OBJECTIVE: London Protocol (LP) and Classification allied to high-resolution manometry (HRM) technological evolution has updated and enhanced the diagnostic armamentarium in anorectal disorders. This study aims to evaluate LP reproducibility under water-perfused HRM, provide normal data and new parameters based on 3D and healthy comparison studies under perfusional HRM.
METHODS: Fifty healthy (25 F) underwent water-perfused 36 channel HRM based on LP at resting, squeeze, cough, push, and rectal sensory. Additional 3D manometric parameters were: pressure-volume (PV) 104mmHg2.cm (resting, short and long squeeze, cough); highest and lowest pressure asymmetry (resting, short squeeze, and cough). Complementary parameters (CP) were: resting (mean pressure, functional anal canal length); short squeeze (mean and maximum absolute squeeze pressure), endurance (fatigue rate, fatigue rate index, capacity to sustain); cough (anorectal gradient pressure); push (rectum-anal gradient pressure, anal canal relaxation percent); recto-anal inhibitory reflex (anal canal relaxation percent).
RESULTS: No difference to genders: resting (LP, CP, and 3D); short squeeze (highest pressure asymmetry); endurance (CP); cough (CP, highest and lowest pressure asymmetry); push (gradient pressure); rectal sensory. Higher pressure in men: short squeeze (maximum incremental, absolute, and mean pressure, PV, lowest pressure asymmetry); long squeeze (PV); cough (anal canal and rectum maximum pressure, anal canal PV); push (anal canal and rectum maximum pressure). Anal canal relaxation was higher in women (push).
CONCLUSIONS: LP reproducibility is feasible under water-perfused HRM, and comparative studies could bring similarity to dataset expansion. Novel 3D parameters need further studies with healthy and larger data to be validated and for disease comparisons.
CONCLUSIONS: • London Protocol and Classification allied with the technological evolution of HRM (software and probes) has refined the diagnostic armamentarium in anorectal disorders. • Novel 3D and deepening the analysis of manometric parameters before the London Classification as a contributory diagnostic tool. • Comparison of healthy volunteers according to the London Protocol under a perfusional high-resolution system could establish equivalence points.

Poorly differentiated neuroendocrine carcinomas (NECs) are rare malignant neoplasms with aggressive behavior. The diagnosis remains challenging due to ever-changing terminologies and morphologic overlaps with other disease entities. Herein, we seek to better define anorectal NECs by high-risk human papillomavirus (HPV) status and molecular profiling. Fourteen cases, including 3 men and 11 women with a median age of 63 years, were included. High-risk HPV RNA in situ hybridization was diffusely positive (+) in 7 cases, focal rarely positive (+/-) in 2 cases, and completely negative (-) in 5 cases. By morphology, all HPV(-) NECs were large-cell type, 3 mixed with a tubular adenoma/dysplasia or invasive adenocarcinoma. HPV-related (+ or +/-) NECs were mostly small-cell type, 3 mixed with squamous dysplasia and/or squamous cell carcinoma. Immunohistochemically, all NECs were positive for at least 2 neuroendocrine markers. The HPV(-) NECs were also positive for CDX2, whereas all HPV-related NECs were negative or only focally positive for CDX2, p40, and p63. Overexpression of p53 was found in 3 HPV(-) and 2 HPV(+/-) NECs but not in any HPV(+) NECs. Molecular analysis revealed MYC gene amplification in 4 cases: 2 HPV(-), 1 HPV(+/-), and 1 HPV(+). This was confirmed by fluorescence in situ hybridization in all but 1 HPV(-) NEC, which showed polysomy 8 but no true MYC amplification. Interestingly, only 2 of the 4 MYC amplification-bearing cases, both p53 normal/wild-type, expressed c-Myc protein by immunohistochemistry. The other 2 cases, both p53 overexpressed, did not show c-Myc expression despite true MYC amplification. Our study demonstrates that anorectal NECs arise in HPV-dependent or -independent pathways, with heterogeneous expression of other lineage markers and different molecular signatures. Expressions of p53 and c-Myc proteins appear to be mutually exclusive regardless of HPV status, likely mediating alternative mechanisms of NEC carcinogenesis.

Malignant melanoma is one of the most common malignant tumors. Although its incidence rate is generally low among the Chinese population, it has grown rapidly in recent years. The incidence of primary malignant melanoma in the digestive tract is very low. The incidence in the esophagus and rectum are more common, while reports in the colon are only reported in <10 cases. Primary signet ring cell carcinoma of the rectum is also a rare and unique tumor. This paper reports a case of rectal malignant melanoma with signet ring cell carcinoma.

Despite surgical correction, children with anorectal malformations may experience long-term bowel dysfunction, including fecal incontinence and/or disorders of evacuation. Anorectal manometry is the most widely used test of anorectal function. Although considerable attention has been devoted to its application in the anorectal malformation cohort, there have been few attempts to consolidate the findings obtained. This systematic review aimed to (1) synthesize and evaluate the existing data regarding anorectal manometry results in children following anorectal malformation repair, and (2) evaluate the manometry protocols utilized, including equipment, assessment approach, and interpretation. We reviewed four databases (Embase, MEDLINE, the Cochrane Library, and PubMed) for relevant articles published between 1 January 1985 and 10 March 2022. Studies reporting post-operative anorectal manometry in children (<18 years) following anorectal malformation repair were evaluated for eligibility. Sixty-three studies were eligible for inclusion. Of the combined total cohort of 2155 patients, anorectal manometry results were reported for 1755 children following repair of anorectal malformations. Reduced resting pressure was consistently identified in children with anorectal malformations, particularly in those with more complex malformation types and/or fecal incontinence. Significant variability was identified in relation to manometry equipment, protocols, and interpretation. Few studies provided adequate cohort medical characteristics to facilitate interpretation of anorectal manometry findings within the context of the broader continence mechanism. This review highlights a widespread lack of standardization in the anorectal manometry procedure used to assess anorectal function in children following anorectal malformation repair. Consequently, interpretation and comparison of findings, both within and between institutions, is exceedingly challenging, if not impossible. Standardized manometry protocols, accompanied by a consistent approach to analysis, including definitions of normality and abnormality, are essential to enhance the comparability and clinical relevance of results.

OBJECTIVE: Malignant melanoma (MM) is rare in India. Indian data on demography and treatment outcome on advanced MM is very limited in the literature.
METHODS: This is a retrospective study of advanced MM treated between January 2013 and December 2020. We evaluated the clinicopathologic features, mutational profiles, survival outcome and prognostic factors in advanced MM patients.
RESULTS: Out of a total 460 patients, 185 (42%) had metastatic disease at presentation and were enrolled in this study with a median age of 63 years (range: 28-93) and male:female ratio of 94:91. The mucosal primary was predominant (n = 110, 59%) than cutaneous primary (38%) and anorectum was the most common site (n = 84, 45%). Tumour mutational analysis was performed in 65 (35%) patients. BRAF mutations were detected in 12 patients and KIT mutations in 7 patients. Thirteen patients didn\'t have any mutations and 22 patients had mutations other than KIT & BRAF. Only 59 (32%) patients took any systemic treatment - immune checkpoint inhibitors (ICIs) in 17, temozolomide in 18 and paclitaxel/carboplatin in 18, tyrosine kinase inhibitors in 6 patients. After a median follow-up of 26 months (95% confidence interval (CI): 11.6-not reached), median progression-free survival (PFS) was 7.1 months (95% CI: 4.4-9.1) and median overall survival was 14.8 months (95% CI: 7.7-18.2 months). The use of ICI emerged as an only significant good prognostic factor (p ≤ 0.001) for PFS, on multivariate analysis.
CONCLUSIONS: Mucosal origin was more common than cutaneous primary with anorectum being the most common site. BRAF mutation was less as compared to published literature. Very few patients received systemic therapy and the use of ICI showed superior PFS.

Hirschsprung disease is commonly encountered by pediatric surgeons. Despite advances in the surgical management, these children may experience symptoms of bowel dysfunction throughout adulthood. Anorectal manometry may be used to assess post-operative anorectal structure and function. This review aimed to consolidate and evaluate the literature pertaining to post-operative findings of anorectal manometry in children with Hirschsprung disease.
(1) Synthesize the available data regarding anorectal motility patterns in children following repair of Hirschsprung disease. (2) Evaluate the reported anorectal manometry protocols.
We performed a systematic review of four databases: Embase, MEDLINE, the Cochrane Library, and PubMed.
This systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Studies reporting results of post-operative anorectal manometry in children with Hirschsprung disease were evaluated for inclusion.
Twenty-three studies satisfied inclusion criteria, with a combined cohort of 939 patients. Post-operative anorectal manometry results were reported for 682 children. The majority of included studies were assessed as \"poor quality.\" Disparate manometry protocols, heterogeneous cohorts, and lack of standardized outcome assessments introduced a risk of outcome reporting bias, limited the comparability of results, and impeded clinical translation of findings.
This systematic review demonstrated the lack of high-quality evidence underlying the current understanding of post-operative anorectal motility in children with HD. There was little consistency in reported manometry outcomes between studies. In future work, emphasis must be placed on the application of standardized manometry protocols, cohort reporting, and patient outcome assessments.

To the best of our knowledge, there have been few reports in the literature about perineal injury without an associated pelvic fracture. In this report, we are going to discuss the mechanism, management, and outcome of two cases of perineal injury associated with car accidents. The two cases, one male and one female, presented with sustained isolated soft tissue injuries to the perineum. Both cases revealed a separated anorectum from the coccyx and sacrum without detectable damage to the lumen or surrounding sphincter. Pelvis fracture was not present in either case nor did the urinary bladder or urethra show signs of injury. A defunctioning (temporary) colostomy medical innervation was done to both and the perineal wound was left to heal. At last, both patients were satisfied with the final outcome.

Functional and motility gastrointestinal disorders are the most common complaints to the pediatric gastroenterologist. Disorders affecting the small intestine carry a significant morbidity and mortality due to the severe limitation of therapeutic interventions available and the complications associated with such interventions. Congenital colorectal disorders are rare but also carry significant morbidity and poor quality of life plus the social stigma associated with its complications. In this review, we summarize the clinical presentation, diagnostic evaluations, and the therapeutic interventions available for the most common and severe gastrointestinal functional and motility disorders of the small bowel, colon, and anorectum.

Primary adenocarcinoma of the anorectum, compared with squamous cell carcinoma, is a rarer and more aggressive malignant neoplasm. Infection with human papillomavirus (HPV) has been identified as a causal agent in a variety of tumors, including those of the cervix, head and neck, and anogenital region, especially squamous cell carcinoma. However, the relationship between HPV and anorectal adenocarcinoma has not been well studied. In this article, we report an HPV-related anorectal adenocarcinoma arising in a tubulovillous adenoma in a 76 years old female who presented initially with lower gastrointestinal bleeding. The carcinoma cells were positive for cytokeratin 7 and p16 by immunohistochemistry. High-risk HPV RNA in situ hybridization was positive. A follow-up examination of the anal area showed perianal plaques. Histologically, the excision of the perianal lesion showed intraepithelial infiltration by sheets and clusters of large atypical neoplastic cells. The neoplastic cells showed the same immunoprofile compared with the anorectal adenocarcinoma with p16 and high-risk HPV positivity. The findings are consistent with extramammary perianal Paget\'s disease secondary to anorectal adenocarcinoma. HPV-related adenocarcinoma in the anorectum is a newly recognized entity and was previously considered clinically indolent. Our case uniquely exhibits adenoma-carcinoma-perianal Paget\'s disease sequence, which has not been reported before. Our findings suggest that evaluation of the patient\'s lower genital tract for any HPV-associated lesions and long-term follow-up are required to monitor the disease progression in this type of malignancy.

UNASSIGNED: Obtaining pus swabs from perianal abscesses after incision and drainage for subsequent microbiological analysis is traditionally performed by general surgeons. Our aim is to assess the current practice in our institution, emphasizing on whether pus swabs were sent or not, as well as to identify any associations between the revealed microbiology and the occurrence of immediate post-operative complications and re-admission rates with fistula-in-ano up to 12 months post the emergency drainage. Finally, we aimed to identify if the any members of the surgical team reviewed at any stage post-operatively the results of the microbiological examination of the obtained pus swabs and if that resulted in changes of the patient management.
UNASSIGNED: We reviewed the operative findings and perioperative antimicrobial management of all patients within our institution that required surgical treatment of perianal abscesses over a 6-week period and re-assessed them after 12 months from the performed drainage, with respect to re-admission and identification of occurred fistula-in-ano.
UNASSIGNED: A total of 24 patients met our inclusion criteria. Pus swabs were sent in 66.7% of cases and only a third of the requested microbiology reports were reviewed by a part of the surgical team. All patients were discharged prior to the release of the microbiology results with no subsequent change in the management plan. We did not find any consistent association between the microbiology results and re-admission with perianal abscess, with or without fistula-in-ano.
UNASSIGNED: We do not recommend routine use of pus swabs when draining perianal abscesses unless clinical concerns arise, including recurrent perianal sepsis, immuno-compromised status or extensive soft tissue necrosis, especially when these features are associated with systemic sepsis.