ABSTRACT
The perianal disease affects up to one-third of individuals with Crohn's disease (CD), causing disabling symptoms and significant impairment in quality of life, particularly for those with perianal fistulising CD (PFCD). The collaborative effort between gastroenterologists and surgeons is essential for addressing PFCD to achieve fistula closure and promote luminal healing. Limited fistula healing rates with conventional therapies have prompted the emergence of new biological agents, endoscopic procedures and surgical techniques that show promising results. Among these, mesenchymal stem cells injection is a particularly hopeful therapy. In addition to the burden of fistulas, individuals with perianal CD may face an increased risk of developing anal cancer. This underscores the importance of surveillance programmes and timely interventions to prevent late diagnoses and poor outcomes. Currently, there is no established formal anal screening programme. In this review, we provide an overview of the current state of the art in managing PFCD, including novel medical, endoscopic and surgical approaches. The discussion also focuses on the relevance of establishing an anal cancer screening programme in CD, intending to propose a risk-based surveillance algorithm. The validation of this surveillance programme would be a significant step forward in improving patient care and outcomes.
Subject(s)
Anus Neoplasms , Crohn Disease , Early Detection of Cancer , Rectal Fistula , Humans , Anus Neoplasms/therapy , Anus Neoplasms/diagnosis , Anus Neoplasms/epidemiology , Anus Neoplasms/pathology , Rectal Fistula/therapy , Rectal Fistula/etiology , Rectal Fistula/diagnosis , Rectal Fistula/epidemiology , Crohn Disease/therapy , Crohn Disease/diagnosis , Crohn Disease/complications , Crohn Disease/epidemiology , Early Detection of Cancer/methods , Quality of Life , Anal Canal/surgery , Anal Canal/pathology , Risk FactorsABSTRACT
Knowledge of Human Polyomavirus (HPyV) infection in the anal area and its association with sexually transmitted infections such as Human Papillomavirus (HPV) and Human Immunodeficiency Virus (HIV) remains limited. Therefore, anal specimens from 150 individuals of both sexes were analyzed for screening purposes. HPV DNA was found in 50.7% of cases, with a predominance of high-risk (HR) genotypes. HPyV DNA was found in 39.3% of samples, with Merkel Cell Polyomavirus (MCPyV) being the most common, with a higher viral load than JCPyV and BKPyV. In addition, MCPyV viral load increased in people living with HIV (PLWH) with HPV infection (p < 0.0001).
Subject(s)
Coinfection , HIV Infections , Merkel cell polyomavirus , Papillomavirus Infections , Polyomavirus Infections , Viral Load , Humans , Male , Female , HIV Infections/virology , HIV Infections/complications , Papillomavirus Infections/virology , Adult , Middle Aged , Coinfection/virology , Coinfection/epidemiology , Merkel cell polyomavirus/genetics , Merkel cell polyomavirus/isolation & purification , Polyomavirus Infections/virology , Polyomavirus Infections/epidemiology , DNA, Viral/genetics , Genotype , Anal Canal/virology , Anal Canal/pathology , Aged , Young Adult , Papillomaviridae/genetics , Papillomaviridae/isolation & purification , Papillomaviridae/classification , Tumor Virus Infections/virology , Tumor Virus Infections/epidemiology , PrevalenceABSTRACT
It has not yet been proven whether sepsis affects the tissue around the anal canal. To address this issue, we established three-dimensional models for various types of anorectal abscesses and utilize 3D reconstruction of Magnetic Resonance Imaging scans to assess the extent of muscle damage caused by anorectal abscesses. Patients diagnosed with anorectal abscess, selected from January 2019 to January 2022 underwent pre- and post-operative scanning of pelvic floor and perianal tissues. The aforementioned structures were segmented for the reconstruction of a three-dimensional visual model and measurement of volumes for the abscess as well as the internal and external sphincters and levator ani muscle. The study included a total of 42 patients. Three-dimensional visualization models were created for different types of anorectal abscesses, including perianal, intersphincteric, ischiorectal, and supralevator abscesses. No statistically significant differences were observed in the volume of the internal sphincter, external sphincter, and levator ani muscle between pre- and post-operative patients. The 3D model of anorectal abscess, reconstructed from MRI data, offers a precise and direct visualization of the anatomical structures associated with various types of anorectal abscesses. The infection did not result in any damage to the internal and external anal sphincter and levator ani muscle.
Subject(s)
Abscess , Anal Canal , Imaging, Three-Dimensional , Magnetic Resonance Imaging , Humans , Magnetic Resonance Imaging/methods , Male , Female , Imaging, Three-Dimensional/methods , Abscess/diagnostic imaging , Abscess/pathology , Middle Aged , Adult , Anal Canal/diagnostic imaging , Anal Canal/pathology , Aged , Anus Diseases/diagnostic imaging , Anus Diseases/pathology , Rectal Diseases/diagnostic imaging , Rectal Diseases/pathology , Pelvic Floor/diagnostic imaging , Pelvic Floor/pathologyABSTRACT
ABSTRACT: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad.
Subject(s)
Anal Canal , Digestive System Abnormalities , Rectum , Sacrum , Syringomyelia , Teratoma , Humans , Teratoma/pathology , Teratoma/surgery , Teratoma/diagnosis , Male , Anal Canal/abnormalities , Anal Canal/surgery , Anal Canal/pathology , Sacrum/abnormalities , Sacrum/surgery , Sacrum/pathology , Digestive System Abnormalities/surgery , Digestive System Abnormalities/diagnosis , Digestive System Abnormalities/pathology , Digestive System Abnormalities/genetics , Syringomyelia/surgery , Syringomyelia/genetics , Syringomyelia/pathology , Syringomyelia/diagnosis , Syringomyelia/diagnostic imaging , Infant , Rectum/abnormalities , Rectum/surgery , Rectum/pathology , Anus, Imperforate/surgery , Anus, Imperforate/diagnosis , Anus, Imperforate/genetics , Anus, Imperforate/pathologyABSTRACT
We assessed cumulative detection and determinants of anal high-grade squamous intraepithelial lesions (HSILs) in men who have sex with men living with human immunodeficiency virus and who underwent 3 visits over 2 years, with cytology and high-resolution anoscopy, within the ANRS-EP57-APACHES study. The cumulative HSIL detection rate was 33% (134 of 410), of which 48% HSILs were detected at baseline. HSIL detection varied considerably by center (from 13% to 51%). The strongest HSIL determinants were baseline human papillomavirus 16 (adjusted odds ratio, 8.2; 95% confidence interval, 3.6-18.9) and p16/Ki67 (4.6 [2.3-9.1]). Repeated annual cytology and high-resolution anoscopy improved HSIL detection but did not fully compensate for between-center heterogeneity.
Subject(s)
Anus Neoplasms , HIV Infections , Homosexuality, Male , Papillomavirus Infections , Squamous Intraepithelial Lesions , Humans , Male , HIV Infections/complications , Squamous Intraepithelial Lesions/virology , Squamous Intraepithelial Lesions/pathology , France/epidemiology , Adult , Anus Neoplasms/virology , Anus Neoplasms/diagnosis , Anus Neoplasms/epidemiology , Anus Neoplasms/pathology , Middle Aged , Papillomavirus Infections/virology , Papillomavirus Infections/complications , Papillomavirus Infections/diagnosis , Follow-Up Studies , Anal Canal/virology , Anal Canal/pathology , Human papillomavirus 16/isolation & purification , Sexual and Gender MinoritiesABSTRACT
BACKGROUND: Superficially invasive squamous cell carcinoma (SISCC) and high-grade squamous intraepithelial lesions (HSIL) involving the anal canal are rare, and their surgical management involves local excision. Endoscopic submucosal dissection (ESD) has recently emerged as a promising treatment. This study aimed to evaluate the feasibility and safety of ESD for SISCC and HSIL in the anal canal. METHODS: All patients diagnosed with SISCC or HSIL in the anal canal who underwent ESD between November 2018 and May 2023 were included. Patient age, sex, pathology, human immunodeficiency virus (HIV) status, human papillomavirus (HPV) status, T stage, en bloc rate, and R0 resection rate were analyzed. RESULTS: Ten patients, including two men and eight women, with a median age of 61 (51-68) years were enrolled. All patients were HIV-negative, but five (50%) were HPV-positive. Pathological examination showed tumor stage of two patients as T2, one as T0 of SISCC, and seven as Tis of HSIL. The median specimen and tumor sizes were 24 (6-65) mm and 18 (6-55) mm, respectively. The en bloc and R0 resection rates were 100% and 80%, respectively. No severe complications occurred and no recurrence was observed at the follow-up (median follow-up period, 9 (1-35) months). CONCLUSIONS: ESD is a reliable and minimally invasive procedure that enables more individualized treatment options for specific groups. As we were limited by the length of the observation period, the long-term performance of ESD for SISCC and HSIL involving the anal canal requires further investigation.
Subject(s)
Anal Canal , Anus Neoplasms , Carcinoma, Squamous Cell , Endoscopic Mucosal Resection , Squamous Intraepithelial Lesions , Humans , Male , Middle Aged , Female , Endoscopic Mucosal Resection/methods , Aged , Anus Neoplasms/surgery , Anus Neoplasms/pathology , Carcinoma, Squamous Cell/surgery , Carcinoma, Squamous Cell/pathology , Squamous Intraepithelial Lesions/surgery , Squamous Intraepithelial Lesions/pathology , Squamous Intraepithelial Lesions/virology , Anal Canal/surgery , Anal Canal/pathology , Feasibility Studies , Treatment Outcome , Neoplasm Invasiveness , Retrospective Studies , Neoplasm StagingABSTRACT
BACKGROUND: Anal cancer is caused by human papillomavirus (HPV), particularly HPV-16, and is preceded by anal high-grade squamous intraepithelial lesions (HSILs). The incidence of anal cancer is highest among men who have sex with men (MSM) living with HIV (MSMLWH) and increases with age. However, most previous studies of anal HPV infection and anal HSIL were performed on men under 50 years old, and relatively little is known about HSIL among older MSMLWH or MSM not living with HIV (MSM-Not-LWH). SETTING: We enrolled MSM who were aged 50+ during 2018-2022 in San Francisco, CA. METHODS: One hundred twenty-nine MSMLWH and 109 MSM-not-LWH participated. All participants had anal HPV DNA testing (Atila Biosystems) and high-resolution anoscopy with a biopsy of visible lesions. RESULTS: Among MSMLWH, 47% had anal HSIL, 19% had HPV-16, and 51% had other oncogenic anal HPV types (excluding HPV-16). Among MSM-not-LWH, 37% had anal HSIL, 22% had HPV-16, and 34% had other oncogenic anal HPV types. Increasing age was not statistically associated with prevalent HSIL, HPV-16, or other oncogenic HPV infections in MSMLWH or MSM-not-LWH. HPV-16 (odds ratio: 45.1, 95% confidence interval: 15.8-129); other oncogenic HPV types (odds ratio: 5.95, 95% confidence interval: 2.74-12.9) were associated with increased odds of anal HSIL, adjusted for age, income, education, and HIV status. CONCLUSION: The prevalence of oncogenic anal HPV, anal HPV-16, and anal HSIL remains very high in older MSMLWH and MSM-not-LWH. With recent evidence showing that treating anal HSIL prevents anal cancer, MSM aged 50+ should be considered for anal cancer screening.
Subject(s)
Anus Neoplasms , HIV Infections , Homosexuality, Male , Papillomavirus Infections , Squamous Intraepithelial Lesions , Humans , Male , Papillomavirus Infections/epidemiology , Papillomavirus Infections/complications , Middle Aged , HIV Infections/complications , HIV Infections/epidemiology , Prevalence , Squamous Intraepithelial Lesions/virology , Squamous Intraepithelial Lesions/epidemiology , Squamous Intraepithelial Lesions/pathology , Anus Neoplasms/epidemiology , Anus Neoplasms/virology , Aged , San Francisco/epidemiology , Anal Canal/virology , Anal Canal/pathology , Papillomaviridae/genetics , Papillomaviridae/isolation & purificationABSTRACT
Men who have sex with men (MSM) with HIV are at high risk for squamous intraepithelial lesion (SIL) and anal cancer. Identifying local immunological mechanisms involved in the development of anal dysplasia could aid treatment and diagnostics. Here, we studied 111 anal biopsies obtained from 101 MSM with HIV, who participated in an anal screening program. We first assessed multiple immune subsets by flow cytometry, in addition to histological examination, in a discovery cohort. Selected molecules were further evaluated by immunohistochemistry in a validation cohort. Pathological samples were characterized by the presence of resident memory T cells with low expression of CD103 and by changes in natural killer cell subsets, affecting residency and activation. Furthermore, potentially immunosuppressive subsets, including CD15+CD16+ mature neutrophils, gradually increased as the anal lesion progressed. Immunohistochemistry verified the association between the presence of CD15 in the epithelium and SIL diagnosis for the correlation with high-grade SIL. A complex immunological environment with imbalanced proportions of resident effectors and immune-suppressive subsets characterized pathological samples. Neutrophil infiltration, determined by CD15 staining, may represent a valuable pathological marker associated with the grade of dysplasia.
Subject(s)
Anus Neoplasms , HIV Infections , Lewis X Antigen , Humans , Male , HIV Infections/immunology , HIV Infections/complications , HIV Infections/pathology , Anus Neoplasms/pathology , Anus Neoplasms/immunology , Adult , Middle Aged , Lewis X Antigen/metabolism , Homosexuality, Male , Squamous Intraepithelial Lesions/pathology , Anal Canal/pathology , Killer Cells, Natural/immunology , Killer Cells, Natural/metabolism , Antigens, CD/metabolism , Neutrophils/immunology , Neutrophils/pathology , Neutrophils/metabolism , Biopsy , Immunohistochemistry , Integrin alpha Chains/metabolismABSTRACT
Rectal MRI provides a detailed depiction of pelvic anatomy; specifically, the relationship of the tumor to key anatomic structures, including the mesorectal fascia, anterior peritoneal reflection, and sphincter complex. However, anatomic inconsistencies, pitfalls, and confusion exist, which can have a strong impact on interpretation and treatment. These areas of confusion include the definition of the rectum itself, specifically differentiation of the rectum from the anal canal and the sigmoid colon, and delineation of the high versus low rectum. Other areas of confusion include the relative locations of the mesorectal fascia and peritoneum and their significance in staging and treatment, the difference between the mesorectal fascia and circumferential resection margin, involvement of the sphincter complex, and evaluation of lateral pelvic lymph nodes. The impact of these anatomic inconsistencies and sources of confusion is significant, given the importance of MRI in depicting the anatomic relationship of the tumor to critical pelvic structures, to triage surgical resection and neoadjuvant chemoradiotherapy with the goal of minimizing local recurrence. Evolving treatment paradigms also place MRI central in management of rectal cancer. ©RSNA, 2024.
Subject(s)
Magnetic Resonance Imaging , Neoplasm Staging , Rectal Neoplasms , Humans , Anal Canal/diagnostic imaging , Anal Canal/pathology , Anal Canal/anatomy & histology , Magnetic Resonance Imaging/methods , Rectal Neoplasms/diagnostic imaging , Rectal Neoplasms/pathology , Rectal Neoplasms/therapy , Rectum/diagnostic imaging , Rectum/pathologyABSTRACT
PURPOSE: Solitary fibrous tumors (SFT) are a rare entity of in majority benign neoplasms. Nevertheless, up to 20% of cases show a malignant tendency with local infiltration or metastasis. Commonly arising in the thoracic cavity, only few cases of SFT of the mesorectal tissue have been reported in the literature. Complete surgical resection, classically by posterior approach, is the treatment of choice. The purpose of this review is to demonstrate the safety and suitability of transanal minimally invasive surgery (TAMIS) as a surgical approach for the resection of benign pararectal solid tumors. METHODS: We report the case of a 52-year-old man who was diagnosed incidentally with SFT of the distal mesorectum. Resection by TAMIS was performed. Based on this case, we describe the steps and potential benefits of this procedure and provide a comprehensive review of the literature. RESULTS: Histopathology confirms the completely resected SFT. After uneventful postoperative course and discharge on day four, follow-up was recommended by a multidisciplinary board by clinical examination and MRI, which showed a well-healed scar and no recurrence up to 3 years after resection. CONCLUSION: SFT of the mesorectum is a very rare entity. To our knowledge, this is the first report on a TAMIS resection for SFT, demonstrated as a safe approach for complete resection of benign pararectal solid tumors.
Subject(s)
Solitary Fibrous Tumors , Humans , Male , Middle Aged , Solitary Fibrous Tumors/surgery , Solitary Fibrous Tumors/pathology , Solitary Fibrous Tumors/diagnostic imaging , Rectal Neoplasms/surgery , Rectal Neoplasms/pathology , Rectal Neoplasms/diagnostic imaging , Minimally Invasive Surgical Procedures/methods , Anal Canal/surgery , Anal Canal/pathology , Transanal Endoscopic Surgery/methods , Magnetic Resonance ImagingABSTRACT
INTRODUCTION: Men who have sex with men (MSM), especially those living with HIV, are at an increased risk of anal cancer. The prevalence and incidence of its precursor, anal high-grade squamous intraepithelial lesions (HSILs), among MSM who started antiretroviral therapy during acute HIV acquisition are yet to be explored. METHODS: Participants in an acute HIV acquisition cohort in Bangkok, Thailand, who agreed to take part in this study, were enrolled. All participants were diagnosed and started antiretroviral therapy during acute HIV acquisition. Human papillomavirus (HPV) genotyping and high-resolution anoscopy, followed by anal biopsy as indicated, were done at baseline and 6-monthly visits. RESULTS: A total of 89 MSM and four transgender women were included in the analyses. Median age at enrolment was 26 years. Baseline prevalence of histologic anal HSIL was 11.8%. With a total of 147.0 person-years of follow-up, the incidence of initial histologic anal HSIL was 19.7 per 100 person-years. Factors associated with incident anal HSIL were anal HPV 16 (adjusted hazards ratio [aHR] 4.33, 95% CI 1.03-18.18), anal HPV 18/45 (aHR 6.82, 95% CI 1.57-29.51), other anal high-risk HPV (aHR 4.23, 95% CI 1.27-14.14), syphilis infection (aHR 4.67, 95% CI 1.10-19.90) and CD4 count <350 cells/mm3 (aHR 3.09, 95% CI 1.28-7.48). CONCLUSIONS: With antiretroviral therapy initiation during acute HIV acquisition, we found the prevalence of anal HSIL among cisgender men and transgender women who have sex with men to be similar to those without HIV. Subsequent anal HSIL incidence, although lower than that of those with chronic HIV acquisition, was still higher than that of those without HIV. Screening for and management of anal HSIL should be a crucial part of long-term HIV care for all MSM.
Subject(s)
HIV Infections , Homosexuality, Male , Squamous Intraepithelial Lesions , Transgender Persons , Humans , Thailand/epidemiology , Male , Adult , HIV Infections/drug therapy , HIV Infections/epidemiology , HIV Infections/complications , Prevalence , Transgender Persons/statistics & numerical data , Incidence , Female , Homosexuality, Male/statistics & numerical data , Squamous Intraepithelial Lesions/epidemiology , Squamous Intraepithelial Lesions/pathology , Young Adult , Anus Neoplasms/epidemiology , Papillomaviridae/isolation & purification , Papillomaviridae/genetics , Papillomavirus Infections/epidemiology , Cohort Studies , Biopsy , Genotype , Anal Canal/pathology , Anal Canal/virologyABSTRACT
INTRODUCTION: Visualising the course of a complex perianal fistula on imaging can be difficult. It has been postulated that three-dimensional (3D) models of perianal fistulas improve understanding of the perianal pathology, contribute to surgical decision-making and might even improve future outcomes of surgical treatment. The aim of the current study is to investigate the accuracy of 3D-printed models of perianal fistulas compared with magnetic resonance imaging (MRI). METHODS: MRI scans of 15 patients with transsphincteric and intersphincteric fistulas were selected and then assessed by an experienced abdominal and colorectal radiologist. A standardised method of creating a 3D-printed anatomical model of cryptoglandular perianal fistula was developed by a technical medical physicist and a surgeon in training with special interest in 3D printing. Manual segmentation of the fistula and external sphincter was performed by a trained technical medical physicist. The anatomical models were 3D printed in a 1:1 ratio and assessed by two colorectal surgeons. The 3D-printed models were then scanned with a 3D scanner. Volume of the 3D-printed model was compared with manual segmentation. Inter-rater reliability statistics were calculated for consistency between the radiologist who assessed the MRI scans and the surgeons who assessed the 3D-printed models. The assessment of the MRI was considered the 'gold standard'. Agreement between the two surgeons who assessed the 3D printed models was also determined. RESULTS: Consistency between the radiologist and the surgeons was almost perfect for classification (κ = 0.87, κ = 0.87), substantial for complexity (κ = 0.73, κ = 0.74) and location of the internal orifice (κ = 0.73, κ = 0.73) and moderate for the percentage of involved external anal sphincter in transsphincteric fistulas (ICC 0.63, ICC 0.52). Agreement between the two surgeons was substantial for classification (κ = 0.73), complexity (κ = 0.74), location of the internal orifice (κ = 0.75) and percentage of involved external anal sphincter in transsphincteric fistulas (ICC 0.77). CONCLUSIONS: Our 3D-printed anatomical models of perianal fistulas are an accurate reflection of the MRI. Further research is needed to determine the added value of 3D-printed anatomical models in preoperative planning and education.
Subject(s)
Anal Canal , Magnetic Resonance Imaging , Models, Anatomic , Printing, Three-Dimensional , Rectal Fistula , Humans , Rectal Fistula/diagnostic imaging , Rectal Fistula/surgery , Magnetic Resonance Imaging/methods , Reproducibility of Results , Anal Canal/diagnostic imaging , Anal Canal/surgery , Anal Canal/pathology , Female , Male , Adult , Imaging, Three-Dimensional/methods , Middle AgedABSTRACT
Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS.
Subject(s)
Abnormalities, Multiple , Anorectal Malformations , DNA-Binding Proteins , Face , Hand Deformities, Congenital , Intellectual Disability , Micrognathism , Neck , Transcription Factors , Humans , Female , Micrognathism/genetics , Micrognathism/pathology , Child, Preschool , Intellectual Disability/genetics , Intellectual Disability/pathology , Transcription Factors/genetics , Neck/abnormalities , Neck/pathology , Hand Deformities, Congenital/genetics , Hand Deformities, Congenital/pathology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , DNA-Binding Proteins/genetics , Anorectal Malformations/genetics , Face/abnormalities , Face/pathology , DNA Helicases/genetics , Nuclear Proteins/genetics , Anal Canal/abnormalities , Anal Canal/pathology , PhenotypeABSTRACT
BACKGROUND: People with HIV at highest risk of anal cancer include gay, bisexual, and other men who have sex with men and transgender women aged 35 years or older as well as other people with HIV aged 45 years or older. Identifying and treating precancerous lesions can reduce anal cancer incidence in these groups. We assessed the prevalence of anal cytology and access to high-resolution anoscopy among people with HIV overall and in those individuals at highest risk. METHODS: Data were obtained from the Centers for Disease Control and Prevention's Medical Monitoring Project, a population-based survey of people with HIV aged 18 years and older, and a supplemental Medical Monitoring Project facility survey. We report weighted percentages of people with HIV receiving anal cytology during the past 12 months, access to high-resolution anoscopy, and characteristics of HIV care facilities by availability of high-resolution anoscopy. RESULTS: Overall, 4.8% (95% confidence interval [CI]â= 3.4% to 6.1%) of people with HIV had undergone anal cytology in the prior 12 months. Only 7.7% (95% CIâ= 5.1% to 10.6%) of gay, bisexual, and other men who have sex with men as well as transgender women 35 years of age or older and 1.9% (95% CIâ=â0.9% to 2.9%) of all other people with HIV aged 45 years and older had anal cytology. Prevalence was statistically significantly low among people with HIV with the following characteristics: non-Hispanic or Latino, Black or African American, high school education or less, heterosexual orientation, and living in southern Medical Monitoring Project states. Among people with HIV, 32.8% (95% CIâ= 28.0% to 37.7%) had no access to high-resolution anoscopy on-site or through referral at their care facility; 22.2% (95% CIâ= 19.5% to 24.9%) had on-site access; 45.0% (95% CIâ= 41.5% to 48.5%) had high-resolution anoscopy available through referral. Most facilities that received Ryan White HIV/AIDS Program funding, cared for more than 1000 people with HIV, or provided on-site colposcopy also provided high-resolution anoscopy on-site or through referral. CONCLUSIONS: Rates of anal cytology and access to high-resolution anoscopy were low among people with HIV, including those individuals at highest risk of anal cancer. Our data may inform large-scale implementation of anal cancer prevention efforts.
Subject(s)
Anus Neoplasms , HIV Infections , Humans , Male , Female , HIV Infections/epidemiology , HIV Infections/complications , Anus Neoplasms/epidemiology , Anus Neoplasms/pathology , Anus Neoplasms/diagnosis , Anus Neoplasms/virology , Middle Aged , Adult , Prevalence , United States/epidemiology , Early Detection of Cancer/methods , Anal Canal/pathology , Anal Canal/virology , Health Services Accessibility , Young Adult , Aged , Adolescent , Cytodiagnosis/methods , Transgender Persons/statistics & numerical data , Proctoscopy , Sexual and Gender Minorities/statistics & numerical data , Mass Screening/methods , CytologyABSTRACT
ABSTRACT: Pyoderma gangrenosum is an inflammatory skin disease that presents with rapidly progressive ulcers with violaceous, undermined borders. Despite most commonly affecting the lower extremities, pyoderma gangrenosum can rarely present in the genital, anal, and perineal regions. We describe 2 cases and report a review of published cases.
Subject(s)
Perineum , Pyoderma Gangrenosum , Humans , Pyoderma Gangrenosum/drug therapy , Pyoderma Gangrenosum/diagnosis , Pyoderma Gangrenosum/pathology , Perineum/pathology , Male , Female , Adult , Anus Diseases/pathology , Middle Aged , Anal Canal/pathology , Treatment OutcomeABSTRACT
Demand for anal cancer screening is expected to rise following the recent publication of the Anal Cancer-HSIL Outcomes Research trial, which showed that treatment of high-grade squamous intraepithelial lesions significantly reduces the rate of progression to anal cancer. While screening for human papillomavirus-associated squamous lesions in the cervix is well established and effective, this is less true for other sites in the lower anogenital tract. Current anal cancer screening and prevention rely on high-resolution anoscopy with biopsies. This procedure has a steep learning curve for providers and may cause patient discomfort. Scattering-based light-sheet microscopy (sLSM) is a novel imaging modality with the potential to mitigate these challenges through real-time, microscopic visualization of disease-susceptible tissue. Here, we report a proof-of-principle study that establishes feasibility of dysplasia detection using an sLSM device. We imaged 110 anal biopsy specimens collected prospectively at our institution's dysplasia clinic (including 30 nondysplastic, 40 low-grade squamous intraepithelial lesion, and 40 high-grade squamous intraepithelial lesion specimens) and found that these optical images are highly interpretable and accurately recapitulate histopathologic features traditionally used for the diagnosis of human papillomavirus-associated squamous dysplasia. A reader study to assess diagnostic accuracy suggests that sLSM images are noninferior to hematoxylin and eosin images for the detection of anal dysplasia (sLSM accuracy = 0.87; hematoxylin and eosin accuracy = 0.80; P = .066). Given these results, we believe that sLSM technology holds great potential to enhance the efficacy of anal cancer screening by allowing accurate sampling of diagnostic tissue at the time of anoscopy. While the current imaging study was performed on ex vivo biopsy specimens, we are currently developing a handheld device for in vivo imaging that will provide immediate microscopic guidance to high-resolution anoscopy providers.
Subject(s)
Anus Neoplasms , Papillomavirus Infections , Proof of Concept Study , Female , Humans , Male , Middle Aged , Anal Canal/virology , Anal Canal/pathology , Anal Canal/diagnostic imaging , Anus Neoplasms/virology , Anus Neoplasms/pathology , Anus Neoplasms/diagnostic imaging , Biopsy , Human Papillomavirus Viruses , Microscopy/methods , Papillomavirus Infections/complications , Papillomavirus Infections/pathology , Squamous Intraepithelial Lesions/virology , Squamous Intraepithelial Lesions/pathologyABSTRACT
Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.
Subject(s)
Anal Canal , Esophagus , Heart Defects, Congenital , Kidney , Limb Deformities, Congenital , Spine , Trachea , Humans , Male , Female , Anal Canal/abnormalities , Anal Canal/pathology , Limb Deformities, Congenital/pathology , Limb Deformities, Congenital/genetics , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/epidemiology , Esophagus/abnormalities , Esophagus/pathology , Spine/abnormalities , Spine/pathology , Trachea/abnormalities , Trachea/pathology , Adolescent , Heart Defects, Congenital/pathology , Heart Defects, Congenital/epidemiology , Heart Defects, Congenital/genetics , Heart Defects, Congenital/diagnosis , Kidney/abnormalities , Kidney/pathology , Adult , Retrospective Studies , Child , Young Adult , Child, Preschool , Urogenital Abnormalities/epidemiology , Urogenital Abnormalities/genetics , Urogenital Abnormalities/diagnosis , Urogenital Abnormalities/pathology , Infant , Anorectal Malformations/epidemiology , Anorectal Malformations/genetics , Anorectal Malformations/diagnosis , Anorectal Malformations/pathology , Genitalia/abnormalities , Genitalia/pathologyABSTRACT
INTRODUCTION: Dual immunostaining for p16/Ki67 is FDA-approved for use on liquid-based cervical cytology specimens; however, the utility of dual staining in anal cytology especially for ASCUS risk stratification is not well established. METHODS: We investigated dual staining performance on anal cytology specimens and correlated with subsequent cytologic interpretation, high-risk HPV status, and anal biopsy results. Dual staining for p16/Ki-67 was performed on all liquid-based anal cytology specimens from December 2021 to June 2022 (n = 43). RESULTS: Three patients had high grade squamous intraepithelial lesion (HSIL/AIN2-3) on biopsy; dual staining was positive in all three cases. All HR-HPV negative cases were negative for dual staining. Among the 12 ASCUS samples with subsequent anal biopsy results all also had HR-HPV testing. Due to small sample size of cases with squamous intraepithelial lesion (SIL) diagnosed on biopsy, the sensitivity and positive predictive value was not calculated. However, the specificity and negative predictive value of p16/Ki-67 dual staining for SIL of any grade on biopsy were 1 (95% CI: 0.66-1) and 0.9 (95% CI: 0.65-0.97) respectively, whereas the specificity and negative predictive value of HR-HPV testing for SIL of any grade on biopsy were 0.44 (95% CI: 0.14-0.79) and 0.8 (95% CI: 0.41-0.96) respectively. CONCLUSION: Dual p16/Ki-67 staining indicates transforming HPV infection and could help serve as an ancillary test for risk stratification for atypical anal cytology specimens. Among ASCUS samples, dual staining was specific for SIL of any grade with a high negative predictive value and therefore could be useful in clinical practices with limited availability for follow-up care.
Subject(s)
Cyclin-Dependent Kinase Inhibitor p16 , Ki-67 Antigen , Humans , Anal Canal/pathology , Anal Canal/virology , Anus Neoplasms/pathology , Anus Neoplasms/diagnosis , Anus Neoplasms/virology , Biomarkers, Tumor/isolation & purification , Biomarkers, Tumor/metabolism , Cyclin-Dependent Kinase Inhibitor p16/isolation & purification , Cyclin-Dependent Kinase Inhibitor p16/metabolism , Cytodiagnosis/methods , Immunohistochemistry/methods , Ki-67 Antigen/isolation & purification , Ki-67 Antigen/metabolism , Papillomavirus Infections/pathology , Papillomavirus Infections/diagnosis , Papillomavirus Infections/virology , Sensitivity and Specificity , Squamous Intraepithelial Lesions/pathology , Squamous Intraepithelial Lesions/virology , Squamous Intraepithelial Lesions/diagnosisABSTRACT
BACKGROUND/AIM: The current standard for anal cancer treatment is essentially a 'one size fits all' approach where the dose of radiotherapy is similar whether the tumor is very small or very large. Trials are ongoing to evaluate dose de-escalation or escalation in localized disease depending on tumor size. The aim of the study was to assess results of a personalized approach involving dose stratification by stage and boost dose adjusted according to tumor early response. PATIENTS AND METHODS: We retrospectively reviewed squamous cell anal cancer (SCAC) patients treated between 2011 and 2021 by long-course intensity-modulated radiotherapy (IMRT) and concomitant chemotherapy (CT); a sequential boost could be administered by IMRT or interventional radiotherapy (IRT) to obtain a total equivalent dose in 2 Gy (EQD2) of 54-60 Gy. RESULTS: We analyzed 110 patients (61% T3-4 stage, 71% node-positive). A total of 68.2% of patients received a sequential boost, mainly by IRT; median total EQD2 to primary site was 59.3 Gy. Acute ≥G3 toxicity rate was 36.4%. Median follow-up (FUP) was 35.4 months. A total of 83% of patients achieved clinical complete response (cCR); locoregional recurrence (LRR) occurred in 20.9% and distant metastases in 6.4% of cases. A total of 12.7% patients underwent salvage surgery. A total of 25.5% of patients reported ≥G2 and 4.5% ≥G3 late toxicity. The estimated 3-year overall survival, disease-free survival and colostomy-free survival were 92%, 72% and 84% respectively; 3-year-LRR was 22%. Nodal stage was associated with poorer cCR probability and higher LRR (p<0.05). CONCLUSION: Our results on a large cohort of patients with locally advanced SCAC and long FUP time confirmed the efficacy of IMRT; high local control and manageable toxicity also suggest IRT as a promising method in treatment personalization.
Subject(s)
Anus Neoplasms , Radiotherapy Dosage , Radiotherapy, Intensity-Modulated , Humans , Male , Female , Middle Aged , Anus Neoplasms/radiotherapy , Anus Neoplasms/pathology , Anus Neoplasms/mortality , Aged , Radiotherapy, Intensity-Modulated/methods , Radiotherapy, Intensity-Modulated/adverse effects , Adult , Treatment Outcome , Aged, 80 and over , Neoplasm Staging , Retrospective Studies , Anal Canal/pathology , Carcinoma, Squamous Cell/radiotherapy , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/mortalityABSTRACT
BACKGROUND: Anal cytology represents a tool for anal cancer screening in high-risk populations. In addition to accuracy, the reproducibility of the interpretation is of key importance. The authors evaluated the agreement of anal cytologic interpretation between two cytopathologists. METHODS: Liquid-based cytologic slides from human immunodeficiency virus (HIV)-negative men who have sex with men (MSM) were evaluated by two readers with at least 10 years of expertise in cervical cytology. Cases with a discordant interpretation were reviewed, and a consensus was reached. Human papillomavirus (HPV) genotyping was performed using a proprietary HPV genotyping test. Unweighted and weighted Cohen kappa and 95% confidence interval (CI) values were calculated. RESULTS: Overall, 713 slides that were adequate for interpretation were evaluated (MSM: median age, 33 years). An HPV test was performed on 620 samples (87.0%). Considering a dichotomous interpretation (negative for intraepithelial lesion or malignancy vs. atypical squamous cells of undetermined significance or worse), the crude agreement between the two readers was 93.3% (kappa = 0.82; 95% CI, 0.77-0.87). Once a consensus for discordant cases was reached, the best agreement was found for the negative for intraepithelial lesion or malignancy category (511 of 528 samples; 96.8%), whereas the atypical squamous cells of undetermined significance category showed the lowest agreement (90 of 117 samples, 76.9%). Considering the individual cytologic categories, overall agreement was 92.1% (kappa = 0.85; 95% CI, 0.81-0.89). The discordant interpretations were not associated with high-risk HPV infection, HPV16 infection, or MSM age. CONCLUSIONS: The results indicating excellent interobserver agreement in this study substantiate the use of anal cytology in the setting of human immunodeficiency virus-negative MSM.