-
Indian Journal of Pathology &... Apr 2024
Topics: Humans; Anal Canal; Anus Neoplasms; Histocytochemistry; Immunohistochemistry; Microscopy; Neurilemmoma
PubMed: 38391323
DOI: 10.4103/ijpm.ijpm_596_22 -
Human Vaccines & Immunotherapeutics Dec 2024In 2020, there were approximately 50,865 anal cancer cases and 36,068 penile cancer cases worldwide. HPV is considered the main causal agent for the development of anal... (Observational Study)
Observational Study
In 2020, there were approximately 50,865 anal cancer cases and 36,068 penile cancer cases worldwide. HPV is considered the main causal agent for the development of anal cancer and one of the causal agents responsible for the development of penile cancer. The aim of this epidemiological, descriptive, retrospective study was to describe the burden of hospitalization associated with anal neoplasms in men and women and with penis neoplasms in men in Spain from 2016 to 2020. The National Hospital Data Surveillance System of the Ministry of Health, Conjunto Mínimo Básico de Datos, provided the discharge information used in this observational retrospective analysis. A total of 3,542 hospitalizations due to anal cancer and 4,270 hospitalizations due to penile cancer were found; For anal cancer, 57.4% of the hospitalizations occurred in men, and these hospitalizations were also associated with significantly younger mean age, longer hospital stays and greater costs than those in women. HIV was diagnosed in 11.19% of the patients with anal cancer and 1.74% of the patients with penile cancer. The hospitalization rate was 2.07 for men and 1.45 for women per 100,000 in anal cancer and of 4.38 per 100,000 men in penile cancer. The mortality rate was 0.21 for men and 0.12 for women per 100,000 in anal cancer and 0.31 per 100.000 men in penile cancer and the case-fatality rate was 10.07% in men and 8,26% in women for anal cancer and 7.04% in penile cancer. HIV diagnosis significantly increased the cost of hospitalization. For all the studied diagnoses, the median length of hospital stays and hospitalization cost increased with age. Our study offers relevant data on the burden of hospitalization for anal and penile cancer in Spain. This information can be useful for future assessment on the impact of preventive measures, such as screening or vaccination in Spain.
Topics: Male; Humans; Female; Penile Neoplasms; Retrospective Studies; Anal Canal; Spain; Hospitalization; Anus Neoplasms; HIV Infections; Papillomavirus Infections
PubMed: 38557433
DOI: 10.1080/21645515.2024.2334001 -
Surgical Case Reports Aug 2023As the number of patients with inflammatory bowel disease (IBD) increases, the incidence of IBD-related colorectal cancer (CRC) is also on the rise. Crohn's disease...
BACKGROUND
As the number of patients with inflammatory bowel disease (IBD) increases, the incidence of IBD-related colorectal cancer (CRC) is also on the rise. Crohn's disease (CD)-related CRC has been reported to have a poorer prognosis than sporadic CRC, and the early detection of CD-related CRC is difficult. Japanese patients with CD are reported to have a higher frequency of anorectal cancer than the Western population; however, methods for early diagnosis have not yet been established because of perianal pain during the examination.
CASE PRESENTATION
We report a case of CD-related anal fistula cancer that was detected early by surveillance examination under anesthesia (EUA). The patient was a 37-year-old man, diagnosed with CD at the age of 15 years and started medical treatment. However, due to poor disease control, the intestinal tract remained highly inflamed and the patient continued to have over 10 bowel movements per day. He was referred to our hospital for surgical treatment after a colonoscopy (CS), which revealed multiple active ulcers and stenoses. Since three perianal seton drainage tubes had been placed around his anus since the age of 33 years, we decided to perform an EUA to rule out cancer coexistence in the anorectal region. After a random biopsy of the rectum by CS under general anesthesia, we resected and curetted multiple perianal fistulas as much as possible and reinserted the seton drainage tubes. Pathological examination of the fistula tract revealed adenocarcinoma in one tract, indicating the coexistence of anal fistula cancer. Based on the diagnosis of multiple intestinal stenoses and anal fistula cancer due to CD, we performed hand-assisted laparoscopic total colectomy, rectal amputation, extensive perineal resection, and reconstruction using a left rectus abdominis flap.
CONCLUSION
In a long-term CD patient with anorectal lesions, we performed an EUA to diagnose the coexistence of anal fistula cancer at an early stage, and surgical resection was achieved. EUA is effective for the early detection and treatment of CD-related CRC and may contribute to an improved prognosis.
PubMed: 37610526
DOI: 10.1186/s40792-023-01722-8 -
Techniques in Coloproctology Oct 2023Approximately 15-50% of patients with an anorectal abscess will develop an anal fistula, but the true incidence of this entity is currently unknown. The aim of the study... (Observational Study)
Observational Study
PURPOSE
Approximately 15-50% of patients with an anorectal abscess will develop an anal fistula, but the true incidence of this entity is currently unknown. The aim of the study was to determine the incidence of anorectal abscess and development of a fistula in a specific population area and to identify potential risk factors associated with demographic, socioeconomic and pre-existing disease (e.g. diabetes and inflammatory bowel disease).
METHODS
A longitudinal observational study was designed including a large cohort study in an area with 7,553,650 inhabitants in Spain 1st january 2014 to 31st december 2019. Adults who attended for the first time with an anorectal abscess and had a minimum of 1-year follow-up were included. The diagnosis was made using ICD-10 codes for anorectal abscess and anal fistula.
RESULTS
During the study period, we included 27,821 patients with anorectal abscess. There was a predominance of men (70%) and an overall incidence of 596 per million population. The overall incidence of anal fistula developing from abscesses was 20%, with predominance in men, and a lower incidence in the lowest income level. The cumulative incidence of fistula was higher in men and in younger patients (p < 0.0001). On multivariate analysis, patients aged 60-69 years (hazard ratio 2.0) and those with inflammatory bowel disease (hazard ratio 1.8-2.0) had a strong association with fistula development (hazard ratio 2.0).
CONCLUSIONS
One in five patients with an anorectal abscess will develop a fistula, with a higher likelihood in men. Fistula formation was strongly associated with inflammatory bowel disease.
Topics: Adult; Male; Humans; Female; Abscess; Cohort Studies; Follow-Up Studies; Anus Diseases; Rectal Fistula; Inflammatory Bowel Diseases
PubMed: 37548781
DOI: 10.1007/s10151-023-02840-z -
Current Oncology (Toronto, Ont.) Sep 2023Since EXTRA, a non-randomized phase II trial with 31 patients, explored the use of capecitabine, mitomycin and radiation therapy (RT) in the treatment of localized...
Since EXTRA, a non-randomized phase II trial with 31 patients, explored the use of capecitabine, mitomycin and radiation therapy (RT) in the treatment of localized squamous cell carcinoma of the anal canal (SCCAC), this treatment has been considered as an acceptable alternative to infusional 5-FU. However, the differences in efficacy between capecitabine and 5-FU in chemoradiation therapy (CRT) with simultaneous integrated boost (SIB) radiation therapy (SIB-IMRT) for local SCCAC are not well documented. Patients included in this prospective monocentric cohort study were treated with SIB-RapidArc (a unique RT method treatment for all patients: identical technique, volume and constraints for at-risk organs), mitomycin C and 5-FU each day of RT for 7 weeks (group 1) or capecitabine each day of RT (group 2). Patients treated between July 2009 and August 2017 (group 1) and between November 2012 and April 2018 (group 2) for local SCCAC T2-4 classified as N, M0 or T, N1-3, M0 were included. Primary endpoints were progression-free survival (PFS) and acute toxicities. Results: One hundred forty-seven patients were included, 91 in group 1 and 56 in group 2. The two groups were statistically comparable in terms of sex, Eastern Cooperative Oncology Group Performance Status (ECOG PS) and TNM. With a median duration of follow-up of 53.5 months, the PFS rate at 3 years was 80% for group 1 and 75% for group 2 ( = 0.32). The 3-year colostomy-free survival rate was 92% for group 1 and 85% for group 2 ( = 0.11). The rate of patients with at least one grade 3 or higher acute toxicity was 35.5% in group 1 and 21.4% in group 2 ( = 0.10), with a trend of fewer acute toxicities with capecitabine. Conclusion: Capecitabine/mitomycin in combination with SIB RapidArc radiation therapy for anal cancer seems as effective as 5-FU-based chemotherapy and is well tolerated with minimal toxicity.
Topics: Humans; Mitomycin; Capecitabine; Fluorouracil; Radiotherapy, Intensity-Modulated; Cohort Studies; Prospective Studies; Anus Neoplasms
PubMed: 37754536
DOI: 10.3390/curroncol30090621 -
Colorectal Disease : the Official... Jul 2023Squamous cell carcinomas of the anus are normally treated with synchronous chemoradiotherapy (CRT). Small, localized anal margin tumours may be adequately treated by...
AIM
Squamous cell carcinomas of the anus are normally treated with synchronous chemoradiotherapy (CRT). Small, localized anal margin tumours may be adequately treated by local excision (LE) alone. This study aims to investigate the outcomes of patients with anal margin tumours treated with LE alone, reserving the use of CRT for salvage on local recurrence (LR).
METHODS
Patients with small, localized (stage I/IIA) anal margin tumours treated by LE from October 1999 to September 2018 were identified. The effect of tumour size and resection margin on LR risk was analysed. Outcomes of overall survival and disease-free survival were measured.
RESULTS
Fifty-five patients with anal margin tumours were identified. Overall 5-year LR, overall survival and disease-free survival rates were 8%, 86% and 82% respectively. Of the seven LRs, five were successfully salvaged with CRT with no further recurrence and two were not fit for CRT. Resection margins in non-fragmented tumours and tumour size did not significantly influence LR risk.
CONCLUSIONS
Most small, localized anal margin tumours can be adequately treated by LE alone with low LR rates. Most patients who developed LR were salvaged using CRT, with no cancer-related deaths reported.
Topics: Humans; Neoplasm Staging; Anus Neoplasms; Chemoradiotherapy; Disease-Free Survival; Carcinoma, Squamous Cell; Neoplasm Recurrence, Local; Retrospective Studies
PubMed: 37029622
DOI: 10.1111/codi.16562 -
Journal of Medical Genetics Apr 2024Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and...
BACKGROUND
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and recognition of TBS can be challenging and there has been a lack of investigation of patients with atypical TBS in large cohorts and delineation of their phenotypic characteristics.
METHODS
We screened and variants using next-generation sequencing in the China Deafness Genetics Consortium (CDGC) cohort enrolling 20 666 unrelated hearing loss (HL) cases. Comprehensive clinical evaluations were conducted on seven members from a three-generation TBS family. Combining data from previously reported cases, we also provided a landscape of phenotypes and genotypes of patients with TBS.
RESULTS
We identified five novel and two reported pathogenic/likely pathogenic (P/LP) variants from seven families. Audiological features in patients differed in severity and binaural asymmetry. Moreover, previously undocumented malformations in the middle and inner ear were detected in one patient. By comprehensive clinical evaluations, we further provide evidence for the causal relationship between variation and certain endocrine abnormalities. Penetrance analysis within familial contexts revealed incomplete penetrance among first-generation patients with TBS and a higher disease burden among their affected offspring.
CONCLUSION
This study presents the first insight of genetic screening for patients with TBS in a large HL cohort. We broadened the phenotypic-genotypic spectrum of TBS and our results supported an underestimated prevalence of TBS. Due to the rarity and phenotypic heterogeneity of rare diseases, broader spectrum molecular tests, especially whole genome sequencing, can improve the situation of underdiagnosis and provide effective recommendations for clinical management.
Topics: Humans; Mutation; Transcription Factors; Syndrome; Hearing Loss, Sensorineural; Phenotype; Nuclear Proteins; Adaptor Proteins, Signal Transducing; Abnormalities, Multiple; Anus, Imperforate; Thumb
PubMed: 38296632
DOI: 10.1136/jmg-2023-109579 -
Bilateral Transposition Flap for Postoperative Anal Stenosis after Reconstruction for Paget Disease.Plastic and Reconstructive Surgery.... Aug 2023One of the complications of anal surgery or disease is anal stenosis. To release the tension of the anus, a tension-releasing incision in the perianal skin and various...
One of the complications of anal surgery or disease is anal stenosis. To release the tension of the anus, a tension-releasing incision in the perianal skin and various anoplasty procedures are usually considered. The aim of this article is to describe a straightforward technique with local flaps for severe anal stenosis after anal reconstruction. A 57-year-old man presented to the clinic with diverticulitis secondary to severe anal stenosis, and reported difficulty with defecation after perianal skin resection around the anus and surgery to create a V-Y advancement flap for perianal primary Paget disease 9 months previously. After improvement of the diverticulitis using antibiotics, bilateral transposition flaps were transferred to release the anal stenosis. The surgical treatment for severe anal stenosis has been known to entail several complications, including infection, incontinence, anal mucosal ectropion, pruritus, wound dehiscence, and restenosis. In this severe case, because the scars were situated at the 6 o'clock and 12 o'clock positions on the anus due to the previous V-Y advancement flap, bilateral rotation flaps were transferred from the 3 o'clock and 9 o'clock positions of the anus to prevent wound dehiscence and partial flap necrosis. Three months later, the size of the anus was unchanged, but additional surgery was performed at the patient's request. A bilateral transposition flap procedure was used, with flaps designed and elevated from the 6 o'clock and 12 o'clock positions. The postoperative course was uneventful, and the anal stenosis was improved.
PubMed: 37547347
DOI: 10.1097/GOX.0000000000005142 -
Cureus Sep 2023Anterior displacement of the anus (ADA) is recognized as a common congenital abnormality of the anorectal region and is often associated with constipation. It is...
INTRODUCTION
Anterior displacement of the anus (ADA) is recognized as a common congenital abnormality of the anorectal region and is often associated with constipation. It is diagnosed through a physical examination by measuring the Anal Position Index (API) at birth.
METHODS
A cross-sectional study was conducted utilizing non-probability consecutive sampling of all patients presenting with ADA at our institute over a six-month period. The study focused on key variables, including the measurement of scroto-anal and scroto-coccygeal distances in boys and fourchette-anal and fourchette-coccygeal distances in girls. Data collection was carried out using a structured proforma, ensuring prospective data collection from neonates meeting the selection criteria (neonates born at our center and identified by the neonatology team as having a normal anal opening, regardless of their gestational period or birthweight).
RESULTS
Our study comprised a cohort of 204 neonates. The Anal Position Index was determined to be 0.36 ± 0.07 for male newborns and 0.24 ± 0.06 for female newborns. Notably, a statistically significant correlation was observed between the API and factors such as gestational age, birth weight, and advancing paternal age.
CONCLUSION
The assessment of the API proves highly valuable in identifying indicators of ADA in neonates, facilitating early disease detection, and guiding the prompt management of subsequent functional symptoms, such as constipation, during later stages of life.
PubMed: 37842457
DOI: 10.7759/cureus.45144 -
Frontiers in Surgery 2023It was aimed at assessing the benefits of adjuvant chemotherapy (ACT) for patients with node-negative colorectal cancer (CRC) either with or without perineural invasion... (Review)
Review
PURPOSE
It was aimed at assessing the benefits of adjuvant chemotherapy (ACT) for patients with node-negative colorectal cancer (CRC) either with or without perineural invasion (PNI).
METHODS
We systematically searched PubMed, Cochrane Library, Embase, and Web of Science from database inception through October 1, 2023. Survival outcomes were analyzed using hazard ratios (HRs) and corresponding 95% confidence intervals (CIs). The methodological quality of included studies was assessed using the Newcastle-Ottawa Scale (NOS). Heterogeneity for the descriptive meta-analyses was quantified using the statistic.
RESULTS
Ten studies included in this review. ACT improved overall survival (OS) (HR 0.52, 95% CI 0.40-0.69) and disease-free survival (DFS) (HR 0.53, 95% CI 0.35-0.82) in PNI + patients but did not affect DFS (HR 1.13, 95% CI 0.72-1.77) in PNI- patients. A disease-specific survival (DSS) benefit with chemotherapy was observed in PNI + (HR 0.76, 95% CI 0.58-0.99) and PNI- patients (HR 0.76, 95% CI 0.57-1.00). And PNI decreased DFS (HR 1.94, 95% CI 1.52-2.47) and OS (HR 1.75, 95% CI 0.96-3.17) in node-negative CRC.
CONCLUSIONS
In conclusion, chemotherapy appears most beneficial for survival outcomes in node-negative patients with PNI, but may also confer some advantage in those without PNI.
SYSTEMATIC REVIEW REGISTRATION
Identifier INPLASY2021120103.
PubMed: 38033531
DOI: 10.3389/fsurg.2023.1308757