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Identification and Reporting of Anal Pathology during Routine Colonoscopies

Abstract

The gold-standard procedure for anal canal examination is anoscopy. Nonetheless, patients are referred for a colonoscopy for many reasons, and a routine exam might provide an opportunity to diagnose anal pathologies, such as hemorrhoids, anal fissures, anal polyps, condylomas, and anal squamous cell carcinoma. It is important to know the main features of these conditions and relevant information to report in order to help guide patient treatment and follow-up.

Keywords
anal fissures; anal polyps; anal squamous cell carcinoma; condylomas; hemorrhoids

Introduction

Colonoscopies are one of the most commonly performed endoscopic procedures, with several indications for a referral to this examination.11 Kothari ST, Huang RJ, Shaukat A, et al; ASGE Standards of Practice Committee Chair. ASGE review of adverse events in colonoscopy. Gastrointest Endosc 2019;90(06):863–876.e33 Colonoscopy is not the gold standard for an anal canal evaluation, as a complete evaluation of the anal canal is not possible due to the limited distention during this procedure. Anoscopy is the gold-standard examination for the anal canal and cannot be replaced by colonoscopy.22 Kelly SM, Sanowski RA, Foutch PG, Bellapravalu S, Haynes WC. A prospective comparison of anoscopy and fiberendoscopy in detecting anal lesions. J Clin Gastroenterol 1986;8(06):658–660, 33 Thornton SC, Hirshorn SA, Bradway M, Levien D. Anoscopy vs. retroflexion for evaluation of the anal canal. Dis Colon Rectum 2002;45(08):1120–1121, author reply 1121 However, a proper examination of the perianal area, a digital ano-rectal examination (DARE), and a careful evaluation of the squamocolumnar junction during colonoscopy might help detect undiagnosed pathologies that can have an impact on patient care. An early detection of anal cancer improves patient survival, as the tumor diameter impacts the prognosis.44 Ajani JA, Winter KA, Gunderson LL, et al. US intergroup anal carcinoma trial: tumor diameter predicts for colostomy. J Clin Oncol 2009;27(07):1116–1121 In a study by Gomes et al.55 Gomes A, Minata MK, Jukemura J, de Moura EGH. Video anoscopy: results of routine anal examination during colonoscopies. Endosc Int Open 2019;7(11):E1549–E1562 including 12,151 patients submitted to routine colonoscopy with anoscopy, 77% were diagnosed with anal pathology. The most common were hemorrhoids, with internal grade-I hemorrhoids being identified in 48.6% and internal grades-II, III, and IV hemorrhoids observed in 19.4% of patients. Fissures were described in 3.42% of patients, polyps in 0.51%, perianal fistula in 0.35%, and condylomas in 0.15%. There were four cases of anal canal neoplasia, two cases of anal squamous cell carcinoma (SCC), and two cases of adenocarcinoma. In this study, the evaluation of the anal canal during colonoscopy helped detect bleeding sites and diagnose cancer in some patients.

In this paper, the diagnosis and reporting of anal pathology in routine colonoscopies will be discussed, including features and information related to hemorrhoids, anal fissures, anal polyps, condylomas, and anal SCC, Table 1.

Table 1
Relevant information regarding anal pathology

Digital Ano-Rectal Examination (DARE)

Despite the use of new technology, clinical examination will always play a key role in the diagnosis and prevention of anal pathology. The DARE is the first step of a colonoscopy and may detect any abnormalities of the perianus, anal canal, distal rectum, prostate, in men, and rectovaginal septum, in women. If the colonoscopy is performed in left lateral position, it is possible to inspect the perinanus after a gentle traction of the buttocks, which can expose the entire anal margin; thus, having good lighting is essential. The DARE is performed in the same way with or without general anesthesia. A gloved, lubricated index finger should be gently applied to the anal verge and inserted in the rectum once the anal sphincter is relaxed. A gentle lateral pressure between the thumb and the index finger in all four quadrants may detect any mass, induration, thickness, granulation, depression, or palpable abnormalities.66 Hillman RJ, Berry-Lawhorn JM, Ong JJ, et al; International Anal Neoplasia Society. International Anal Neoplasia Society Guidelines for the Practice of Digital Anal Rectal Examination. J Low Genit Tract Dis 2019;23(02):138–146 The palpation of the entire anal canal is assessed during slow withdrawal of the finger. Any abnormalities in terms of location (proximal, mid canal, or distal canal), position (anterior/posterior/left/right), type of lesion, size, contour, and tenderness should be described in the medical colonoscopy report. The examining finger should be inspected for blood, mucus, and feces after it is withdrawn. The procedure is short, usually taking no more than 1 minute, and it can detect palpable masses as small as 3 mm.77 Nyitray AG, D’Souza G, Stier EA, Clifford G, Chiao EY. The Utility of Digital Anal Rectal Examinations in a Public Health Screening Program for Anal Cancer. J Low Genit Tract Dis 2020;24(02): 192–196 Since teaching DARE is challenging, accuracy may be improved with an appropriate teaching process and standardization, as the one used for prostatic evaluation by digital rectal examination.88 Reis LO, Simão AF, Baracat J, Denardi F, Gugliotta A. Digital rectal examination standardization for inexperienced hands: teaching medical students. Adv Urol 2013;2013:797096

Retroflexion During Colonoscopy

Retroflexion should allow the visualization of the proximal anal canal and the distal 3 to 4 cm of rectal mucosa.99 Rex DK, Vemulapalli KC. Retroflexion in colonoscopy: why? Where? When? How? What value?. Gastroenterology 2013;144 (05):882–883

Some studies have reported an increased detection of adenomatous polyps when this maneuver is performed.1010 Varadarajulu S, Ramsey WH. Utility of retroflexion in lower gastrointestinal endoscopy. J Clin Gastroenterol 2001;32(03): 235–237, 1111 Hanson JM, Atkin WS, Cunliffe WJ, et al. Rectal retroflexion: an essential part of lower gastrointestinal endoscopic examination. Dis Colon Rectum 2001;44(11):1706–1708 A large study by Varadarajulu et al.,1010 Varadarajulu S, Ramsey WH. Utility of retroflexion in lower gastrointestinal endoscopy. J Clin Gastroenterol 2001;32(03): 235–237 which included 600 patients, evaluated whether retroflexion increased the diagnostic yield compared with straight view examination of the distal rectum. In this study, 30 patients were found to have lesions in the anorectum, with more than 50% of lesions in the rectal vault only identified by retroflexion. There are also case reports in the literature describing missed neoplastic lesions in the anorectal area due to lack of retroflexion.1212 Chittajallu V, Simons-Linares CR, Oshilaja O, Chahal P. Do not skip the retroflexion: a case of disseminated anorectal mucosal melanoma. ACG Case Rep J 2021;8(02):e00513, 1313 Sweetser S, Odunsi-Shiyanbade ST, Larson MV. A lesion on rectal retroflexion. Gastroenterology 2010;139(06):e9–e10 However, in a large study including 1,502 patients performing a routine rectal retroflexion after a forward examination of the rectum did not detect clinically important neoplasia.1414 Saad A, Rex DK. Routine rectal retroflexion during colonoscopy has a low yield for neoplasia. World J Gastroenterol 2008;14(42): 6503–6505 In addition, in a study by Cutler et al.,1515 Cutler AF, Pop A. Fifteen years later: colonoscopic retroflexion revisited. Am J Gastroenterol 1999;94(06):1537–1538 retroflexion was performed successfully in 445 of 453 patients, and in 9 cases, retroflexion did identify additional cases, but none was an adenomatous polyp (3 inflammatory pseudopolyps, 5 hyperplastic polyps, and 1 case of erosions/ulcerations). The same conclusions were drawn in a study by Reddy et al.1616 Reddy AB, Palardy LG, Reddy KB. The utility of rectal retroflexion. Am J Gastroenterol 2011;106(05):1008–1011 that included 1,513 total colonoscopies with retroflexion and antegrade viewing. In this study, 9 lesions were visible only during retroflexion (8 hyperplastic polyps and 1 benign inflammatory polyp), but none of these polyps were adenomatous. The differences between studies may be due to the fact that in the later studies, a systematic forward-viewing examination to the dentate line before retroflexion was always performed.1717 Rex DK, Schoenfeld PS. Response. Gastrointest Endosc 2015;82 (02):421–422

Some cases of rectal perforation when performing retroflexion have been described,1818 John AK, Al Kaabi S, Thandassery RB, Dweik N. Retroflexioninduced perforation during colonoscopy after polypectomy: a word of caution. Endoscopy 2015;47(1, Suppl 1 UCTN)E186

19 Tribonias G, Konstantinidis K, Theodoropoulou A, et al. Rectal perforation caused by colonoscopic retroflexion. Gastrointest Endosc 2010;71(03):662
-2020 Ahlawat SK, Charabaty A, Benjamin S. Rectal perforation caused by retroflexion maneuver during colonoscopy: closure with endoscopic clips. Gastrointest Endosc 2008;67(04):771–773 and, in some of these cases, successful closure was achieved with clips.2020 Ahlawat SK, Charabaty A, Benjamin S. Rectal perforation caused by retroflexion maneuver during colonoscopy: closure with endoscopic clips. Gastrointest Endosc 2008;67(04):771–773 In a large multicenter study including 39,054 consecutive colonoscopies, there were 4 cases of rectal perforation during rectal retroflexion (0.10 per 1,000).2121 Quallick MR, Brown WR. Rectal perforation during colonoscopic retroflexion: a large, prospective experience in an academic center. Gastrointest Endosc 2009;69(04):960–963 Cases of severe proctitis or a contracted rectal vault should be excluded from this maneuver.2222 Grobe JL, Kozarek RA, Sanowski RA. Colonoscopic retroflexion in the evaluation of rectal disease. Am J Gastroenterol 1982;77(11): 856–858 In unsedated procedures, retroflexion was impossible in 3.5% of the examinations due to discomfort.1111 Hanson JM, Atkin WS, Cunliffe WJ, et al. Rectal retroflexion: an essential part of lower gastrointestinal endoscopic examination. Dis Colon Rectum 2001;44(11):1706–1708

Some guidelines, such as the UK quality standards for colonoscopy, recommend attempting retroflexion in all cases.2323 Rees CJ, Thomas Gibson S, Rutter MD, et al.British Society of Gastroenterology, the Joint Advisory Group on GI Endoscopy, the Association of Coloproctology of Great Britain and Ireland. UK key performance indicators and quality assurance standards for colonoscopy. Gut 2016;65(12):1923–1929 In contrast, French guidelines do not make any recommendation about retroflexion, but emphasize that DARE and careful low rectal examination are necessary during colonoscopies.2424 https://www.sfed.org/professionnels/recommandations-etautres-fiches/les-recommandations/endoscopie-colo-rectale
https://www.sfed.org/professionnels/reco...

Hemorrhoids

Hemorrhoids are masses of vascular tissue in the anal canal and can be classified as internal or external. They are present at birth in three discrete masses, and internal hemorrhoids may help occlude the anus, contributing to continence.2525 Gardner IH, Siddharthan RV, Tsikitis VL. Benign anorectal disease: hemorrhoids, fissures, and fistulas. Ann Gastroenterol 2020;33 (01):9–18

A variety of anorectal complaints are diagnosed as hemorrhoids by providers who have initial contact with the patients, but bleeding and prolapse are the cardinal symptoms. Blood appears as a bright red spot on the toilet tissue or on the surface of the stools or may be abundant during the first few minutes after the stool has been expelled. A mass protruding from the anus may develop and become symptomatic with mucoid soiling when the hemorrhoids prolapse permanently.2525 Gardner IH, Siddharthan RV, Tsikitis VL. Benign anorectal disease: hemorrhoids, fissures, and fistulas. Ann Gastroenterol 2020;33 (01):9–18 Internal hemorrhoids arise from the superior hemorrhoidal vascular plexuses above the dentate line in three primary positions (right anterior, right posterior, and left lateral); they are covered by mucosa, bulge into the lumen, and are not palpable unless they are thrombosed. Internal hemorrhoids may be classified by grade, based on size and the presence of prolapse.2626 Goligher JC. Surgery of the Anus, Rectum and Colon. fourth ed. Baillière Tindall; London, UK1980. Haemorrhoids or piles; p. 96 Grade-I hemorrhoids project a short way into the anal canal, and the only symptom is occasional bleeding. Grade II hemorrhoids prolapse with defecation but reduce spontaneously. Grade-III hemorrhoids prolapse with defecation, but must be reduced manually, and grade-IVhemorrhoids are irreducible. Grade-IV prolapse can be visible prior to colonoscopy, but anoscopy with and without straining of the patient is necessary to evaluate the anus thoroughly. Treatment should be adapted to symptoms and hemorrhoid grade. Conservative medical treatment with increased fiber intake and avoiding constipation is usually sufficient for grade-I hemorrhoids. Rubber band ligation is an efficient office procedure and is most commonly performed for bleeding grade-II or -III hemorrhoids. Various surgical procedures may be recommended when medical or instrumental treatment has failed, or immediately for symptomatic grade-IV hemorrhoids or in the case of anemia with iron deficiency.2727 Gallo G, Martellucci J, Sturiale A, et al. Consensus statement of the Italian society of colorectal surgery (SICCR): management and treatment of hemorrhoidal disease. Tech Coloproctol 2020;24 (02):145–164

External hemorrhoids are dilatations of the inferior hemorrhoidal plexuses lying below the dentate line that are covered by anoderm and perianal skin; visible to examination in the subcutaneous tissue, particularly in the case of thrombosis, with a blood clot appearing as a tender, blue spherical mass from a few millimeters to several centimeters in diameter; and responsible for acute pain. The overlying skin is tense and edematous, or sometimes thin and ulcerated, with partial extrusion of the clot. Medical treatment is often sufficient; however, excision may be an option within the first 48 hours. Skin tags may be residue of resolved thrombosed external hemorrhoids. Surgery could be considered in recurrent acute thrombosis or persistent symptoms.2525 Gardner IH, Siddharthan RV, Tsikitis VL. Benign anorectal disease: hemorrhoids, fissures, and fistulas. Ann Gastroenterol 2020;33 (01):9–18

A colonoscopy with retroflexion does not enable a complete proctologic evaluation for hemorrhoids, and an anoscopy is needed.

Anal Fissure

Fissures are defined as anal lacerations in the anal mucosa below the dentate line.2828 Appalaneni V, Fanelli RD, Sharaf RN, et al; ASGE TECHNOLOGY COMMITTEE. The role of endoscopy in patients with anorectal disorders. Gastrointest Endosc 2010;72(06):1117–1123 Patients normally present with pain (a sharp sensation during or immediately after evacuation)2929 Hananel N, Gordon PH. Re-examination of clinical manifestations and response to therapy of fissure-in-ano. Dis Colon Rectum 1997;40(02):229–233 and bleeding (bright red and scanty).3030 Sotoudehmanesh R, Ainechi S, Asgari AA, Kolahdoozan S. Endoscopic lesions in low-to average-risk patients with minimal bright red bleeding from midline anal fissures. How much should we go in? Tech Coloproctol 2007;11(04):340–342 Fissures typically occur in young or middle-aged adults and are equally common in both genders.2929 Hananel N, Gordon PH. Re-examination of clinical manifestations and response to therapy of fissure-in-ano. Dis Colon Rectum 1997;40(02):229–233

Anal fissures can be acute or chronic, and these different types of fissures have distinct features. An acute fissure appears as a regular laceration, while chronic fissures have an external skin tag (sentinel tag), a hypertrophied anal papilla, and a white base of linear exposed fibers (Figs. 1a and 1b).2828 Appalaneni V, Fanelli RD, Sharaf RN, et al; ASGE TECHNOLOGY COMMITTEE. The role of endoscopy in patients with anorectal disorders. Gastrointest Endosc 2010;72(06):1117–1123

Fig. 1
(a) Acute anal fissure. (b) Chronic anal fissure.

The number and location of the fissures should be reported. Fissures most commonly occur first in the posterior midline, followed by the anterior midline.2929 Hananel N, Gordon PH. Re-examination of clinical manifestations and response to therapy of fissure-in-ano. Dis Colon Rectum 1997;40(02):229–233 Off-midline fissures can be associated with other conditions, namely Crohn disease, human immunodeficiency virus (HIV), syphilis, and tuberculosis, and appropriate follow-up to check for these conditions might be needed.3030 Sotoudehmanesh R, Ainechi S, Asgari AA, Kolahdoozan S. Endoscopic lesions in low-to average-risk patients with minimal bright red bleeding from midline anal fissures. How much should we go in? Tech Coloproctol 2007;11(04):340–342

Anal Polyps

Though more commonly found higher in the colon and rectum, polyps can also be seen in the anal canal or protruding from the anus. Adenomatous polyps (tubular, tubulovillous, and villous) or hyperplastic polyps have the same characteristics as those higher in the digestive tract and should be considered colonic polyps. Adenomatous polyps should be removed, and potential malignancy should be considered before resection.3131 Shaukat A, Kaltenbach T, Dominitz JA, et al. Endoscopic Recognition and Management Strategies for Malignant Colorectal Polyps: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology 2020;159(05):1916–1934.e2 The finding during an anoscopy of an adenomatous polyp, regardless of size, is an indication for a total colonic examination.3232 Read TE, Read JD, Butterly LF. Importance of adenomas 5 mm or less in diameter that are detected by sigmoidoscopy. N Engl J Med 1997;336(01):8–12

Many benign anal polypoid lesions can be seen at the end of a colonoscopy during the withdrawal of the colonoscope or during the retroflexion if performed. A hypertrophied anal papilla is a whitish fibrous polypoid anal structure with a slender base at the pectinate line (Fig. 2) and can be differentiated from an adenomatous polyp by its white appearance and its origin from the lower squamous aspect of the dentate line in the anal canal.3333 Gupta PJ. Hypertrophied anal papillae and fibrous anal polyps, should they be removed during anal fissure surgery? World J Gastroenterol 2004;10(16):2412–2414 Generally, when not symptomatic, a hypertrophic papilla should be ignored and differentiated from fibrosed-hypertrophied papillae, which are frequently found in the upper part of a chronic fissure. Inflammatory pseudopolyps associated with inflammatory bowel disease should be dismissed.3434 Bouchard D, Abramowitz L, Bouguen G, et al. Anoperineal lesions in Crohn’s disease: French recommendations for clinical practice. Tech Coloproctol 2017;21(09):683–691 Rare melanoma, presenting as a dyschromic lesion, should be recognized and managed according to extension.3535 Bansal R, Ghanta H, Blue R, Sharma R. Anorectal polyp. Acta Gastroenterol Belg 2021;84(02):387–388 Due to histologic variations in the anal canal and margin, a variety of common and rare benign lesions might present as anal polyps, with varied implications: cysts, lipomas, papillary hidradenomas, melanocytic nevi, hamartomas, xanthogranulomas, seborrheic keratosis, fibrous histiocytomas, granular cell tumors, and lymphangiomas have all been described.3636 AbdullGaffar B, Keloth T, Al-Hattawi M, Al Marzouqi M, ElTayeb Y. Benign anal and perianal polypoid neoplasms and tumor-like lesions. Pathol Res Pract 2012;208(12):719–725 Most of these lesions were clinically asymptomatic, and in a few cases were incidentally discovered during routine colonoscopy.3636 AbdullGaffar B, Keloth T, Al-Hattawi M, Al Marzouqi M, ElTayeb Y. Benign anal and perianal polypoid neoplasms and tumor-like lesions. Pathol Res Pract 2012;208(12):719–725

Fig. 2
Hypertrophied anal papilla seen during retroflexion.

Anal and Perianal Condylomas

Condylomas are cauliflower-type lesions associated with anal HPV infection that can occur in the anogenital area, including the perianal area and/or anal canal (Figs. 3a and 3b).3737 Albuquerque A, Medeiros R. New insights of the role of human papillomavirus in anal cancer and anal wart development. Acta Cytol 2019;63(02):118–123

Fig. 3
(a) Perianal condylomas and perianal area after treatment of condylomas with argon. (b) anal condylomas diagnosed during retroflexion with NBI.

Recommendations state that atypical lesions that do not respond or worsen during treatment or those with an uncertain diagnosis should be sent for histological analysis.3838 Park IU, Introcaso C, Dunne EF. Human papillomavirus and genital warts: a review of the evidence for the 2015 Centers for Disease Control and Prevention sexually transmitted diseases treatment guidelines. Clin Infect Dis 2015;61(Suppl 8):S849–S855

Condylomas have been considered benign lesions, but a recent meta-analysis by Albuquerque et al.3939 Albuquerque A, Cappello C, Stirrup O. High-risk human papilloma virus, precancerous lesions and cancer in anal condylomas. AIDS 2021;35(12):1939–1948 showed that the prevalence of anal high-grade squamous intraepithelial lesions (HSILs) in anal condylomas from immunocompromised patients was 24.0% (16.4% − 33.7%), and high-risk HPV infection was present in 40.2% (21.0-63.1%) of these patients. Patients, especially men, with a history of anal condylomas have a high risk of anal SCC. The standardized incidence ratio of anal SCC in patients with a history of anal condylomas was 10.7 (8.5 − 13.5), with a standardized incidence ratio of 20.1 (14.4 − 28.2) in men and 7.7 (5.6 − 10.5) in women. The overall incidence rate of anal SCC in individuals with a history of anal condylomas was 6.5 per 100,000 person-years (3.6 − 11.7), 12.7 (9.1 − 17.8) in men and 4.7 (1.7 − 13) in women.3939 Albuquerque A, Cappello C, Stirrup O. High-risk human papilloma virus, precancerous lesions and cancer in anal condylomas. AIDS 2021;35(12):1939–1948

Perianal condylomas can be associated with intra-anal condylomas, and, when present, an evaluation of the anal canal with anoscopy might be needed.4040 Bushby SA, Chauhan M. Management of internal genital warts: do we all agree? A postal survey. Int J STD AIDS 2008;19(06):367–369 Data from the Australian Study of the Prevention of Anal Cancer (SPANC), which included men who have sex with men (MSM) and bisexual men aged 35 years and older, showed that many of the patients with anal condylomas did not have a known history of this condition, suggesting that many were unaware of this diagnosis. In a total of 604 patients with available data, 273 (45.2%) reported a history of anal condylomas. Of the 604 patients, 51 (8%) had perianal condylomas, 23 of whom (45%) also had intra-anal condylomas.4141 Goddard SL, Templeton DJ, Petoumenos K, et al; Study for the Prevention of Anal Cancer (SPANC) Research Team. Prevalence and Association of Perianal and Intra-Anal Warts with Composite High-Grade Squamous Intraepithelial Lesions Among Gay and Bisexual Men: Baseline Data from the Study of the Prevention of Anal Cancer. AIDS Patient Care STDS 2020;34(10):436–443

Several therapeutic procedures have been described for treatment of anal condylomas, including topical therapies and ablative procedures. In addition, argon plasma coagulation has been described as a possible therapy for anal condylomas.4242 Celayir MF, Kartal K, Mihmanli M. A comparative study of two techniques in the treatment of condyloma acuminata. Ann Ital Chir 2018;89:455–460, 4343 Weyandt GH, Benoit S, Becker JC, Bröcker EB, Hamm H. Kontrollierte schichtweise Abtragung anogenitaler Warzen mittels Argon-plasma-Koagulation. [Controlled layered removal of anogenital warts by argon-plasma coagulation]J Dtsch Dermatol Ges 2005;3(04):271–275

Anal Squamous Cell Carcinoma

Anal cancer and anal SCC are frequently used synonymously, as anal SCC is the most common histological type of anal cancer. Other types of anal cancers, such as adenocarcinoma, melanoma, neuroendocrine tumors, and anal lymphoma, can also occur.4444 Shia J. An update on tumors of the anal canal. Arch Pathol Lab Med 2010;134(11):1601–1611

People living with HIV that are MSM comprise the highest risk group for SCC.4545 Clifford GM, Georges D, Shiels MS, et al. A meta-analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale. Int J Cancer 2021;148(01):38–47 Solid organ transplant recipients, especially women with more than 10 years post-transplantation; women with genital neoplasia, especially those with vulvar high-grade lesions or cancer; patients with systemic lupus erythematosus; and patients with inflammatory bowel disease are other high-risk groups for anal SCC.4545 Clifford GM, Georges D, Shiels MS, et al. A meta-analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale. Int J Cancer 2021;148(01):38–47

Without a proper evaluation of the perianal area and the anal canal, anal SCC might be missed. In patients with an increased incidence of anal SCC that are referred to colonoscopy, retroflexion should be performed allowing for the visualization of the squamocolumnar junction (Fig. 4) and any lesion that might be suggestive of an anal cancer.4646 Albuquerque A, Nathan M, Cappello C, Dinis-Ribeiro M. Anal cancer and precancerous lesions: a call for improvement. Lancet Gastroenterol Hepatol 2021;6(04):327–334

Fig. 4
Colonoscopy with retroflexion showing a normal squamocolumnar junction seen with NBI.

If diagnosed with anal SCC, the patient should be referred to a multidisciplinary team meeting. The first-line therapy for anal SCC is chemotherapy and radiotherapy.4747 Benson AB, Venook AP, Al-Hawary MM, et al. Anal Carcinoma, Version 2.2018, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw 2018;16(07):852–871

Most of the precancerous lesions, named anal HSILs, occur in the squamocolumnar junction and are not visible to the naked eye.4848 Maugin F, Lesage AC, Hoyeau N, et al. Early detection of anal highgrade squamous intraepithelial lesion: do we have an impact on progression to invasive anal carcinoma? J Low Genit Tract Dis 2020;24(01):82–86 In the high-risk groups, the observation of the squamocolumnar junction with retroflexion might also help detect anal precancerous lesions or cancer. A complete observation of the entire anal canal and of the perianal area is not possible during colonoscopy4646 Albuquerque A, Nathan M, Cappello C, Dinis-Ribeiro M. Anal cancer and precancerous lesions: a call for improvement. Lancet Gastroenterol Hepatol 2021;6(04):327–334; in contrast, high-resolution anoscopy is a technique that allows the observation of the anal canal and perianal area under magnification using a colposcope.4949 Palefsky JM. Practising high-resolution anoscopy. Sex Health 2012;9(06):580–586 The application of 5% acetic acid (acid-induced white lesions) helps to reveal a typical pattern including mosaic and punctation.4949 Palefsky JM. Practising high-resolution anoscopy. Sex Health 2012;9(06):580–586, 5050 Albuquerque A. High-resolution anoscopy: Unchartered territory for gastroenterologists? World J Gastrointest Endosc 2015;7(13): 1083–1087 Cancers have more disruptive vascular changes4949 Palefsky JM. Practising high-resolution anoscopy. Sex Health 2012;9(06):580–586, 5050 Albuquerque A. High-resolution anoscopy: Unchartered territory for gastroenterologists? World J Gastrointest Endosc 2015;7(13): 1083–1087 and can present as an ulcer (Fig. 5a) or a mass (Fig. 5b). Anal HSILs are normally Lugol negative; however, when applying a Lugol solution, the typical pattern is not seen, but it can help in the clear delineation of the margins.4949 Palefsky JM. Practising high-resolution anoscopy. Sex Health 2012;9(06):580–586 The results of one study seem to suggest that acetic acid and narrow-band imaging (NBI) applied together during endoscopy might help detect more lesions.5151 Inkster MD, Wiland HO, Wu JS. Detection of anal dysplasia is enhanced by narrow band imaging and acetic acid. Colorectal Dis 2016;18(01):O17–O21

Fig. 5
(a) Anal squamous cell carcinoma presenting as an ulcer in the squamocolumnar junction seen during a colonoscopy. (b) Anal squamous cell carcinoma presenting as a mass during colonoscopy.

Pathology reports of anal biopsies might look unfamiliar to many endoscopists. For anal precancerous lesions, pathologists can use one of two classifications. One of these is the anal intraepithelial neoplasia (AIN) or perianal intraepithelial neoplasia (PAIN) classification: AIN1 (mild dysplasia), AIN2 (moderate dysplasia), and AIN3 (severe dysplasia). In AIN2 cases, it is important to perform staining for the histochemical marker p16, as AIN2 p16-negative lesions are low-grade and AIN2 p16-positive lesions are considered high-grade. In contrast, in the Lower Anogenital Squamous Terminology classification,5252 Darragh TM, Colgan TJ, Cox JT, et al; Members of LAST Project Work Groups. The Lower Anogenital Squamous Terminology Standardization Project for HPV-Associated Lesions: background and consensus recommendations from the College of American Pathologists and the American Society for Colposcopy and Cervical Pathology. J Low Genit Tract Dis 2012;16(03):205–242 lesions are classified as low-grade squamous intraepithelial lesions (LSILs) or HSILs. Anal intraepithelial neoplasia (AIN)1 and AIN2 p16-negative lesions are LSILs with a very low risk of progression and no treatment needed,5353 Screening for Anal Dysplasia and Cancer in Patients with HIV. https://www.hivguidelines.org/hiv-care/anal-dysplasia-cancer#
https://www.hivguidelines.org/hiv-care/a...
while AIN2 p16-positive and AIN3 lesions are HSIL.

A randomized control trial including 4,446 persons living with HIV ≥ 35 years old with anal HSIL randomized patients to receive either HSIL treatment or active monitoring without treatment. The risk of anal cancer was significantly lower with anal HSIL treatment than with active monitoring.5454 Palefsky JM, Lee JY, Jay N, et al; ANCHOR Investigators Group. Treatment of Anal High-Grade Squamous Intraepithelial Lesions to Prevent Anal Cancer. N Engl J Med 2022;386(24): 2273–2282

Conclusions

A careful colonoscopy should not replace a proper anal evaluation by anoscopy; however, when patients are referred for a routine colonoscopy and anal pathology is seen, an evaluation should be performed to make a diagnosis. The first step is a careful DARE, which might help detect even small (suspicious) lesions. The second step is a careful examination of the low rectum with a slow withdrawal of the colonoscope and visualization of the squamocolumnar junction. Because some perforations have been described, retroflexion during colonoscopy is not systematically recommended by all endoscopic societies, but it might help in the examination of the low rectum and upper anal canal. Hemorrhoids are one of the most common diagnoses, and a diagnosis and classification should be provided whenever possible, as this can explain patient symptoms (e.g., bleeding) and have implications for therapy. Anal fissures can also be diagnosed with a careful examination, and the type, number, and location can be provided. The endoscopist should be able to perform a differential diagnosis between anal polyps and hypertrophic papillae, the latter of which should be dismissed. Patients with anal condylomas have a higher risk of anal SCC and condylomas might harbor anal precancerous lesions. In high-risk groups for anal SCC referred for colonoscopy, a careful DARE and examination of the squamocolumnar junction might help detect cancer.

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References

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Publication Dates

  • Publication in this collection
    04 Aug 2023
  • Date of issue
    Apr-Jun 2023

History

  • Received
    27 Jan 2023
  • Accepted
    19 Apr 2023
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