Primary signet-ring cell carcinoma of the anal canal and rectum is an extremely rare and aggressive malignancy. The present case underscores the importance of considering primary signet-ring cell carcinoma in differential diagnoses for young patients with chronic anorectal symptoms. It highlights the need for a multidisciplinary treatment approach (including surgery, chemotherapy, and radiotherapy) and comprehensive follow-up for managing this challenging condition and improving long-term patient outcomes.

Primary signet-ring cell carcinoma of the anal canal and rectum is an exceedingly rare subtype of colorectal adenocarcinoma, often originating as an extension of rectal adenocarcinoma. This malignancy constitutes a small fraction of colorectal cancers and is scarcely reported in medical literature. We present the case of an 18-year-old male with a three-year history of progressively worsening hematochezia, anorectal pain, and defecation-associated prolapse. Initial conservative treatments failed, leading to further investigations that revealed a palpable, nodular anorectal mass. Imaging studies (including CT and MRI), and biopsy confirmed poorly differentiated adenocarcinoma with signet-ring cell morphology. The tumor exhibited extensive lymphovascular invasion and involved perirectal lymph nodes, and was staged as pT3, N2a. Immunohistochemical staining was positive for CK 7, CK 20, and SATB2, supporting the primary anorectal origin. The treatment regimen included initial diversion colostomies for symptom relief, followed by neoadjuvant chemotherapy with a modified 5-fluorouracil, leucovorin, irinotecan, and oxaliplatin (FOLFIRINOX) regimen and concurrent chemoradiation with Xeloda. The patient subsequently underwent an abdominoperineal resection (APR), which confirmed the diagnosis and achieved curative resection. Postoperative complications included transient ileus and wound infection, which were managed with supportive care. This case underscores the diagnostic and therapeutic challenges posed by primary signet-ring cell carcinoma of the anorectal region, highlighting the need for a high index of suspicion and comprehensive diagnostic workup in atypical presentations. The multimodal treatment approach, incorporating surgery, chemotherapy, and radiotherapy, was crucial in managing this locally advanced tumor. The rarity and aggressiveness of this carcinoma necessitate a tailored treatment strategy to improve patient outcomes. Long-term follow-up, including regular imaging and surveillance, is vital for monitoring disease recurrence and evaluating treatment effectiveness.

The malignant transformation of chronic fistula in ano is rare, accounting for 3% to 11% of all anal canal malignancies. It results from long-standing inflammation and chronic irritation. No guidelines are available for the management of these cases. We herein present a case report of a 55-year-old man who presented with a history of constipation, perianal pain, and discharging fistula in ano of 4-year duration and underwent fistula surgery with recurrence. Biopsy of the fistulous tract revealed adenocarcinoma. He received neoadjuvant chemoradiotherapy, followed by abdominoperineal excision including excision of the fistulous tract. After 18 months of follow-up, he is free of recurrence. We present this case with a review of the literature, highlighting the management strategies.

Abscess or fistula of the anal region is an uncommon presentation of malignancy. Under the assumption of a benign condition, diagnostics is often delayed, resulting in advanced tumour stages at first diagnosis. Due to the case rarity, treatment guidelines for cancers of anorectal region masquerading as abscess or fistula are missing.

We analysed all patients presenting with an abscess or fistula of the anal region in our department between January 2004 and August 2020. The malignancies were included to our study to acquire data on clinical presentation, treatment and outcome. Furthermore, a systematic review to present adenocarcinomas and squamous cell carcinomas associated to an abscess or fistula was performed.

0.5% of the patients treated for an abscess or fistula of the anal region met the selection criteria. Mean time from the onset of symptoms to diagnosis of malignancy was 100 days. Histology revealed adenocarcinoma and squamous cell carcinoma each in two patients. All patients had locally advanced tumours without distant metastases, in two cases with regional lymph-node metastases. Neoadjuvant chemoradiation was applied in two patients. All patients underwent abdomino-perineal resection of the rectum. The overall outcome reveals a recurrence-free survival of 4.5 and 3 years for two patients. Further two patients died within 5 months after the primary resection.

Advanced carcinomas of the anorectal region may masquerade as abscess or fistula, cause diagnostic problems and delay oncologic treatment. However, even in these very advanced situations, surgical therapy with curative intent should be attempted.

Acute anorectal abscess and fistula are common conditions that usually presents as a painful lump close to the anal margin. Tumors in the distal rectum and in the perianal region may mimic the symptoms and signs of anorectal sepsis, thereby leading to a delay in diagnosis and management. The purpose of this study was to describe patients presenting with acute perianal abscess or fistula who were subsequently diagnosed with anorectal cancer.

We performed a retrospective, review of all cases presenting with acute perianal abscess or fistula who were subsequently found to have anorectal carcinoma on biopsy in two tertiary centers. We analyzed the data focusing on the clinical features, laboratory values, clinical staging of the tumors, the subsequent management, the pathological staging, and the outcome of each patient.

Overall, 3219 patients presenting with anorectal abscess or fistula were reviewed. Cancer was diagnosed in 16 (.5%) patients, 12 with adenocarcinoma of the rectum and 4 with squamous cell carcinoma of the anus. In 5 patients (31.2%), cancer was diagnosed in the setting of chronic perianal fistula, 4 of them had Crohn's disease. In 10 patients (62.5%), cancer was not diagnosed during the initial evaluation of the acute symptoms.

A high index of suspicion is required to make the diagnosis of perianal tumors when assessing patients presenting with perianal sepsis, particularly those with Crohn's disease, a long history of persistent perianal disease, and an advanced age. In most cases, proper drainage followed by proximal diversion are the surgical treatment of choice in the acute setting.

Anorectal cancer arising in IBD can be challenging to manage. There is a paucity of reports describing locally advanced and recurrent anorectal cancer in this setting.

This study aimed to describe patients who underwent extended radical pelvic resection for locally advanced and recurrent IBD-associated anorectal cancer.

This is a retrospective review of a prospectively maintained database of extended radical pelvic resection.

This study was conducted at a quaternary pelvic malignancy referral center.

All of the patients who underwent extended radical pelvic resection for IBD-associated anorectal cancer between September 1994 and September 2019 were included.

Demographic, operative, and oncologic outcomes were assessed.

Ten patients (1.3%) were identified of 765 (6 men; median age = 51 y). The average time from the diagnosis of IBD to cancer was 23 years. Five patients had surgery for primary cancer previously. All of the patients had previous complex abdominal and perineal surgical interventions. There were 7 adenocarcinomas and 3 squamous cell carcinomas. Nine underwent pelvic exenteration and 1 rectal resection with radical vaginectomy. The median operating time, intraoperative blood loss, and blood transfusion were 698 minutes, 1.8 L, and 4.5 units. The median hospital stay was 24 days. The operative mortality and morbidity rates were 0% and 60%. At a median follow-up of 51.3 months, 7 patients remained alive and free of cancer.

This is a retrospective study of a small number of patients.

Extended radical pelvic resection offers a potential cure for locally advanced and recurrent IBD-associated anorectal cancer with acceptable operative mortality and morbidity rates. A high index of suspicion is required to achieve early diagnosis. Multiple factors need to be considered in the multimodal treatment of such complex patients. See Video Abstract at http://links.lww.com/DCR/B418.

ANTECEDENTES:Cáncer anorrectal surgiendo de la enfermedad inflamatoria intestinal, puede ser difícil de manejar. Hay escasez de informes que describan el cáncer anorrectal localmente avanzado y recurrente en este contexto.OBJETIVO:El estudio tiene como objetivo, describir a los pacientes que se sometieron a resección pélvica radical extendida por cáncer anorrectal recurrente y localmente avanzada, asociada con enfermedad inflamatoria intestinal.DISEÑO:Esta es una revisión retrospectiva, de una base de datos mantenida prospectivamente de resección pélvica radical extendida.AJUSTES:El estudio se realizó en un centro de referencia cuaternaria en malignidad pélvica.PACIENTES:Se incluyeron a todos los pacientes sometidos a resección pélvica radical ampliada por cáncer anorrectal, asociada a enfermedad inflamatoria intestinal entre septiembre de 1994 y septiembre de 2019.PRINCIPALES MEDIDAS DE RESULTADO:Se evaluaron los resultados demográficos, quirùrgicos y oncológicos.RESULTADOS:Diez pacientes (1.3%) fueron identificados de 765 (seis masculinos; mediana de edad 51 años). El tiempo promedio desde el diagnóstico de la enfermedad inflamatoria intestinal hasta el cáncer, fue de 23 años. Cinco pacientes fueron previamente sometidos a cirugía por cáncer primario. Todos los pacientes tuvieron previamente, intervenciones quirúrgicas abdominales y perineales complejas. Hubo siete adenocarcinomas y tres carcinomas de células escamosas. Nueve se sometieron a exenteración pélvica y una a resección rectal con vaginectomía radical. La mediana del tiempo de operación, pérdida de sangre intraoperatoria y transfusión sanguínea, fueron 698 minutos, 1.8 litros y 4.5 unidades respectivamente. La mediana de la estancia hospitalaria fue de 24 días. Las tasas de mortalidad y morbilidad operatoria fueron 0% y 60% respectivamente. En una mediana de seguimiento de 51,3 meses, siete pacientes permanecieron vivos y libres de cáncer.LIMITACIONES:Es un estudio retrospectivo con número pequeño de pacientes.CONCLUSIONES:La resección pélvica radical extendida, ofrece una cura potencial para el cáncer anorrectal recurrente y localmente avanzada, asociada a0 enfermedad inflamatoria intestinal y con tasas aceptables de mortalidad y morbilidad operatoria. Se requiere un alto índice de sospecha para obtener un diagnóstico temprano. Se deben considerar múltiples factores en el tratamiento multimodal de pacientes tan complejos. Consulte Video Resumen en http://links.lww.com/DCR/B418. (Traducción-Dr Fidel Ruiz Healy).

Perianal mucinous adenocarcinoma is rarely encountered in the setting of anal neoplasms. The rarity of the disease and the paucity of publications on this topic are responsible for a lack of diagnostic and therapeutic guidelines.

An 80-year-old man with mucinous adenocarcinoma of the anal canal associated with dysplastic polyps of the colon was treated by multiple endoscopic polypectomies and abdomino-perineal resection of the rectum. We discuss the management of this rare case from the diagnosis up to one-year follow-up.

Perianal mucinous adenocarcinoma is a very rare entity frequently combined with chronic fistulas. Inflammatory symptoms may mislead its diagnosis, which is often delayed. The unique association between perianal mucinous adenocarcinoma and dysplastic polyps of the colon, that we have reported, may suggest a secondary etiology. High clinical suspicion is important for early and correct diagnosis, which should be based on endoanal ultrasound and/or magnetic resonance imaging followed by deep tissue biopsies.

We stress the importance of accumulating such cases in the literature. The understanding of the etiopathogenic mechanisms may lead to the development of novel diagnostic and therapeutic protocols.

Anal adenocarcinoma (AA) represents a rare condition, and little is known about the predictive factors of the outcomes or the optimal TNM staging system for curable AA. Using population-based data, we preliminarily sought to determine the prognostic factors and evaluate the existing T and N staging criteria of AA.

We analyzed the Surveillance, Epidemiology, and End Results 18 database to identify patients 20-80 years old who were diagnosed with AA or rectal adenocarcinoma (RA) and underwent abdominal perineal resection between 2004 and 2012. The difference between Kaplan-Meier survival curves was estimated by a log-rank test. A Cox proportional hazard regression model was used to adjust the effects of other covariates on survival in the propensity score-matched cohort, including age, gender, race, marital status, histology, grade of differentiation, tumor size, number of positive lymph nodes, radiotherapy, and chemotherapy.

Compared to patients with RA, patients with AA had a worse CSS after controlling for other covariates (hazard ratio [HR], 1.96; 95% confidence interval [CI], 1.25-3.07; P<0.01). For AA, the increasing tumor size (2-5 cm: HR, 0.62; 95% CI, 0.29-1.32; P>0.05; >5 cm: HR, 1.01; 95% CI, 0.49-2.07; P>0.05) had no significant influence on survival. The number of positive lymph nodes (1-3: HR, 2.93; 95% CI, 1.55-5.53; P<0.01; ≥4: HR, 4.24; 95% CI, 2.08-8.62; P<0.01) significantly influenced survival.

AA confers a worse prognosis than RA does. The T staging criteria of anal carcinoma, dominated by tumor size, seem to be invalid for AA, while the number of positive lymph nodes is a prognostic factor.

Mucinous adenocarcinoma associated with an anal fistula is a rare oncologic entity which may pose diagnostic and therapeutic challenges for Surgeons and Medical Oncologists. Few reported cases without definite therapeutic guidelines exist. It represents 2-3% of all gastrointestinal malignancies and arises from chronic anal fistulas, ischiorectal or perianal abscesses. We report a case of perianal mucinous adenocarcinoma in a 65-year-old male initially surgically treated multiple times for a recurrent fistula in ano of 5 years duration. He presented with an ischiorectal and a perianal fistula. Incisional biopsy from fistulotomy revealed mucinous adenocarcinoma. Contrast enhanced computed tomography scan and magnetic resonance imaging showed a localized perianal growth of a tumor which was further evaluated with colonoscopy. With no evidence of metastasis, we performed a laparoscopic abdominoperineal resection (APR). Two years follow-up after APR and without adjuvant chemotherapy there is not any evidence of recurrence or distant metastasis.

Mucinous adenocarcinoma on perianal fistula is a rare entity; it could be underdiagnosed because it behaves often as a regular perianal fistula.

We have recently treated four cases in our unit. We present them and review the literature, emphasizing on clinical characteristic and therapeutic options. The four patients were male with a mean age of 64. Three of them were classified as locally advances cases and therefore treated with neoadjuvant therapy.

All of them underwent laparoscopic abdominoperineal escisión. Surgical specimens are described and clinical characteristic specified. Review of the literature shows that this disease has a very high potential risk of local recurrence and we must be aggressive with the resection. Sometimes plastic surgery is needed to reconstruct the perianal wound.

Mucinous adenocarcinoma associated with anal fistula is a rare disease. Neoadjuvant chemoradiotherapy followed by an adequate abdominoperineal excision may result in favourable outcomes.

We describe the diagnosis and management of a patient with a progressively enlarging, non-healing ischiorectal wound. This patient was further evaluated with radiological investigations which showed the presence of a large left ischiorectal fossa mass. Histology confirmed this mass as an anal adenocarcinoma. Anal Adenocarcinoma is a rare condition that can arise from chronic inflammatory states. Treatment requires an abdomino-perineal resection with neoadjuvant therapy, and the goal of surgery is to achieve clear resection margins.

Cancer arising from perianal fistulas in patients with Crohn's disease is rare. There are only a small series of articles that describe sporadic cases of perianal cancer in Crohn's disease fistulas. Therefore, there are no clear guidelines on how to appropriately screen patients at risk and choose proper management.

The purpose of this study was to describe patients diagnosed with cancer in perianal fistulas in the setting of Crohn's disease.

The study involved an institutional review board-approved retrospective review of medical charts of patients with perianal Crohn's disease. The data extracted from patient charts included demographic and clinical characteristics.

Patients seen at the Mount Sinai Medical Center were included.

We identified patients who were diagnosed with perianal cancer in biopsies of fistula tracts.

We observed the number of patients with Crohn's disease who had fistulas, cancer in fistula tract, and time to diagnosis.

The charts of 2382 patients with fistulizing perianal Crohn's disease were reviewed. Cancer in a fistula tract was diagnosed in 19 (0.79%) of these patients, 9 with squamous-cell carcinoma and 10 with adenocarcinoma. The majority of the 19 patients (68%) had symptoms typical of perianal fistula. The mean time from diagnosis of Crohn's disease to fistula diagnosis and from fistula diagnosis to cancer diagnosis was 19.4 and 6.0 years. In 5 patients (26%), cancer was not diagnosed in the first biopsy obtained from the fistula tract.

This is a retrospective chart review of a rare outcome; the results may not be generalizable.

Routine biopsies of long-standing fistula tracts in patients with Crohn's disease should be strongly considered and may yield an earlier diagnosis of cancer in the fistula tracts.

Anal adenocarcinoma is a rare condition and can arise in chronic inflammatory states such as in Crohn's disease, or in a chronic fistula-in-ano. We report our diagnosis and management of a patient who presented with a large perineal lump with a long-standing history of perianal fistulous disease. This was initially evaluated with a Magnetic Resonance Imaging, and the diagnosis was confirmed with biopsy. Multimodality treatment with chemoradiotherapy and surgery should be offered to achieve the best outcomes.