Ectopic salivary gland found on rectal biopsy-a rare pathological diagnosis.

BACKGROUND: Heterotopic tissue can be found throughout the GI tract, most commonly being gastric tissue. The finding of ectopic salivary tissue located in the GI tract is an exceedingly rare finding. We present a case of an otherwise healthy 30-year-old male with rectal bleeding who underwent biopsy of a submucosal rectal lesion with pathologic findings of ectopic salivary gland tissue. CASE PRESENTATION: Our patient is a 30-year-old male who presented with rectal bleeding. During his workup, he underwent colonoscopy and subsequent endoscopic ultrasound after discovery of a submucosal mass in the rectum measuring approximately 2 × 1 cm. Biopsies were sent which returned showing ectopic salivary gland tissue superimposed on hyperplastic rectal mucosa. The patient's symptoms resolved and he has not had recurrence of bleeding. CONCLUSIONS: Ectopic salivary gland tissue is a rare pathological finding in the rectum. It can present as a symptomatic lesion or be found incidentally. There is no clear reason for its presence, but it is felt to be due to metaplasia, developmental anomalies, or idiopathic in nature. Treatment includes excision and monitoring.

Frequent rectal gastrointestinal stromal tumor recurrences in the imatinib era: Retrospective analysis of an International Patient Registry.

INTRODUCTION: Rectal gastrointestinal stromal tumor (GIST) is rare and comprises about 3% of GIST. METHODS: Registry data was collected by the Life Raft Group June 1976 to November 2017. All patients had a histologic GIST diagnosis. Demographic, clinicopathologic, and clinical outcome data were patient reported. Recurrence-free survival (RFS) was analyzed using the Kaplan-Meier method and Cox regression analysis. RESULTS: Of 1798 patients in the database, 48 had localized rectal GIST (2.7%). Patients were frequently male (58.3%) and non-Hispanic whites (58.3%). Median age at diagnosis was 52 years. Most patients (77%) were diagnosed in the imatinib era (2001 to current). Over half (54.2%) of the cohort had mutation testing and all profiled tumors possessed KIT mutations (exon 9: 7.7%, exon 11: 88.5%, and exon 13: 3.8%). Most evaluable patients (26/28; 92.9%) had high-risk disease (modified NIH criteria) and nearly all patients (95.8%) received imatinib. Median follow-up was 8.8 years (range, 0.3-30.7) and overall RFS was 8.0 years (95% CI, 2.9-13.1). Thirty-two percent (12/37) of patients in the post-imatinib era developed recurrent disease. Diagnosis in the imatinib era was associated with improved RFS (HR = 0.22, 95% CI, 0.08-0.62; P = .004) in the multivariable model. CONCLUSION: We find that disease recurrence remains prevalent in one-third of patients treated during the imatinib-era.

Laparoscopy following peritoneal entry during transanal endoscopic microsurgery may increase the safety and maximize the benefits of the transanal excision.

BACKGROUND: Peritoneal entry (PE) during transanal endoscopic microsurgery (TEM) for tumors of the upper rectum is not an uncommon complication. The suture line of the rectal defect performed for PE is not devoid of leaks. Diagnostic laparoscopy after PE enables visualization and testing of the suture line. Here, we report the outcome of patients undergoing laparoscopy for PE following TEM. METHODS: Data pertaining to patients undergoing laparoscopy for PE following TEM between 2004 and 2013 were retrospectively collected. RESULTS: One hundred and forty-one TEM procedures were performed, and 19 (13 %) with PE were included. The mean age was 68.1 ± 10.6 years, mean distance from the anal verge 12.5 ± 2 cm, and mean tumor size 2 cm. Lesions were located in the lateral wall (n = 14), anteriorly (n = 4), and posteriorly (n = 1). Indications for TEM were: adenoma (n = 13), indeterminate margins after polypectomy (n = 4, a submucosal lesion (n = 1), and a T1N0 adenocarcinoma (n = 1). In all patients, the rectal wall defect was closed primarily. Twelve patients underwent additional laparoscopy and suture line leak testing. In one patient, a small leak was detected which was repaired laparoscopically. In another, a hematoma of the suture line was observed and a drain was left in place. The mean operative time was 109 min (range 80-135 min) for TEM and 33 min (range 22-45 min) for laparoscopy. A diverting ileostomy was fashioned in one patient on postoperative day 3 after TEM without laparoscopy. No other major complications were observed. CONCLUSIONS: Laparoscopy after PE during TEM permits visualization and testing of the suture line. It is not associated with increased morbidity, and it may increase the safety of TEM.

The Great Mimicker Gets Caught: A Rare Case of Syphilis in the Gastrointestinal Tract.

Syphilis is a sexually transmitted disease that impacts multiple organ systems and can mimic various diseases and is an extremely rare cause of proctitis in men who have sex with men and transgender females. We present a case of a 49-year-old transgender female with a medical history significant for diabetes mellitus and hyperlipidemia who presented to the emergency department with dull abdominal pain in the left upper and lower quadrants for two days. She had non-bloody, nonbilious emesis, 10-pound weight loss over 1 month, and constipation for 2 weeks. Laboratory results showed a cholestatic pattern. Computed tomography of the abdomen showed rectal wall thickening, multiple enlarged perirectal adenopathy, and mild inflammatory infiltration around the rectum suggesting superimposed proctitis. On colonoscopy, a possible rectal mass or severe proctitis with near complete obstruction was seen with initial pathology concerning for lymphoma or a rare type of colitis. The patient was empirically started on ceftriaxone and doxycycline leading to improvement in inflammation. Special stains requested were positive for Treponema pallidum confirming the diagnosis of syphilitic proctitis and highly suggestive syphilitic hepatitis. Few cases of syphilitic proctitis imitating rectal malignancy and syphilitic hepatitis have been reported. Syphilis requires exclusion as well as confirmation of spirochetes for high-risk populations with special staining. It is important to diagnose syphilis in special populations that are at high risk of contraction.

Metastatic Squamous Cell Carcinoma of the Lung Disclosed From Constipation Workup.

A palpable rectal mass associated with gastrointestinal (GI) symptoms immediately raises concern for colorectal cancer, but rarely can represent distant metastatic disease. The incidence of symptomatic colorectal metastasis from a primary lung cancer without any pulmonary symptom is extremely rare. We report a rare case of constipation as the presenting symptom in a patient ultimately found to have metastatic squamous cell carcinoma of the lung. A rectal mass was readily palpable on examination, illustrating the importance of digital rectal examination. In addition, GI clinicians should maintain a high index of suspicion when evaluating patients at risk of non-GI malignancies.

A Rare Case of Primary Extra-Nodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue (MALT) in the Rectum.

Mucosa-associated lymphoid tissue (MALT) is a unique clinical condition that can manifest in different anatomic locations. In the gastrointestinal tract, it is typically seen in the stomach but is less commonly found in other sites. There have been a few cases in the literature in which primary MALT lymphoma is found in the rectum. We describe a case of a 63-year-old male who presented with rectal pain and bleeding. Colonoscopy revealed a rectal mass, which was excised with a trans-anal approach. Histopathological examination of the biopsy specimen was significant for MALT lymphoma. Therefore, the patient underwent radiation therapy followed by repeat colonoscopies to monitor disease recurrence.

A Rare Sigmoid-Colon Schwannoma in a Premenopausal Woman: A Case Report.

Background: Schwannomas of the gastrointestinal tract are a rare type of spindle cell tumor of peripheral nerve. Commonly, schwannomas are discovered incidentally, as they are usually asymptomatic. Case: 46-year-old female patient, suffering from secondary amenorrhea and nonspecific intermittent pelvic pain associated with constipation. During gynecological visit an ultrasonographic systematic transvaginal examination was performed. At the sigmoid-rectal level an intraluminal solid mass was described and an urgent colonoscopy was prescribed. Endoscopic submucosal dissection was performed with en-bloc resection. On immunohistochemical analysis, S100 was strongly positive in tumor cells. Finally, a benign schwannoma of the sigmoid colon was diagnosed. Conclusion: Our case highlights the importance of an adequate transvaginal pelvic examination with the evaluation of all pelvic organs. It could be challenging to make diagnosis in an early stage on asymptomatic patients.

Systemic cytomegalovirus masquerading as a colorectal mass in a patient with undiagnosed HIV/AIDS.

Introduction: Cytomegalovirus (CMV) infection is common among patients with human immunodeficiency virus (HIV) infection. Gastrointestinal (GI) involvement with tumor like lesion is a rare presentation. Our patient presented with rectal pain and findings concerning for malignancy. Subsequently our patient was diagnosed with acquired immunodeficiency syndrome (AIDS), CMV viremia and CMV proctitis. Case: A 37-year-old man who reported having sex with men presented with severe proctalgia and hematochezia. Imaging showed irregular rectal wall thickening concerning for malignancy. Sigmoidoscopy revealed a circumferential necrotic lesion suspicious for malignancy. Surprisingly, biopsy showed a cytopathic effect compatible with CMV infection. In addition to testing positive for CMV, patient was newly diagnosed with HIV/AIDS, hepatitis C, syphilis, and gonorrhea. CMV infection was treated with ganciclovir, which resulted in a significant response. Ganciclovir was later replaced with valganciclovir. Valganciclovir was continued and antiretroviral therapy (ART) was started as an outpatient and with resolution of symptoms. Discussion: CMV infection is one of the most common opportunistic infections among patients with HIV infection. Several cases of CMV colitis were reported among immunocompromised patients. Our patient's presenting symptoms and direct visualization of rectal lesion were not only deceptive but also unique. As what looked like a rectal malignancy was later diagnosed as tissue invasive CMV by biopsy. Invasive CMV infection should be managed with ganciclovir. Conclusion: GI CMV as the initial presentation of HIV is rare. Moreover, CMV proctitis can masquerade as a rectal cancer and clinicians should be aware of this rare presentation of CMV.

A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review.

The constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and challenging condition with a poor prognosis. It results from biallelic mismatch repair gene mutations and leads to multiorgan cancers. Therefore, we report the first case of advanced juvenile rectal cancer related to CMMRD syndrome in the Gulf region. She is a 13-year-old female, born to non-consanguineous parents with a positive family history of malignancy, presented with an eight-month history of a retractable bulging anal mass associated with diarrhea mixed with blood and constitutional symptoms. She was cachectic with café au lait spots all over her body. Upon investigation, she was found to have invasive rectal adenocarcinoma. The case was started on neoadjuvant chemoradiotherapy in addition to genetic testing which showed a homozygous pathogenic variant in PMS2, indicating CMMRD syndrome. The patient underwent pre-operative post-neoadjuvant reassessment followed by laparoscopic total proctocolectomy with ileal J-pouch creation and ileoanal anastomosis with temporary diverting loop ileostomy which later on was reversed with no complications or recurrence. The family declined to continue the adjuvant therapy but accepted the surveillance programs and genetic testing. Unusual or late presentation secondary to a very rare syndrome like CMMRD is a major challenge to clinicians, hence a high index of suspicion and proper utilization of genetics programs might be the best available solutions.

Rectal Invasion by Metastatic Prostate Adenocarcinoma.

In men, prostate cancer is the second most diagnosed cancer worldwide. Typical sites for metastasis include bone, lung, and liver. Prostate cancer with gastrointestinal involvement, particularly rectal, has been rarely reported in the literature. As patients with prostate cancer with rectal invasion may present with symptoms similar to those of other gastrointestinal pathologies, such as anal fissures and rectal carcinoma itself, misdiagnosis and delays in care can result. Direct visualization of the rectum via endoscopy, along with biopsy, allows clinicians to make an accurate and timely diagnosis in patients with prostate cancer with rectal involvement, which in turn leads to broader available treatment options.

Prostate Cancer Presenting With an Unusual Presentation of Rectal Pain and Bleeding.

We report an atypical case of prostate cancer with rectal involvement presenting with gastrointestinal symptoms predominately and a rectal mass. A 51-year-old male patient came to the hospital with abdominal pain and rectal bleeding. Imaging revealed prostate enlargement, perirectal lymphadenopathy, and multiple hepatic and pulmonary nodules. The patient also had an elevated prostate-specific antigen (PSA) of 502 ng/mL (against normal range 0.6-0.7 ng/mL). Biopsies were performed on tissue samples taken from the rectum and prostate gland, which confirmed the diagnosis of prostate adenocarcinoma. The lack of urinary symptoms and close clinical similarity to colorectal cancer presented a diagnostic challenge for us. Familiarity with this specific presentation of prostate cancer is necessary to avoid misdiagnoses and guide correct treatment.

Juvenile Retention Polyp in a Teenager.

The proper management of a prolapsed rectal mass in a child or teenager is challenging. Given that the underlying etiology of a prolapsed rectal mass in this population is not always immediately clear, interdisciplinary assessment is often required. Juvenile polyps, more commonly presenting with bleeding than a prolapsed mass, can mimic the appearance of both hemorrhoids and the rectum itself - making a purely clinical diagnosis difficult. Presented here is a case of a prolapsed colorectal polyp in a teenage boy, who underwent manual reduction of the mass, followed by colonoscopy and endoscopic ligation. Further histological evaluation revealed it to be a juvenile retention polyp. Despite the rarity of polyp prolapse as a presenting symptom, this case underscores the importance of considering colonic polyps as the etiology of a prolapsed anorectal mass in a teenager.

A Case of Infantile Perianal Pyramidal Protrusion Masquerading As Imperforate Anus at Birth.

Infantile perianal pyramidal protrusion (IPPP) is an uncommon and underreported benign cutaneous lesion characterized by a protrusion from the anal orifice. It is also believed to be often mistaken for other conditions. The unawareness of this lesion may be responsible for underreporting and an excessive concern both in providers and in parents. Timely diagnosis and reassurance need to be emphasized in the provider community. We report an interesting case of IPPP on the first day of life, which was erroneously diagnosed as imperforate anus at her delivery.

Herpes Simplex Virus Proctitis Masquerading as Rectal Cancer.

Herpes simplex virus (HSV) is the leading cause of proctitis in HIV-infected individuals. However, no cases of rectal masses secondary to HSV infection have been reported to date. Herein, we present the case of a 45-year-old man with HIV infection who developed rectal pain and bleeding, along with dysuria and voiding difficulty. Colonoscopy revealed proctitis and a rectal mass with features concerning for rectal cancer. Histologic sections of the rectal mass biopsy demonstrated colorectal mucosa with viral cytopathic changes, ulceration, granulation tissue, marked inflammatory infiltrate, and fibrinopurulent exudate. Immunohistochemistry for herpes simplex virus-1 was positive in epithelial cells demonstrating a viral cytopathic effect. The patient was treated with valacyclovir for 3 weeks, which led to complete resolution of his symptoms. Follow-up sigmoidoscopy at 6 months did not show any masses. Our case illustrates the importance of considering HSV in the differential diagnosis of rectal masses. We advocate the routine use of viral immunohistochemistry for the evaluation of rectal tumors, especially in patients with clinical manifestations and endoscopic findings consistent with proctitis.

An unusual rectal duplication cyst.

BACKGROUND: Rectal duplication cysts are rare gastrointestinal congenital duplicate cysts with various clinical presentations that require different management. CASE PRESENTATION: We present a case of a lady with a double rectal duplicate cyst which was found incidentally on a follow-up CT abdomen and pelvis scan. The patient initially had a mucocele excision, and following that, she had a non-contrast CT abdomen and pelvis to investigate post-operative pain. The CT scan revealed a single rectal duplicate cyst. She had a posterior approach excision to have it removed, and only intra-operatively, she was found to have a double rectal duplicate cyst. She had them both removed via a midline incision running from the perineal pigmentation and extending until the coccyx. She had another follow-up CT which showed complete excision of the cysts. CONCLUSIONS: After a thorough review of the literature regarding rectal cysts, there was no mention of a double rectal duplicate cyst. The purpose of this paper is to point out the various potential presentations of a rectal cyst as well as the idea that a double cyst is managed effectively in a similar way as the single one.

The bottom line: MRI and CT findings of unusual rectal and perirectal pathology.

Although common nonspecific symptoms (i.e., rectal bleeding, pelvic pressure, and change in bowel habits) are associated with rectal cancer, occasionally these are related to a different underlying disease. Over the past few years, considerable progress has been made in imaging of the rectum. Specifically, new magnetic resonance techniques and capabilities provide impressive high-resolution assessment of the rectal wall and enable evaluation and characterization of the perirectal tissues. This paper reviews imaging findings of uncommon causes of rectal and perirectal pathology that may be clinically confounded with rectal cancer. Radiologists need to be aware of uncommon pathologies in this region in order to facilitate optimal management decisions.

Infiltrating, Quasi-Cancerous Rectal Lesions: Unique Manifestation of Visceral Basidiobolus ranarum.

OBJECTIVE: To report the finding of transmural rectal involvement, in four children with lesions which seemed to be neoplastic in appearance and progression. METHODS: The case records of four children presenting with rectal involvement by the fungus Basidiobolus ranarum, were retrospectively analyzed for clinical presentation, hematological and radiological investigations, the procurement of histopathological material for diagnosis and the findings thereof, the treatment of these patients and the follow-up. RESULTS: The four children presented with non-specific symptoms of fever, loss of weight and appetite, constipation and bleeding per rectum. One presented with excoriation and ulceration of the perineum and perianal skin. Examination generally unremarkable, however, showed the rectum extensively involved by a lesion which narrowed the lumen. Hematological investigations showed leukocytosis with eosinophilia and raised levels of acute phase reactants like ESR, platelets, and C-reactive proteins. Ultrasonogram (USG) and CT scan confirmed the lesion to be involving all layers of the rectum and compromising the rectal lumen. The right colon was also involved in one patient. One underwent a colonoscopy and biopsy which proved inconclusive. All four underwent a Tru-cut biopsy which was diagnostic. Histopathologically the disease was based in Basidiobolus ranarum, a fungus which is emerging as a cause of visceral abdominal involvement. CONCLUSIONS: Lesions involving the rectum, and appearing to be neoplastic may be caused by the fungus Basidiobolus ranarum. The symptomatology and presentation may be non-specific. High levels of eosinophils in the blood, a raised ESR, and C-reactive protein may be useful pointers to the diagnosis. USG and CT scans localize the lesions and also provide a guide for biopsies. The characteristic histopathological findings are diagnostic and based on these, treatment with Itroconazole / Voriconazole is beneficial.

Transanal minimally invasive surgery for benign and malignant rectal neoplasia.

BACKGROUND: Transanal minimally invasive surgery (TAMIS), an alternative technique to transanal endoscopic microsurgery, was developed in 2009. Herein, we describe our initial experience using TAMIS for benign and malignant rectal neoplasia. METHODS: This is an institutional review board approved, retrospective case series report. RESULTS: TAMIS was performed in 32 patients for rectal adenoma (13), adenocarcinoma (16), and carcinoid (3). There were 14 women, with mean age 62 ± 15 years and body mass index 28 ± 5 kg/m(2). Lesion size ranged from .5 to 8.5 cm, distance from the dentate line 1 to 11 cm, and circumference of the lesion 10% to 100%. The mean operative time was 123 ± 62 minutes. Mean hospital length of stay was 2.5 ± 2 days. Complications included urinary tract infection (1), Clostridium difficile diarrhea (1), atrial fibrillation (1), rectal stenosis (1), and rectal bleeding (1). CONCLUSION: TAMIS using a disposable transanal access platform is a safe and effective method to remove rectal lesions in this case series.

Solitary rectal cap polyp: Case report and review of the literature.

Rectal bleeding combined with the presence of a rectal mass has been traditionally associated with the presence of malignant disease. Cap polyposis is a relatively young and still undefined rare entity which mainly involves the rectosigmoid. It is characterized by the presence of inflammatory polyps. In this case report, we present a patient who was diagnosed with a solitary cap polyp of the rectum during the investigation of a bleeding rectal mass. The patient's age and the absence of family history were not in favor of malignancy, despite the strong initial clinical impression. After confirmation of the diagnosis, the patient underwent a snare excision and remains asymptomatic. Cap polyposis, although rare, should be suspected and, when diagnosed, should be treated according to location, number of polyps and severity of symptoms.