Retrorectal Cystic Hamartoma Research Articles

Adenocarcinoma on retrorectal cystic hamartoma: An illustrative image for a very rare diagnosis

Retrorectal cystic hamartoma (also known as tailgut cyst) is a congenital lesion that originates from debris from the embryonic caudal intestine. Incidentally diagnosed in more than half of cases, the treatment of choice is surgical resection. It is a very rare pathology whose oncological transformation constitutes a true pathological rarity.

Diagnosis and treatment of retrorectal cystic hamartoma: clinical case

Background. Retrorectal tumors are a rare group of tumors that can be benign or malignant in origin; in most cases, they are asymptomatic. They mainly arise in the presacral space, which is limited by Waldeyer’s fascia posteriorly, the rectal fascia proper anteriorly, the ureters and lateral ligaments of the rectum laterally, the levator ani muscles and coccyx inferiorly, and the transition of the pelvic peritoneum between the second and third sacral segments superiorly. Magnetic resonance imaging (MRI) is crucial for diagnosis and surgical planning. Most retrorectal tumors require surgical treatment without preoperative biopsy. Here, we present a case of a retrorectal cystic hamartoma that was treated with surgery.Clinical case. Patient N., 45 years old, presented with suspected pelvic malformation. The patient reported experiencing pain in the sacrum area since May 2023, with no history of trauma. She sought medical help at a local polyclinic, where an ultrasound of the pelvic organs revealed a pelvic mass. The patient was then referred to an oncologist at the Multidisciplinary Clinical Medical Center “Medical City”. Physical examination showed no specific features, except upon rectal examination, where a non-displaced tumor measuring up to 2 cm was palpated along the posterior rectal wall. MRI of the pelvic organs confirmed the presence of a mass behind the lower ampullary rectum. Surgical treatment was subsequently performed, and the diagnosis of teratoma was confirmed through morphological and immunohistochemical studies.Conclusion. Early comprehensive diagnostics and an experienced surgical team are key factors for successful treatment of patients with retrorectal tumors.

Tailgut Duplication Cyst: A Rare Cause of Refractory Low Back Pain in a Teenage Girl - A Case Report

Tailgut cyst, or retrorectal cystic hamartoma, is a rare congenital malformation originating from retrorectal or presacral space. It stands as an embryonic vestige of the hindgut’s postnatal component. Owing to its rarity, undiagnosed asymptomatic cases and diverse array of clinical presentations that potentially mimic other diseases, correct diagnosis is often delayed. It can present at any age but is most prevalent in middle-aged females, often remaining asymptomatic and eluding detection during digital rectal examinations. Postoperative histopathological examination is the definitive diagnostic method. This case report highlights an unusual presentation of a tailgut cyst as an underlying etiology for lower back pain in a 17-year-old female patient, emphasizing the importance of considering it as a potential differential diagnosis for intractable lower back pain, especially in young females. Timely recognition of this condition is pivotal for precise management and better patient outcomes.

Retrorectal tailgut cyst: a case report

Background: Tailgut cysts are rare congenital malformation lesions, also known as retrorectal cystic hamartoma is defined as a remnant part of postnatal hindgut. Because of their rare incidence and nonspecific presentation, tailgut cysts are misdiagnosed. The symptoms depend on the size and the location of the tumor. Surgical intervention is always required because of the complications of these tumors. Case Presentation: We report a 40-year-old female patient with an uneventful past surgical and medical history. Presented to the outpatient clinic with vague abdominal pain and constipation for 1 and a half years. The rectal digital examination, computed tomography abdomen, and pelvis with contrast and magnetic resonance imaging pelvis indicated the presence of the tailgut cyst, intraoperative we found two retrorectal cysts, and complete surgical resection using a posterior approach was performed. The histopathology examination showed a 5 * 5 cm cyst filled with putty-like material, defined as an epidermal inclusion cyst. The patient recovered well and was discharged 6 days after surgery. Out patient clinic follow up was uneventful and the patient was discharged from the surgical side. Conclusion: Tailgut cysts originate from the postanal gut of the embryo. These cysts are typically asymptomatic, surgical removal via a posterior or anterior approach is recommended once these lesions are detected due to the possibility of malignant development, infection, retrorectal abscesses formation, and rarely anal fistulas. A variety of surgical techniques can be employed, and the course of treatment can be customized to fit the anatomy and suspected lesion diagnosis of each patient.

Squamous cell carcinoma in a retrorectal cystic hamartoma

Retrorectal cystic hamartomas (HCR) (“tailgut cyst” in English-language literature) are congenital cystic tumors derived from vestiges of the hindgut. Its incidence is low, being more frequent in adult women. They are variable in size, uni or multiloculated. They can be lined with several types of epithelia (squamous, transitional, mucinous,...) in a same cyst and can contain mucus. Lesions usually present during adulthood due to pain, discomfort, rectal bleeding, infection, or malignant transformation. The incidence of malignancy is low, being adenocarcinoma and neuroendocrine the most frequent tumors associated to HCR. We present a case of HCR associated with squamous cell carcinoma and discuss aspects of the treatment.

Retrorectal cystic hamartoma: diagnosis with CT scan

Retrorectal cystic hamartoma or "tailgut cyst" is a rare entity, resulting from embryonic remnants of the primary posterior intestine or Tailgut. Imaging essentially in slices allowed the diagnosis of the site and the anatomopathological approach of the lesion confirmed by the histological analysis of the operative parts. The main differential diagnoses are retrorectal teratoma, retrorectal epidermal cyst and rectal duplication. The main complications are recurrence, chronic inflammation leading to anal margin fistulas and carcinomatous degeneration. We report the case of a 40 year old female patient, with no particular pathological history, who consulted for pelvic heaviness

Retro-rectal adenocarcinoma 7 years following excision of a tailgut-cyst, case report and proposals to prevent recurrence.

Summary: Retro-rectal cystic hamartoma or tailgut cyst is a benign tumor of congenital origin, which has a recurring potential and an enclosed malignancy. - Case of a 59-year-old patient with a potentially recurrent tumor of 14cm that exceeded the limits of the retro rectal region and progressed downwards to the right anal region and retro coccygeal, its excision, « supposed » complete and confirmed by CT scan post operatively, was performed via 3 ways. Relapse had occurred as “adenocarcinoma” 7 years later, probably from some tumor cells, and this recurrence confirmed the insufficiency of excising the tumor alone. In our study the databases of Pub Med, Google Scholar, Scopus, were consulted, the research was: Tailgut Cyst, Retrorectal tumors, and malignancy; we found 399 cases of which some were solitary and others published through series. The tumor would therefore not be as rare as we previously assumed. - We present an analysis trying to unveil recurrences and their malignant transformations in adults. We also propose preventive measures and possible treatments during and after surgery.

Retrorectal cystic hamartoma with extrapelvic extension

Retrorectal cystic hamartoma with extrapelvic extension

Sonological Appearance of a Tailgut Duplication Cyst (Retrorectal Cystic Hamartoma) in a Neonate.

Sonological Appearance of a Tailgut Duplication Cyst (Retrorectal Cystic Hamartoma) in a Neonate.

Retrorectal Cystic Hamartoma with Malignant Transformation

Retrorectal cystic hamartomas are rare congenital lesions that can undergo malignant transformation, and adenocarcinoma is the most frequently described histological type. The authors describe a case of a 53-year-old female patient with a localized well-differentiated adenocarcinoma that developed in a retrorectal cystic hamartoma. The patient was submitted to surgery (a Kraske procedure), with an R1 resection, followed by adjuvant radio-chemotherapy. After 23 months of follow up, the patient remains free from disease recurrence. Given the rarity of this entity, this case allows us to reflect on the differential diagnosis, therapeutic approach and patients’ follow-up.

Retrorectal Cystic Hamartoma (Tail Gut Cyst): An Institutional Experience

Abstract Objectives Tailgut cyst (TGC) is a rare congenital benign cystic lesion arising from a remnant of the embryonic postnatal hindgut. TGCs are typically multinodular, uncapsulated, but usually well circumscribed. TGCs are generally rare in adults and the majority of the lesions are benign. Malignant transformation is rare and malignancies reported include adenocarcinomas and neuroendocrine tumors. Methods A retrospective database search was conducted and coded as “tailgut cyst or retrorectal cystic hamartoma” to identify cases of possible TGC between January 2005 and January 2019. The search utilized the pathology files of Yale-New Haven Hospital using CoPath laboratory information system. Clinical and surgical data were gathered from the surgical pathology report and surgical operative note when available. Results A total of 13 cases (10 women) were identified with a median age of 51 years. All the specimens were obtained by surgical excision. Most of the cases were excised from the presacreal area (11 cases), and two cases were excised from the retrorectal area. The two cases resected from the retrorectal area had a malignant component. The first case was a 33-year-old female who had a 1.5-cm tailgut cyst that showed a multifocal neuroendocrine tumor (carcinoid); the resection margin was also positive. The second case was a 59-year-old female who had a tailgut cyst that showed mucinous adenocarcinoma; the resection margin was also positive. Conclusion Diagnosis of tailgut is sometimes challenging. Possible differential diagnoses in this location include teratoma, dermoid cyst, anterior sacral meningocele, and presacral abscess. Imaging is an important component of the initial workup. Surgical resection is the treatment of choice when the cyst grows in size and if a solid component is present. Exclusion of other benign entities and malignant transformation/component on histological examination is crucial.

Diagnosis of Tailgut Cyst in Gynecologic Patients: Systematic Review of the Literature

Tailgut cysts, also called retrorectal cystic hamartomas, are rare findings that usually occur in the retrorectal space. The incidence is estimated to be about 1 in 40,000.The aim of our review is to evaluate the potential pitfalls in the diagnosis of this rare pathologic condition, according to diagnostic procedures for this rare but misleading and subtle entity.We conducted a Medline literature review of the English literature discussing tailgut cysts in female patients. We concentrated on imaging technology used for diagnosis in gynecologic patients. For our search, we used the key words “tailgut cyst”, “retrorectal cystic hamartoma”, “gynecology”, focusing on clinical presentation, imaging technology used for diagnosis, presence of malignancy, and misdiagnosis with more common gynecologic pathology.Our search revealed 143 articles during the years 1975–2016 and, of these, 30 articles describing 91 female patients were considered.We concluded that tailgut cyst should be included in the differential diagnosis of pelvic lesions in gynecologic patients.

Retrorectal cystic hamartoma: A case report

Introduction: Retrorectal hamartomas are congenital lesions that typically present themselves as pre-sacred tumor masses. Clinical manifestations are light and highly variable at presentation time, often leading to diagnostic difficulties and surgical failure. Case Report: A case of 46-year-old female who is referred to neurosurgery by her medical assistant with a few months history of paresthesia and decreased left lower limb muscle strength and more recently symptoms of gastrointestinal disorders (constipation, tenesmus and feeling of false wills). Imaging studies revealed a pre-sacral tumor with suspicion of nerve dependence on S4 and cystic nature. She underwent partial resection of the capsule of the lesion and aspiration of its contents by multidisciplinary team abdominal approach (general surgery/neurosurgery). The anatomopathological examination revealed a retrorectal cystic hamartoma. During follow-up the patient again developed tenesmus, false desires and the paresthesias of the left leg reappeared. The imaging tests confirmed a recurrence of the retrorectal hamartoma. The patient was again operated for block excision, this time by posterior approach. Conclusion: This case highlights the importance of retrorectal hamartomas as a differential diagnosis of presacral masses and it shows the difficulty in obtaining its diagnosis and treatment.

Unusual Case of Voiding Symptoms and Constipation: Retrorectal Cystic Hamartoma

Retrorectal cystic hamartoma (tailgut cyst) is a rare congenital lesion. This study is one of the few reports of this rare clinical entity causing irritative voiding symptoms and constipation in a male patient. Although most cases are asymptomatic, patients may present with symptoms resulting from local mass effect or complication.

Tailgut cyst presenting as subcutaneous swelling along with true tail: A rare identity and review of literature

Tailgut cyst (retrorectal cystic hamartoma) is a rare known entity that has been described in the surgical and pathological literature. There may be delay in diagnosis and treatment owing to rarity and absence of definite features. We experienced an unusual case of retrorectal cystic hamartoma presenting as subcutaneous swelling and infected sinus along with true tail in sacrococcygeal region.

Tailgut Cyst: a Case Report in a Female Neonate

Tailgut cyst, or retrorectal cystic hamartoma, is a rare congenital lesion found in the presacral space. The lesion has been infrequently reported in the literature. We report a 16 days female neonate presented with urine retention. the retrorectal or presacral space (4) and rarely in the perirenal area (2,3,5), the subcutaneous tissue in the anorectal region (6) and more rarely in the prerectal location. Microscopically, the tailgut cyst is characterized by the presence of a cysts lined with varying types of epithelium; columnar, mucin secreting epithelium predominates, while other areas of squamous and transitional epithelium often coexist (7). The differential diagnosis of cystic masses in this space includes sacrococcygeal teratoma, dermoid cysts and other complex ovarian masses, rectal duplication cysts, anterior meningoceles, cystic lymphangiomas and abscesses (8,9). There is an approximately 3:1 female preponderance of cases reported (4). Uncomplicated lesions are typically asymptomatic, and patients usually come to medical attention when the cyst becomes infected or when the lesion is incidentally discovered either radiologically or during physical examination. Perineal pain, pain with defecation, painless rectal bleeding, urinary frequency, and change in stool caliber have been reported. A few rare cases of malignant change associated with a tailgut cyst have been reported, but none in children to our knowledge (4,10,11). Few cases have been reported in children. The largest series by Hjermstad and Helwig (4) at the Armed Forces Institute of Pathology describes 53 cases of the entity collected during a 35-year period. Five cases demonstrating the CT and sonographic findings of tailgut cysts were described by Johnson et al. (12) at the Armed Forces Institute of Pathology. There are only a handful of reports of the MR findings of this entity in adults and only a few cases in the pediatric population (13).

Retrorectal cystic hamartoma (Tailgut cyst)

CASE SUMMARY A 30-year-old asymptomatic female presented for IUD placement 5 months after an uncomplicated C-section. Ultrasound confirmed correct IUD placement but revealed a “complex pelvic mass” in the posterior cul-de-sac. Rectovaginal exam revealed a nontender soft tissue mass, 6-7cm in size, just to the right of the rectum and vaginal apex. Pelvic MRI showed a 7 cm mass deep in the right hemipelvis, felt to possibly represent an endometrioma, which remained unchanged on a 3-month follow-up study. Colonoscopy revealed extrinsic bowel compression but no mucosal changes. Due to recent pelvic surgery, the imaging characteristics of the mass, and the normal appearance of both ovaries, a gossypiboma was considered. Exploratory laparotomy revealed a right perirectal retroperitoneal mass containing copious amounts of keratin. The mass was excised and the patient had an uneventful recovery. IMAGING FINDINGS The initial and follow-up pelvic MR images demonstrated a well-defined, non-enhancing, ovoid lesion within the cul-de-sac which exerted mass effect on the uterus (Figure 1) and was distinct from both ovaries. The lesion exhibited high T2 and low T1 signal as well as several areas of linear low T2 signal internally with a somewhat “whorled” appearance (Figure 2). In addition, there was no signal loss on fat saturated images (Figure 3). Given these findings and the patient’s clinical history, the differential diagnosis included gossypiboma, retrorectal cystic hamartoma, epidermal inclusion cyst and endometrioma.

Successful removal of a massive retrorectal cystic hamartoma (tailgut cyst) using a combined paracoccygeal and myocutaneous gluteal flap approach

We report on a surgical en bloc excision (using a combined paracoccygeal and myocutaneous gluteal flap approach) of a large retrorectal cystic hamartoma (tailgut cyst). A 65-year-old male was referred with a 2-year history of a painless swelling in his right buttock and thigh. The patient subsequently underwent magnetic resonance imaging (MRI), revealing a large trilobular cystic lesion arising from the retrorectal space (with no connection to the rectum), extending laterally into the right ischioanal fossa, and continuing into the right gluteus maximus muscle and posterior compartment of the right thigh (Fig. 1a). Surgical excision of the lesion without biopsy (to avoid seeding) was performed by the two senior authors (consultant colorectal/plastic surgeons). The patient was placed in the prone jack-knife position under general anesthesia. Initial dissection commenced in the posterior thigh to remove the caudal portion of the cyst, and then the incision was extended cranially to raise a right sided myocutaneous gluteal flap, based on the inferior gluteal artery pedicle (Fig. 1b). This allowed excellent access to the cystic lesion within the gluteus maximus muscle to facilitate removal as a whole en bloc specimen. The incision was then extended in the right paracoccygeal plane to remove the most proximal portion of the cystic lesion lying in the right ischioanal space and retrorectal space, undertaken with a finger in the rectum helping to increase the cystic lesion into the wound. The rectum was not breached during the dissection, and the cystic lesion was removed in its entirety. The cystic lesion was observed (as per the MRI findings) to consist of three interconnecting cystic chambers with a very thin wall, 30 cm in length in the largest dimension. Histological findings were consistent with the diagnosis of a retrorectal cystic hamartoma (tailgut cyst). The patient made an uneventful recovery in the early postoperative period, but developed some erythema and discharge from the wound at approximately a month after surgery which settled with conservative measures. At 3 months, he was back to his normal activities with no further wound problems. Retrorectal cystic hamartomas (also known as tailgut cysts) are rare congenital lesions thought to arise from the remnants of the embryonic post-anal primitive gut in utero. More common in females, the mean age of presentation is in the fifth decade [1]. Malignant change (up to 13 % in one series) [2] has been reported, and on this basis, surgical excision is advised, even if the cyst is not causing any symptoms [3]. Recurrences after surgical excision have been reported [1, 2, 4], but it is unclear whether or not these were related to incomplete excision at the initial surgery. Retrorectal cystic hamartomas are usually small, and in the largest series reported, the average size reported was 3.9 cm [5]. The maximum cyst size in the two largest case series was 25 cm and 15 cm. To our knowledge, we describe here the successful removal of the largest retrorectal cystic hamartoma reported in the literature. A variety of surgical strategies have been described for the excision of retrorectal cystic hamartomas tailored to the size and extension of the lesion, which include abdominal approaches for cysts extending into the pelvis and a number of posterior approaches [3]. Due to the unusual anatomical J. Stallard G. Bourke Department of Plastic, Reconstructive and Hand Surgery, The General Infirmary at Leeds, Leeds, UK

Surgical management of a retro-rectal cystic hamartoma (tailgut cyst) using a trans-rectal approach: a case report and review of the literature

IntroductionRetro-rectal cystic hamartoma (tailgut cyst) is a rare congenital developmental lesion arising from post-natal primitive gut remnants in the retro-rectal space. The rarity of the lesion and its anatomical position usually leads to difficulty in diagnosis and surgical management. Complete surgical resection remains the cornerstone of treatment. A dozen or so surgical approaches have been described in the literature to date to make the operation as simple as possible, but the trans-rectal access route is extremely rarely reported and not well described. Here, we present a case that demonstrates the trans-rectal approach to a retro-rectal tumor is a feasible option in terms of surgical radicality, minimal invasiveness and safety for carefully selected patients with this rare type of retro-rectal cystic lesion.Case presentationA 29-year-old Caucasian woman was referred to our institution due to perineal pain extending to the right inguinal region. Her symptoms had been present for the last two months. She was first examined at her regional hospital for a suspected ruptured ovarian cyst; however, after consultation with a gynecologist and a computed tomography scan of her pelvis, a tumor in the retro-rectal space was discovered. Our patient was admitted to our hospital and when a pelvic magnetic resonance imaging study confirmed the diagnosis of the retro-rectal cystic formation, a complete extirpation of retro-rectal tumor fixed to the coccyx using trans-rectal approach was performed. The final pathological diagnosis was retro-rectal cystic hamartoma (tailgut cyst) with no evidence of malignancy. Her post-operative course was uneventful, and at four months after surgery our patient is symptom free with no evidence of recurrent or residual disease.ConclusionsTrans-rectal excision is feasible in terms of surgical radicality and is a simple to perform, minimally invasive and safe option, providing complete recovery for carefully selected patients with retro-rectal cystic hamartoma treated operatively.

Retrorectal cystic hamartoma: this cyst has a “tail” to tell

A 50-year-old man presented with a 6-week history of lumbosacral back pain and altered bowel habit without hematochezia. Abdominopelvic computed tomography (CT) revealed a 5-cm rectal mass with obliteration of the fat plane between the mass and the tip of the coccyx that was interpreted as representing a neoplasm(● Fig.1a). Followinganormal digital rectal exam, colonoscopy revealed a subtle posterior mid-rectal wall indentation, suspected to represent either an intramural process or extrinsic compression. The overlying mucosa appeared normal (● Fig.1b). A curvilinear endoscopic ultrasound examination excluded a subepithelial lesion, instead revealing a 3.4× 3.3cm multiloculated cystic mass extrinsic but adjacent to the rectal wall with no evidence of lymphadenopathy. This lesion was located distal and posterior to the inferior border of the prostate gland and comprised approximately 15 loculi. Each locule was thin-walled in the absence of septations. Many of the loculi contained intracystic echogenic material (● Video1). Surgical resection of the retrorectal cystic mass mandated posterior dissection of the coccyx laterally. Surgical pathology confirmed a multiloculated presacral cystic mass measuring 6.0× 4.3×3.2cm (● Fig.1c). The cystic loculi were lined by squamous epithelium, transitional type epithelium, and columnar epithelium with focal goblet cells and no evidence of malignancy (● Fig.1d). The findings were diagnostic of cystic hamartoma (tailgut cyst). Until adverse event data for lower gastrointestinal endoscopic ultrasound (EUS) become available, the current recommendation is to avoid fine-needle aspiration (FNA) of perirectal cysts due to concerns regarding abscess formation even with prophylactic antibiotic use, as highlighted in one patient who subsequently required percutaneous drainage [1]. Complete intact surgical excision is advised to avoid the potential risk of needle-tract seeding, infection, and fistula formation [2].