 10.1016/j.tvr.2023.200275 -
Diseases of the Colon and Rectum Apr 2024Surgical treatment of complex perianal fistula is technically challenging, associated with risk of failure, and may require multiple procedures. In recent years, several...
BACKGROUND
Surgical treatment of complex perianal fistula is technically challenging, associated with risk of failure, and may require multiple procedures. In recent years, several biologic agents have been developed for permanently eradicating anal fistulous disease with variable success. In this study, the treatment is an autologous whole-blood product created from the patients' blood. It forms a provisional matrix that was found to be safe and effective in healing acute and chronic cutaneous wounds.
OBJECTIVE
The study aimed to assess the efficacy and safety of an autologous blood clot product as a treatment for transsphincteric perianal fistulas.
DESIGN
A prospective single-arm study.
SETTINGS
A single tertiary medical center.
PATIENTS
Patients with simple or complex transsphincteric fistulas confirmed by MRI were included in the study. Cause was either cryptoglandular or Crohn's disease related (in the absence of active luminal bowel disease).
INTERVENTION
The outpatient procedure was performed under general anesthesia and consisted of: 1) physical debridement and cleansing of the fistula tract; 2) suture closure of the internal opening; and 3) instillation of the autologous blood clot product into the entire tract.
MAIN OUTCOME MEASURES
Safety and efficacy at 6- and 12-months after surgery.
RESULTS
Fifty-three patients (77% men) with a median age of 42 (20-72) years were included in the study. Three patients withdrew consent, and 1 patient was lost to follow-up. At the time of this interim analysis, 49 and 33 patients completed the 6- and 12-month follow-up period. Thirty-four of the 49 patients achieved complete healing (69%) at 6 months, but 20 of the 33 patients (60%) achieved healing after 1 year. All patients who achieved healing at 6 months remained healed at the 1-year mark. In a subgroup analysis of patients with Crohn's disease, 7 of 9 patients completed 1-year follow-up, with 5 patients (71%) achieving clinical remission. No major side effects or postoperative complications were noted, but 2 adverse events occurred (admission for pain control and coronavirus 2019 infection).
LIMITATIONS
Noncomparative single-arm pilot study.
CONCLUSIONS
Treatment with an autologous blood clot product in perianal fistular disease was found to be feasible and safe, with an acceptable healing rate in both cryptoglandular and Crohn's disease fistula-in-ano. Further comparative assessment is required to determine its potential role in the treatment paradigm of fistula-in-ano. See Video Abstract .
BRAZO PARA EVALUAR LA SEGURIDAD Y EFICACIA DE RDVER, UN COGULO DE SANGRE AUTLOGO, EN EL TRATAMIENTO DE LA FSTULA ANAL
ANTECEDENTES:El tratamiento quirúrgico de la fístula perianal compleja es técnicamente desafiante, se asocia con riesgo de fracaso y puede requerir múltiples procedimientos. En los últimos años, se han desarrollado varios agentes biológicos con el fin de erradicar permanentemente la enfermedad fistulosa anal con éxito variable. El tratamiento RD2-Ver.02 es un producto de sangre total autólogo creado a partir de la sangre de los pacientes, que forma una matriz provisional que resultó segura y eficaz para curar heridas cutáneas agudas y crónicas.OBJETIVO:Evaluar la eficacia y seguridad de RD2-Ver.02 como tratamiento para las fístulas perianales transesfinterianas.DISEÑO:Un estudio prospectivo de un solo brazo.LUGARES:Un único centro médico terciario.PACIENTES:Se incluyeron en el estudio pacientes con fístulas transesfinterianas simples o complejas confirmadas mediante resonancia magnética. La etiología fue criptoglandular o relacionada con la enfermedad de Crohn (en ausencia de enfermedad intestinal luminal activa).INTERVENCIÓN:El procedimiento ambulatorio se realizó bajo anestesia general y consistió en: 1) desbridamiento físico y limpieza del trayecto fistuloso; 2) cierre con sutura de la abertura interna; y 3) instilación de RD2-Ver.02 en todo el tracto.PRINCIPALES MEDIDAS DE VALORACIÓN:Seguridad y eficacia a los 6 y 12 meses después de la cirugía.RESULTADOS:Se incluyeron en el estudio 53 pacientes (77% varones) con una mediana de edad de 42 (20-72) años. Tres pacientes retiraron su consentimiento y un paciente se perdió durante el seguimiento. En el momento de este análisis intermedio, 49 y 33 pacientes completaron el período de seguimiento de 6 y 12 meses, respectivamente. Treinta y cuatro (34) pacientes lograron una curación completa (69%) a los 6 meses, mientras que 20 de 33 pacientes (60%) lograron una curación después de un año. Todos los pacientes que lograron la curación a los 6 meses permanecieron curados al año. En un análisis de subgrupos de pacientes con enfermedad de Crohn, 7/9 pacientes completaron un seguimiento de un año y 5 pacientes (71%) alcanzaron la remisión clínica. No se observaron efectos secundarios importantes ni complicaciones postoperatorias, mientras que ocurrieron 2 eventos adversos (ingreso para control del dolor e infección por COVID-19).LIMITACIONES:Estudio piloto no comparativo de un solo brazo.CONCLUSIONES:Se encontró que el tratamiento con RD2-Ver.02 en la enfermedad fístula perianal es factible y seguro, con una tasa de curación aceptable tanto en la fístula criptoglandular como en la de Crohn en el ano. Se requiere una evaluación comparativa adicional para determinar su papel potencial en el paradigma de tratamiento de la fístula anal. (Pre-proofed version ).
Topics: Male; Humans; Adult; Middle Aged; Aged; Female; Treatment Outcome; Crohn Disease; Prospective Studies; Pilot Projects; Rectal Fistula; Anus Diseases
PubMed: 38149981
DOI: 10.1097/DCR.0000000000003190