Large retrorectal spindle cell sarcoma: A case report and brief review of the literature.

Large retrorectal tumors are rare and often a diagnostic and surgical challenge due to their anatomical location. We report the case of a 55-year-old patient with weight loss and changed bowel habits, where digital rectal examination revealed a retrorectal mass raising suspicion of a tumor. Magnetic resonance imaging (MRI) and computed tomography (CT) showed a large retrorectal tumor and histopathology after surgical resection showed undifferentiated spindle cell sarcoma. This tumor type has not been previously reported as the etiology of large retrorectal tumors. We discuss the implications of diagnostic imaging, especially MRI, in the approach to diagnosis and surgical treatment of retrorectal tumors with reference to the scientific literature and previously reported cases of retrorectal tumors.

Presacral Neuroendocrine Neoplasms: A Multi-site Review of Surgical Outcomes.

INTRODUCTION: Presacral neuroendocrine neoplasms (PNENs) are rare tumors, with limited data on management and outcomes. METHODS: A retrospective review of institutional medical records was conducted to identify all patients with PNENs between 2008 and 2022. Data collection included demographics, symptoms, imaging, surgical approaches, pathology, complications, and long-term outcomes. RESULTS: Twelve patients were identified; two-thirds were female, averaging 44.8 years of age, and, for the most part, presenting with back pain, constipation, and abdominal discomfort. Preoperative imaging included computed tomography scans and magnetic resonance images, with somatostatin receptor imaging and biopsies being common. Half of the patients had metastatic disease on presentation. Surgical approach varied, with anterior, posterior, and combined techniques used, often involving muscle transection and coccygectomy. Short-term complications affected one-quarter of patients. Pathologically, PNENs were mainly well-differentiated grade 2 tumors with positive synaptophysin and chromogranin A. Associated anomalies were common, with tail-gut cysts prevalent. Mean tumor diameter was 6.3 cm. Four patients received long-term adjuvant therapy. Disease progression necessitated additional interventions, including surgery and various chemotherapy regimens. Skeletal, liver, thyroid, lung, and pancreatic metastases occurred during follow-up, with no mortality reported. Kaplan-Meier analysis showed a 5-year local recurrence rate of 23.8%, disease progression rate of 14.3%, and de novo metastases rate of 30%. CONCLUSION: The study underscores the complex management of PNENs and emphasizes the need for multicenter research to better understand and manage these tumors. It provides valuable insights into surgical outcomes, recurrence rates, and overall survival, guiding future treatment strategies for PNEN patients.

Pediatric presacral tumors with intraspinal extension: a rare entity with diagnostic challenges.

The presacral space is a potential space located between the rectum and the lumbosacral spine. It contains various primitive germ cell types that serve as the origin for a range of tumors. Imaging is crucial in characterizing, assessing the extent of and evaluating the treatment response to these tumors. We report a series of six cases of pediatric presacral tumors with intraspinal extension, including an immature sacrococcygeal teratoma (Altman type II), a malignant sacrococcygeal teratoma (Altman type IV), a neuroblastoma, a rhabdomyosarcoma, a clear cell sarcoma and an Ewing's sarcoma of the ilium. These tumors can be broadly categorized as tumors of germ cell, neuroblastic, mesenchymal and osteogenic origin. Despite overlapping imaging features, a review of the existing literature and careful retrospective observation revealed several distinctive features that aid in the optimal characterization of tumors. These include the tumor's epicenter, the pattern and degree of bone involvement, the status of sacral foramina and neural elements, and internal tumor characteristics such as the presence of fat, calcification, hemorrhage and necrosis.

Neuroendocrine Tumor of Tailgut Cyst with Unexpected Metastases.

Neuroendocrine tumors (NETs) originate from the neuroendocrine cells, which are found in various organs. NETs occur frequently in the gastrointestinal tract. NETs arising from tailgut cysts are uncommon. We herein report an interesting case of metastatic tailgut cyst NET, which was firstly diagnosed as plasmacytoma.

Recurrent retrorectal tailgut cyst mimicking deep pelvic abscess: A diagnostic dilemma.

Tailgut cysts are congenital anomalies that are rare and arise from incompletely regressed primitive hindgut. These are more commonly found in women and are usually asymptomatic. When symptoms develop, these can present with pain, infection, hemorrhage, difficulty in defecation, and rarely malignant change. We report a middle-aged married woman who presented with deep-seated perineal pain for a couple of months, which increased during defecation and sexual intercourse. Although abdominal examination was unremarkable barring deep tenderness in the hypogastrium, rectal and vaginal examinations suggested a tender pelvic swelling. An abdominal ultrasonographic examination diagnosed a cystic swelling in the pelvis extending until the Levator ani muscles. Considering her symptoms, a pelvic abscess was diagnosed and transvaginal drainage was done. Due to persistence of symptoms and recurrence after a month, she was further investigated and was diagnosed to have a presacral benign cystic tumor based on CT and MRI scans of the pelvis. The lesion was completely excised through a combined abdomino-perineal approach and histopathological report suggested a benign tailgut cyst. That a cystic presacral swelling with features of inflammation can be confused with a deep pelvic abscess is hereby highlighted in this report. An MRI scan is diagnostic of these lesions. Failure to differentiate it from a pelvic abscess may result in drainage, which may be of concern if the lesion is malignant.

Retrorectal Tailgut Cyst: A Case Report.

Tailgut cysts, or retrorectal cystic hamartomas, are rare congenital abnormalities that develop when the embryologic tailgut fails to involute. They are found in the presacral space, which is an area with quite a complex anatomy. Tailgut cysts can be symptomatic due to their mass effect and can even result in complications, including malignancy. Because of their rarity and varied presentations, tailgut cysts are frequently misdiagnosed. CT scans and MRI are useful in the diagnosis of these retrorectal masses, and surgical resection is the definitive treatment. Multiple surgical approaches can be used, with the treatment tailored to suit each individual patient's anatomy and suspected lesion diagnosis.

Incidental Discovery of a Presacral Extradural Myxopapillary Ependymoma.

Ependymoma is a malignant central nervous system tumor arising from the lining of the ventricles or central canal of the spinal cord. Extradural spinal ependymomas arise from heterotopic ependymal cells or the coccygeal medullary vestige and are extremely infrequent. We present a rare case of presacral extradural ependymoma. Extradural ependymomas typically demonstrate an extraneural spread and, thus, surveillance of the entire central nervous system is not typically recommended. A radiograph of the chest, liver profile, and attention to palpable lymphadenopathy (especially inguinal) on physical examination are vital for surveillance. Obtaining an R0 resection is the most important prognostic factor in survival and local recurrence.

Presacral Tumor: Insights From a Decade's Experience of This Rare and Diverse Disease.

BACKGROUND: Presacral tumors are a group of rare and heterogeneous tumors that arise from the potential presacral space between the rectum and sacrum. The low occurrence and diverse origins make the diagnosis and treatment of these tumors a challenge. The aim of the study was to retrospectively review patient demographics and to identify advantages and disadvantages in the diagnosis and treatment of these tumors. METHODS: Retrospectively collected and reviewed data from patients who received treatment of presacral tumors at the First Affiliated Hospital of China Medical University between August 2009 and June 2019. RESULTS: The data from forty-four patients (33 females) with a median age of 50 years who were diagnosed with a presacral/retrorectal tumor were analyzed. The majority of tumors were congenital (61.4%) and benign tumors are more common (59.1%). The median age of patients with benign tumor was significantly higher than that of malignant tumor. The most common symptoms were sacrococcygeal/perianal pain (56.8%) and mass (36.4%), and 8 out of 9 patients having lower limb symptoms diagnosed with malignant tumor. The tumor detection rate of digital rectal examination was 75% and more than 90% of all patients underwent one or more radiology imaging exams for tumor diagnosis. Every patient had a biopsy result. The most common type of tumor was presacral cyst (40.9%) with overall tumor median size of 5.6 cm. Thirty-one (70.5%) patients underwent surgery, most often via the posterior route (83.9%). Posterior route surgery had significantly shorter operation time and tumors operated via posterior route were significantly smaller. The survival rate after surgery was 100%. The median course of disease was 6 months and median follow-up was 25 months. CONCLUSIONS: Presacral tumors have low occurrence and are more frequently observed in females in their 30s and 50s indicating a possible link between tumor occurrence and hormonal changes. Patients with lower limb symptoms were more likely to have a malignant presacral tumor. Posterior route was the most commonly utilized surgical approach. Supplementary iodine tincture treatment of cysts ruptured in operation could potentially be helpful in reducing the chance of recurrence.

Presacral neuroendocrine tumors associated with the Currarino syndrome.

Currarino syndrome (CS) is an autosomal dominant syndrome caused by mutations in MNX1 and characterized by anorectal abnormalities, partial sacral agenesis, and presacral masses. The presacral masses are typically benign; however, malignant degeneration can occur, and presacral neuroendocrine tumors (NETs) have been reported in six cases. We report three individuals from two families affected by CS in which multiple individuals developed presacral NETs. The first family, 491, had six members with features of CS, including two siblings who presented with presacral, Grade 2 NETs, one of which had metastasized to bone and lymph nodes. A germline c.874C>T (p.Arg292Trp) mutation was found in a highly conserved region of MNX1 in three affected members who underwent sequencing. A second somatic variant/deletion in MNX1 was not detected in either patient's tumor. In the second family, 342, the proband presented with an incidentally discovered presacral NET. The proband's father had previously undergone resection of a presacral NET, and so genetic testing was performed, which did not reveal an MNX1 mutation or copy number variants. The lack of a second, somatic mutation in the tumors from family 491 argues against MNX1 acting as a tumor suppressor, and the absence of a germline MNX1 mutation in family 342 suggests that other genetic and anatomic factors contribute to the development of presacral NETs. These cases highlight the variable presentation of CS, and the potential for malignancy in these patients.

Resection of a large presacral schwannoma from an all-posterior trans-sacral approach.

BACKGROUND: Presacral schwannomas vary greatly in size, and symptomatology. Resections may utilize anterior, posterior, or combined 360-degree approaches. CASE DESCRIPTION: A 67-year-old female presented with a progressively enlarging presacral schwannoma originating from the S1 nerve root. Here, we utilized a unique all-posterior, trans-sacral tumor resection technique that did not result in any increased neurological deficit, or warrant fusion (e.g., including operative video). Further, we avoided potential urogenital, vascular, and bowel injuries that are associated with anterior approaches to such lesions. CONCLUSION: Here, we described and demonstrated successful resection of a large presacral schwannoma originating from the S1 nerve root that was safely resected utilizing an all-posterior resection without fusion.

Application of the da Vinci surgical robot system in presacral nerve sheath tumor treatment.

The aim of the present study was to investigate the feasibility of da Vinci robotic surgery in the treatment of presacral tumors, and to observe its efficacy and safety. Between March 2016 and April 2019, 12 patients with presacral nerve sheath tumors underwent da Vinci robotic surgery, and the integrity of the tumor resection, surgical duration, pre- and postoperative visual analog scale (VAS) score, intra- and postoperative blood losses, postoperative bedtime, hospital stay and complications were observed. The tumor was completely removed in all 12 patients, the surgical duration ranged between 76 and 245 min (mean, 106.08 min) and the intraoperative blood loss was 76-145 ml (mean, 101.67 ml). The average preoperative VAS score of the patients was 3.25, and the average VAS score at 1 week, 1 month and 3 months post operation were 1.08, 0.42 and 0.08, respectively. All patients were out of bed on the second day after surgery, and the postoperative drainage was 10-50 ml (mean, 33.50 ml). The patients were hospitalized for 3-5 days (mean, 3.92 days). No complications occurred peri- or postoperatively, and wound pain was the main source of postoperative discomfort. In conclusion, the da Vinci robot can be applied to presacral nerve sheath tumors with high surgical safety, low-level bleeding, a rapid recovery and a short hospital stay, making it worthy of further study.

Surgical management of giant presacral schwannoma: systematic review of published cases and meta-analysis.

OBJECTIVE: Giant presacral schwannomas are rare sacral tumors found in less than 1 of every 40,000 hospitalizations. Current management of these tumors is based solely upon case reports and small case series. In this paper the authors report the results of a systematic review of the available English literature on presacral schwannoma, focused on identifying the influence of tumor size, tumor morphology, surgical approach, and extent of resection (EOR) on recurrence-free survival and postoperative complications. METHODS: The medical literature (PubMed and EMBASE) was queried for reports of surgically managed sacral schwannoma, either involving 2 or more contiguous vertebral levels or with a diameter ≥ 5 cm. Tumor size and morphology, surgical approach, EOR, intraoperative and postoperative complications, and survival data were recorded. RESULTS: Seventy-six articles were included, covering 123 unique patients (mean age 44.1 ± 1.4 years, 50.4% male). The most common presenting symptoms were leg pain (28.7%), lower back pain (21.3%), and constipation (15.7%). Most surgeries used an open anterior-only (40.0%) or posterior-only (30%) approach. Postoperative complications occurred in 25.6% of patients and local recurrence was noted in 5.4%. En bloc resection significantly improved progression-free survival relative to subtotal resection (p = 0.03). No difference existed between en bloc and gross-total resection (GTR; p = 0.25) or among the surgical approaches (p = 0.66). Postoperative complications were more common following anterior versus posterior approaches (p = 0.04). Surgical blood loss was significantly correlated with operative duration and tumor volume on multiple linear regression (both p < 0.001). CONCLUSIONS: Presacral schwannoma can reasonably be treated with either en bloc or piecemeal GTR. The approach should be dictated by lesion morphology, and recurrence is infrequent. Anterior approaches may increase the risk of postoperative complications.

Laparoscopic surgery of a presacral epidermoid cyst: A case report.

INTRODUCTION: The best approach for resecting epidermoid cysts is still controversial. We describe a case of an epidermoid cyst in which laparoscopic resection was performed successfully. PRESENTATION OF CASE: 63 × 55-mm well-defined cystic mass was incidentally detected by computed tomography in the presacral cavity of a 50-year-old woman during evaluation for upper abdominal pain. Magnetic resonance imaging showed a cystic tumor with a low signal intensity on T1-weighted images and, high signal on T2-weighted images in the left dorsal side of the rectum. This tumor was diagnosed as a developmental cyst, and laparoscopic resection was performed. Resection of the tumor was performed with negative margins. This tumor was histopathologically diagnosed as an epidermoid cyst. There was no evidence of malignancy, and no postoperative event or signs of recurrence occurred 6 months postoperatively. DISCUSSION: In our patient, there was no difficulty in the field of view and forceps operability during laparoscopic surgery. Furthermore, it is possible to perform laparoscopic surgery with minimal damage to the muscles, nerves, and rectum, leading to the preservation of anal function. CONCLUSION: Laparoscopic resection of an epidermoid cyst may be a better option in carefully selected cases with consideration of the tumor size and location.

Laparoscopic Resection of Presacral Tumor: A New Approach in the Era of the Minimally Invasive Surgery.

Presacral tumors are rare; however, once diagnosed, surgical resection is recommended even in asymptomatic patients as there is potential risk for growth or malignant transformation. Many different types of surgical approaches to resect presacral tumors have been reported including posterior, anterior, and combined abdominosacral approaches. With introduction of the minimally invasive approach, laparoscopic or robotic approaches to resect presacral tumors are reported increasingly. We report a case of successful anterior laparoscopic resection for a presacral mass that was incidentally diagnosed during management of pancreatitis.

Neuroendocrine Tumor Arising in a Tailgut Cyst: A Rare Presacral Tumor.

A tailgut cyst (retrorectal cystic hamartoma) is an uncommon lesion that develops in the presacral (retrorectal) space. Malignant change in a tailgut cyst is extremely rare and presents as a soft tissue (presacral) or bone (sacral) neoplasm. We report a case of tailgut cyst in which a neuroendocrine tumor developed in a 25-year-old female. Computed tomography and magnetic resonance imaging scans revealed a sacrococcygeal malformation with absent left S4 and S5 and a partly cystic lesion within the right presacral space. Histologically, the lesion contained cystic and solid elements. The cysts were lined by columnar and stratified squamous epithelial cells with underlying patchy smooth muscle. The solid element was a partly necrotic neuroendocrine tumor composed mainly of ribbons of tumor cells, which showed mitotic activity and expressed cytokeratin, chromogranin, and synaptophysin. Histologically, tailgut cysts are lined by epithelium and contain scattered smooth muscle bundles in the cyst wall. Although rare, the possibility of tailgut cyst with neuroendocrine tumor should be included in the differential diagnosis of an enlarging presacral tumor.

Controversies in presacral tumors management / Controvérsias no tratamento de tumores pré-sacrais

ABSTRACT Presacral tumors are rare lesions of the retrorectal space that can present diagnostic and therapeutic difficulty because of their anatomic location and the different tissue types and etiology. Although the diagnosis and management of these tumors has evolved in recent years, several points still to be addressed in order to improve perioperative diagnosis and treatment. In the upcoming we will try to highlight some controversial points; the pre-operative biopsies, neoadjuvant therapy, the necessity of surgery and the role of minimally invasive surgeries of presacral tumors.

RESUMO Tumores pré-sacrais são lesões raras do espaço retrorretal que podem trazer dificuldades diagnósticas e terapêuticas por causa de sua localização anatômica e também pelos diferentes tipos de tecidos e etiologia. Embora nos últimos anos o diagnóstico e tratamento desses tumores tenham evoluído, diversos pontos ainda devem ser estudados com vistas à melhora do diagnóstico e tratamento no perioperatório. Mais adiante, tentaremos esclarecer alguns pontos controversos; biópsias pré-operatórias, terapia neoadjuvante, a necessidade de cirurgia e o papel das cirurgias minimamente invasivas para os tumores pré-sacrais.

Colorectal Stenting for Obstruction due to Retrorectal Tumor in a Patient Unsuitable for Surgery.

Fund of knowledge on palliative treatment of unresectable retrorectal tumors is scare. Here, we reported a non-surgical treatment of a huge retrorectal malignant tumor in an aged and debilitated patient complicated with colorectal obstruction. An 86-year-old male with severe comorbidities was admitted with acute colorectal obstruction owing to an untreated retrorectal malign epithelial tumor. There was a lobulated retrorectal mass, 20 cm × 15 cm at largest size, extending to the superior iliac bifurcation level, caused an obstruction of the rectal lumen. He was not suitable for surgical excision because of the severe comorbidities. Rectal obstruction was palliated by two self-expandable metallic stents. He tolerated the procedures well and post-procedural course was uneventful. After four months, stents were patent and the patient was continent. Stenting for colorectal obstruction owing to a retrorectal tumor can be feasible in patients who are not suitable for surgery (aged, debilitated, advanced tumor). It avoided the surgical trauma to a high-risk patient and ensured the continuity of continence. As far as we know, this was the first report on colorectal stenting for a retrorectal tumor.

Myelodysplastic Syndrome Developing Presacral Extramedullary Hematopoiesis with Atypical MRI Findings.

A 64-year-old woman was diagnosed to have refractory cytopenia with multilineage dysplasia (RCMD) including an increased number of sideroblasts in the bone marrow (BM). Computed tomography (CT) revealed a presacral mass which showed iso- or high-intensity signals according to T1-weighted and hypo-intensity signals on T2-weighted magnetic resonance imaging (MRI). CT-guided biopsy revealed the presence of hematopoietic tissue with features that correlated with the BM findings. While the formation of extramedullary hematopoiesis in the presacral area is rare, it is important to differentiate it from other parasacral tumors even though such differentiation is often difficult. This patient demonstrated atypical MRI signals possibly due to an increase in the cellular iron content of the erythroid precursors.

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q). In this context, we report a patient with a pure de novo duplication 3q26.32-q27.2. The patient had the clinical diagnosis of Currarino syndrome (CS) (characterized by the triad of sacral anomalies, anorectal malformations and a presacral mass) and additional features, frequently detected in patients with a dup(3q). Mutations within the MNX1 gene were found to be causative in CS but no MNX1 mutation could be detected in our patient. Our comprehensive search for candidate genes located in the critical region of the duplication 3q syndrome, 3q26.3-q27, revealed a so far neglected phenotypic overlap of dup(3q) and the Pierpont syndrome, associated with a mutation of the TBL1XR1 gene on 3q26.32.

Problems in Diagnosis and Treatment of Retrorectal Tumors: Our Experience in 50 Patients.

Retrorectal tumors are rare lesions in adults, which remains a difficult diagnostic and management problem. The purpose of this study was to evaluate the results of surgical management of retrorectal tumors in our institution. In a retrospective study, a consecutive series of patients who underwent surgical excision of a retrorectal tumor were identified from a database. Medical records, radiology, pathology reports and surgical approach were checked retrospectively. The data was analyzed using SPSS statistical software (version 18). From 50 patients, 24 were male, and 26 were female with the mean age of 41.7 years. The origin of mass was congenital in 46% (23 cases) and neurogenic in 14% (7 patients), bone origin in 12% (6 cases) and miscellaneous in 24% (12 cases). In total, 56.7% (21 cases) were malignant. Surgical approaches included laparotomy in 11 cases, the sacral approach in 17 cases, the anterior-posterior approach in 14 cases and one case through abdomino-sacral approach. The mean follow-up was 56.7 (10-277) month. Ten patients died due to extensive metastases with a mean survival of 46.6 (1-158) months. Primary urethrorectal tumors are very rare. Successful treatment of these tumors requires careful clinical evaluation and expertise in pelvic surgery.