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Review Article
Gastrointestinal Imaging
2024
:14;
17
doi:
10.25259/JCIS_27_2024

Presacral tumors: A systematic review of literature

Department of Surgery, Barking Havering and Redbridge Univerisity Hospitals NHS Trust, Romford, United Kingdom.

*Corresponding author: Jeffrey Otote, Department of Surgery, Barking Havering and Redbridge Univerisity Hospitals NHS Trust, Romford, United Kingdom. j.otote@nhs.net

Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Otote J, Butnari V, Ravichandran P, Mansuri A, Ahmed M, Pestrin O, et al. Presacral tumors: A systematic review of literature. J Clin Imaging Sci. 2024;14:17. doi: 10.25259/JCIS_27_2024

Abstract

Presacral/Retrorectal tumors (RRT) are rare lesions that comprise a multitude of histological types. Data on surgical management are limited to case reports and small case series. The aim of the study was to provide a comprehensive review of the epidemiology, pathological subtypes, surgical approaches, and clinical outcomes. A PubMed search using terms “retrorectal tumor” and “presacral tumor” was used to identify articles reporting RRT of non-urological, non-gynecologic, and non-metastatic origin. Articles included were between 2015 and 2023. A total of 68 studies were included, comprising 570 patients. About 68.2% of patients were female, and the mean overall age of both sexes was 48.6 years. Based on histopathology, 466 patients (81.8%) had benign lesions, and 104 (18.2%) were malignant. In terms of surgical approach, 191 (33.5%) were treated anteriorly, 240 (42.1%) through a posterior approach, and 66 (11.6%) combined. The mean length of stay was 7.6 days. Patients treated using the posterior approach had a shorter length of stay (5.7 days) compared to the anterior and combined approaches. RRT are rare tumors of congenital nature with prevalence among the female sex. R0 resection is crucial in its management, and minimal access surgery appears to be a safer option in appropriate case selection.

Keywords

Retrorectal tumors
Congenital cystic lesions
Perineal approach
Transabdominal approach
Combined abdominoperineal approach

INTRODUCTION

The anatomical complexity and inherent heterogeneity of retrorectal and presacral space lesions pose significant diagnostic hurdles, rendering their surgical management a subject of ongoing debate within the medical community.[1] The configuration of the retrorectal/presacral space presents significant surgical challenges due to its intricate anatomical architecture. This space is defined by the mesorectum anteriorly, the presacral fascia posteriorly, and the lateral boundaries of the iliac vessels and ureters. While precise epidemiological data regarding these lesions are limited, existing literature suggests an estimated incidence of 1 in 40,000–60,000 hospital admissions. Notably, these neoplasms demonstrate a female predilection and a median age of onset at 45 years.[2,3] The rise in diagnostic accuracy for this pathology can be linked to the combined influence of technological advancements in imaging and the increased use of these technologies in gynecological investigations, where the condition is a common finding. This explains the observed higher prevalence among women in their early reproductive years.[4] Retrorectal tumors (RRT) are characterized by a high prevalence of benignity and asymptomatic presentation. Nevertheless, the significant variability in malignant incidence, ranging from 21% to 50%, necessitates careful clinical assessment and prompt management strategies.[5,6] While the majority of RRT exhibit benign histology, surgical resection is often advised in light of the non-negligible risk of malignant degeneration (up to 8%) and the potential for suppurative complications, estimated at approximately 30%.[4,7] Surgical management of retrorectal tumors necessitates meticulous selection of the approach to ensure adequate exposure, minimize iatrogenic injury, and optimize clinical outcomes while mitigating complications. Recognizing the rarity of these lesions and the paucity of dedicated literature, RRTs pose a significant diagnostic and therapeutic challenge for contemporary surgeons. Therefore, this systematic review offers a valuable contribution to the existing literature. As such, this study aims to deliver a comprehensive analysis of the epidemiology, pathological subtypes, surgical approaches, and clinical outcomes associated with RRTs.

MATERIAL AND METHODS

To comprehensively elucidate the intricacies of RRT, we conducted a systematic literature review encompassing their epidemiology, pathologic subtypes, diverse surgical approaches, and associated clinical outcomes.

Search strategy

The review was conducted in line with the protocol, in accordance with the Cochrane handbook for systematic reviews of interventions and reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.[8,9] This review was registered in PROSPERO: CRD42024500067.

A PubMed search using the terms “retrorectal tumor,” and “presacral tumor” was used to identify the articles reporting of RRT. The search was undertaken on the September 01, 2023, and looked at all articles between March 2015 and September 2023.

Data selection

Initially records were first screened for relevance based on their title and abstract. Two authors (J.O., V.B.) independently screened records for inclusion and were blinded to each other’s decisions. Disagreements between individual judgments were resolved by consensus, and if no agreement could be made, a third author (A.M.) was consulted.

Articles were included if they were full-text case reports, case series or review articles describing primary RRT. The target population consisted primarily of adults (≥16 years old). Articles reporting metastatic disease, urological or gynecological origin of tumor were excluded from the study. Articles which were descriptive and non-English were also excluded from the present study. A flowchart of the selection process in the format of the PRISMA is presented [Figure 1].[9]

Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagram.
Figure 1:
Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagram.

Data extraction

Two independent reviewers (J.O., V.B.) manually extracted data from full-text articles into a structured database (Microsoft Excel). Extracted fields included primary author, publication year, key study characteristics (sample size, age, gender, and recruitment design), histological type of reported tumors (congenital, neurogenic, osseous, inflammatory, or miscellaneous), surgical approach, operative time, length of stay, resection status for malignancies, overall complication rate, and recurrence status. Disagreements regarding data extraction or categorization were resolved through discussion and consensus. If consensus could not be reached, a senior author (A.M.) adjudicated the case.

Definitions

Tumors were categorized according to established definitions: Congenital – lesions present at birt h (most common); neurogenic – slow-growing tumors arising from peripheral nerves (second most common); osseous – tumors arising from bone, cartilage, or marrow; inflammatory less common, potentially linked to perirectal or abdominal infections; and miscellaneous – encompasses 10–25% of cases, including lipomas, fibromas, hemangiomas, leiomyomas, and liposarcomas.[10]

Data analysis

Given the significant heterogeneity between studies on this topic, a formal narrative synthesis was the most appropriate analytical approach. Statistical analyses primarily relied on descriptive statistics, where findings were presented as rates, means, and ranges. For subgroups defined by histological type (e.g., congenital, neurogenic, osseous, inflammatory, and miscellaneous), survival, malignancy potential, surgical approach, and tumor recurrence rates were expressed as rates and means.

RESULTS

Overview on basic characteristics of included studies

A comprehensive literature search yielded 595 citations encompassing abstracts and full-text articles. Figure 1 illustrates the selection process, ensuring a well-defined and representative sample for subsequent analysis. Rigorous screening eliminated duplicates (26 conference abstracts); irrelevant studies based on selection criteria were excluded (n = 501). Ultimately, 68 studies (570 patients) met the inclusion criteria, focusing on primary RRTs. Table 1 summarizes single case reports, while Table 2 details case series. Females constituted 68.2% of the cohort, with an average age of 48.6 years (range: 18–89).

The primary tumors in this study were classified according to the Uhlig and Johnson classification syste m.[11] This system categorizes tumors into five groups: congenital, neurogenic, osseous, inflammatory, and miscellaneous [Table 3]. The majority of tumors in this study were benign (466, or 81.8%). The most common type of benign tumor was congenital (56.8%), followed by neurogenic (15.8%), miscellaneous (8.9%), inflammatory (7.2%), and osseous (0%).

Table 1: Summary of case reports of retrorectal tumors
Author Patient Age Sex Primary Lesion /Recurrence Primary Symptoms Diagnosed Incidentally? Diagnosis method Preoperative Histopathology Mean tumor diameter on cross sectional imaging (cm) Lesion extension Above/Below S3 Operative approach (A/P/C) Operative method (Open/Lap/Robotic/Converted- reason for conversion/TAMIS) Benign/Malignant Histopathology Mean OR (min) LOS (days) Complete resection? (Y/N/NR) Combined resection? (Y/N/NR) Overall Complication? (Y/N/NR) Recurrence reported in F/U period? (Y/N/NR)
Kumassah PK, et al.[12] 37 F Primary Coccydynia CIBH No MRI FNA NR Above C Open Mal Cystic hamartoma, with mucinous adenocarcinoma NR 6 Y Y (en bloc with rectum with coloanal anastomosis) N N
Iwata E, et al.[13] 25 F Primary Coccydynia No CT FNA 3.5 Below P (Kraske) Open Mal Tailgut cyst in which a Grade 2 Neuroendocrine Tumor NR NR Y N NR NR
Cataneo J, et al.[14] 34 F Primary CIBH No MRI Not performed NR Below A Robotic B Dermoid cyst NR 1 Y N N N
Fang H, et al.[15] 43 M Primary Asymptomatic Yes MRI FNA 16.1 Above A Open B Tailgut cyst NR 5 Y N N N
Mora-Guzmán I, et al.[16] 56 F Primary Coccydynia, anal fistula No MRI FNA 4.1 Below P (Kraske) Open B Tailgut cyst NR 5 Y Y (en bloc with the coccyx) N N
Jun C, et al.[17] 22 F Primary Asymptomatic Yes MRI FNA NR Above A Robotic B Schwannoma NR 3 Y N N NR
Criss CN, et al.[18] 19 F Recurrence Left buttock and thigh pain No MRI Not performed 8.2 Above A Robotic B Lipoblastoma 960 4 Y N N NR
Yang BL, et al.[19] 36 M Recurrence Coccydynia No MRI Known from prior resections 4 Below P (Kraske) Open Mal Moderately differentiated adenocarcinoma NR NR Y N N N
Cho MH, et al.[20] 70 F Primary Coccydynia No MRI FNA 3.7 NR NR NR B Myelolipoma NR NR Y N N NR
Roy SP, et al.[21] 29 F Primary Coccydynia No USS Not performed 4.6 Above A Robotic B Tailgut cyst NR 2 Y N N NR
Kesavan S, et al.[22] 51 F Primary Intermittent lower abdominal pain Yes USS Not performed 4.7 Above A Laparoscopic B Epidermoid cyst NR 2 Y N N N
Tarchouli M, et al.[23] 45 M Primary Intermittent lower abdominal pain No MRI Not performed 7 Below P (Kraske) Open Mal Low-grade leiomyosarcoma NR 2 Y N N N
Bouzid A, et al.[24] 22 F Primary Intermittent lower abdominal pain No USS Not performed 8.5 Above A Laparoscopic converted to open due to suspicion of S1 nerve involvement B Ganglioneuroma NR 7 N N N N
Gutierrez O, et al.[25] 37 F Primary Acute pelvic pain Yes MRI Not performed 2.9 Below P (York-Mason) Open B Cystic hamartoma NR NR Y N Y NR
Tan GHC, et al.[26] 76 M Primary Acute pelvic pain Yes CT Not performed 15 Above A Open B Angiomyxoma/liposarcoma 415 43 Y N Y (SSI required surgical drainage) N
Seydafkan S, et al.[27] 52 F Recurrent Asymptomatic Yes USS Known from prior resections 5.3 Below P (Kraske) Open B Tailgut cyst NR NR Y N NR NR
Carchman E, Gorgun E[28] 76 M Primary Obstructive uropathy No CT FNA 8 Above A Robotic B Low-grade fibromyxoid sarcoma fibrosarcoma NR 3 Y N N NR
Alvarez-Sarrado E, et al.[29] 49 F Primary Asymptomatic Yes CT Not performed 13.5 Above A Open B Epidermoid cyst NR 60 Y N Y (Decompensation of epilepsy) NR
Şahin S et al.[30] 55 F Primary Asymptomatic Yes MRI Not performed 17.3 Below P (Kraske) Open Mal Tailgut cyst (malignant degeneration) NR NR Y N NR NR
Pizzuti V et al.[31] 41 M Primary Coccydynia No MRI Not performed 4 Below P (Modified Kraske) Open B Schwannoma NR 4 Y N N NR
Patel A et al.[32] 54 F Recurrence Coccydynia No MRI Known from prior resections 9.7 Below C Laparoscopic also Kraske B Tailgut cyst 160 4 Y NR N N
Perungo T et al.[33] 23 F Primary Coccydynia No CT Not performed 4.6 Below P (Kraske) Open B Epidermoid cyst. NR NR Y N N N
Inada R et al.[34] 67 F Primary Asymptomatic Yes CT Not performed NR Below A Laparoscopic B Tailgut cyst 199 NR Y Y (en block with descending colon) N N
Huang M, et al.[35] 34 M Primary Asymptomatic Yes USS FNA 11.3 Above A Open Mal Schwannoma NR 7 Y N N N
Kawamura J, et al.[36] 61 F Primary Asymptomatic Yes CT FNA NR Below P TAMIS Mal Extra-nodal marginal-zone lymphoma of mucosa associated lymphoid tissue (MALT) 100 7 Y N N NR
Zhu XL[37] 51 M Primary Abdominal pain No CT Not performed 9.3 Above A Open Mal primary alveolar rhabdomyosarcoma NR NR Y N N N
Tobias-Machado M[38] 60 M Primary Abdominal pain No CT Not performed NR Above A Laparoscopic B Schwannoma 150 2 Y N N NR
Alshahri J[39] 74 M Primary Back pain No CT Not performed 11.2 Above A Open Mal Synchronous Chondroma of sacrum and moderately differentiated adenocarcinoma NR NR Y Y (en bock with sigmoid colon with end-to-end colorectal anastomosis as well as low sacrectomy with VRAM flap) Y (SSI requiring IR drainage as well as postoperative PE) N
Kearney D[40] 58 F Primary Chronic abscess in sacral area Yes MRI FNA 9.3 Below P (Kraske) Open B Tailgut cyst NR 5 Y N N N
Mahajan UV[41] 62 F Primary Back pain radiating to the whole lower limb No MRI FNA 3.1 Above P Open B Perineural NR 7 Y Y (A sacral laminectomy) Y N
Li W[42] 33 M Primary Asymptomatic Yes MRI Not performed 6.4 Below P (Kraske) Open B Tailgut cyst NR 10 Y Y (en block with coccyx) N NR
Naf F[43] 59 F Primary Coccydynia Yes MRI Not performed 4.7 Below A Laparoscopic B Teratoma NR 10 Y N NR NR
Singh A, et al.[44] 63 M Primary CIBH No MRI FNA 5.3 Below NR NR Mal Well-differentiated neuroendocrine tumor (Grade I) NR NR Y N NR N
Tokuyama S[45] 31 M Primary Pain in the thigh Yes CT Not performed 3.4 Above A Laparoscopic B Tailgut cyst 132 6 Y N N N
Borsuk DJ[46] 31 F Recurrence F/U post previous resection No MRI Not performed 8 Below A Robotic B Epidermoid cyst NR 1 Y N N N
Schleinstein HP[47] 94 M Primary CIBH No CT Not performed 10 Below A Open B Schwannoma NR 7 Y N Y (Major bleeding during surgery required 4 units of RBC) NR
Colombo F[48] 46 M Recurrence Second
opinion regarding his recurrent sacral epidermoid tumor
No MRI Not performed NR Below P Open Mal NR NR N N N N Y (local recurrence diagnosed during surveillance at 6 moths)
Benjamin B[49] 29 F Primary Acute lower abdominal pain Yes MRI Not performed 6 Below A Open B Castleman’s NR NR Y Y (en block with rectosigmoid with end-to-end colorectal anastomosis) N N
Carvalho BJ[50] 41 M Primary Acute lower abdominal pain No CT Not performed 3.9 Above A Laparoscopic B Schwannoma 260 1 Y N N N
Turati L[51] 75 M Primary Coccydynia No MRI Not performed 14.5 Below A Open Mal Leiomyosarcoma NR 35 Y Y (Total pelvic exenteration) Y (chylous leak, conservatively
treated with an alipidic diet)
Y (distant disease diagnosed during surveillance at 6 months)
Rakici SY, et al.[52] 55 F Primary Inability to walk that emerged in the last 1 year No MRI Incision biopsy 1.25 Above P Open B Ganglioneuromas NR NR Y N Y (unable to urinate post operative day 2) Y (local disease recurrence diagnosed during surveillance in 1 year)
Tsarkov PV[53] 52 F Primary Acute lower abdominal pain No MRI Not performed 6 Above A Laparoscopic B Tailgut cyst 120 3 Y N N N
Zhao XR[54] 44 F Primary Coccydynia No CT FNA 16 Above A Open Mal Cystic hamartoma NR NR N (Adherent to surrounding structures, so unresectable) N N NR
Maemoto R[55] 70 F Primary Follow up post rectal cancer surgical treatment Yes CT Not performed 2.7 Above A Open B Epidermoid cyst. NR NR Y Y (en bloc with colonic involved mesentery preserving vasculature) N N
Santos AJ[56] 68 F Primary Lower abdominal pain Yes MRI Not performed 6.3 Above A Open B Schwannoma NR 3 Y N N N
Bhadarge PS[57] 65 F Primary Lower abdominal pain No MRI Not performed NR Above A Open Mal Primitive neuroectodermal tumors NR NR Y N N NR
Emohare O[58] 39 M Primary Chronic low-back pain Yes MRI Not performed 8 Above A Laparoscopic B Schwannoma 249 4 Y N N N
Brackzynski AK[59] 71 F Primary Severe bacterial meningitis Yes MRI FNA NR Above A Open B Anterior sacral meningocele NR NR Y N N N
Rege S[60] 40 F Primary Multiple miscarriages Yes USS Not performed 10 Below P Open B Fibro collagenous cyst wall lined by stratified squamous epithelium NR NR Y Y (Sacral laminectomy) N N
Lorusso D et al[61] 47 F Primary Anal fissure Yes MRI FNA 7 Above A Open Mal Mucinous adenocarcinoma with osseous metaplasia NR NR Y N N NR
Andrade P[62] 60 F Primary Chronic low-back pain Yes MRI FNA 4 Below P Open Mal Squamous cell carcinoma NR NR Y Y en block with coccyx N N
Total 51
(33F18M)
45 Primary,
6 Recurrent
42 symptomatic
9 asymptomatic
23 Incidental 30 MRI
15 CT
6 USS
31 Not performed.
16 FNA
3 Known from prior resections.
1 Incision Biopsy
26 Above
24 Below
1 NR
30 A
19 P
2 C
2 NR
32 Open
9 Laparoscopic
6 Robotic
2 Converted
1 TAMIS
1 NR
35 Benign
16 Malignancies
48 complete
3 incompletes
39 Uncombined
11 Combined
1 NR
7 Complications
5 NR
19NR
3 Recurrences

Key: F – Female, M – Male, NR – Not reported, Y – Yes, N – No, A – Anterior, P – Posterior, C – Combined, CT – Computed Tomography, MRI – Magnetic Resonance Imaging, TAMIS – Transanal Minimally Invasive Surgery, FNA – Fine Needle Aspiration, Mal – Malignant, B – Benign, F/U – Follow Up, USS: Ultrasound scan, CIBH: Change in bowel habit, MALT: Mucosa associated lymphoid tissue, LOS: Length of stay, OR: Operative time, SSI: Surgical site infection, IR: Interventional radiology, PE: Pulmonary embolism

Table 2: Summary of case series of retrorectal tumors.
Author Number of CS included Mean Age F (n) M (n) Primary symptoms Diagnosed incidentally Asymptomatic Diagnosis method Ratio F:M in % B (n) Mal (n) Mean tumor diameter on cross-sectional imaging (cm) Underwent Surgery Operative approach (A.P.C) Operative method (open/lap/robotic/converted/both) Mean OR (min) LOS (days) Complete resection? (Y/N/NR) Combined resection? (Y/N/NR) Overall Complication? (Y/N/NR) Recurrence? (Y/N/NR)
L. Hopper, et al.[63] 69 50 39 30 Pain (abdominal, buttocks, flank, sacrococcygeal, rectal), bowel, neurological (sciatica, altered sensation) & urinary symptoms, and presence of a mass. 19 3 CT and MRI performed 28/69 (41%) and 34/69 (49%), respectively 57:43:00 40 29 NR 27 6.15.6 Open NR NR NR Y (6/69) NR NR
Yin J, et al.
[64]
7 44 6 1 NR NR NR MRI 100% 86:14:00 6 1 NR All 5.0.2 Robotic 84 5.7 Y (1/7) Y (2/7) N N
Leclerc A, et al.
[65]
6 52 3 3 Constipation, dysuria, radicular or lower back pain 0 0 All had CT and MRI 50:50:00 6 0 NR All A Open 240 6 Y (1/6) NR N N
Isla A, et al.
[66]
19 51 11 8 Lower back pain with lower limb radiation, paresthesia, 6 6 All had
CT/MRI, or both
58:42:00 18 1 NR All 6.9.4 Open NR NR Y14/19 NR 1 lumbar spinal stenosis, 1 Impairment of external popliteal sciatic nerve Y 3/19
Kilic A, et al.
[67]
16 41 10 6 Pelvic, sacral, lower back and perianal pain, discomfort, changes in bowel habits, difficulty in defecation, and tenesmus 0 0 MRI 100% 63.5:37.5 13 3 NR 13 5.8.1 NR NR NR NR NR Y (2/14) Y (1/14)
Rompen IF, et al.
[68]
5 47 5 0 NR 5 4 MRI 100% 100:0 0 5 NR All A Robotic (da Vinci) 235 5.6 NR Y (2/5) NR NR
Manabe T, et al.
[69]
3 46 1 2 NR 3 3 CT and MRI were performed 33:67 3 0 NR All A Laparoscopic 265 7.7 Y N N N
Ramalingam K, et al.
[70]
4 41 4 0 Back pain, constipation, CIBH 1 0 3MRI, 1 CT 100:0 4 0 NR All P (Kraske) Open NR NR NR NR N NR
Wang B, et al.
[71]
10 43 9 1 Pain (Abdominal, leg, lower back, perineal, sacral), CIBH, 0 0 7CT, 9 MRI, 4 USS 90:10:00 10 0 NR 6 2.4.0 5 Open, 1 Laparoscopic NR NR NR N Y 3/10 NR
Oguz A, et al.
[72]
17 36 12 5 Tenesmus, palpable perineal lump, lower urinary tract dysfunction, and rectal hemorrhage 2 0 15 MRI, 16 CT 71:29:00 16 1 NR All 7.6.4 NR NR 12.4 NR NR Y (4/17) Y (1/17)
Carpelan-Holmström M, et al.
[73]
52 43 40 12 Lower abdominal pain 30 30 MRI 100% 77:23:00 48 4 NR All 7.44.1 NR 118 3 Y (51/52) N Y (11/52) 14/52 (1 mal)
Dwarkasing RS, et al.
[74]
28 NA 22 6 Nonspecific pelvic pain, obstructed defecation NR NR MRI 100% 79:21:00 23 5 NR NR NR NR NR NR NR NR NR Y (2/28)
Maddah G et al.
[75]
50 42 26 24 CIBH NR NR NR 52:48:00 0 50 NR All 22.34.30 NR NR NR NR NR NR NR
Buchs NC, et al.
[76]
62 44 50 12 Pain, tenesmus, constipation, incontinence 13 13 45 MRI, 20 CT, 8 ERUS 81:19:00 49 13 NR All 55.7.0 NR NR NR Y (56/62) NR NR 9
Xu XM
[77]
8 34 6 2 Sacrococcygeal pain, urinary retention, constipation 1 1 CT and MRI were performed for all 75:25:00 7 1 NR All 1.6.1 Open NR NR Y NR N Y (1 Mal)
Huisman JF
[78]
20 64 6 14 NR NR NR NR 30:70 20 0 NR All P Laparoscopic NR NR Y NR NR NR
Gould LE, et al.
[79]
143 46 106 37 Pain, CIBH, rectal bleeding NR 0 76 MRI 74:26:00 125 18 NR 107 24.64.15 78 (Open)
10 (Laparoscopic)
NR NR NR Y (24) Y (104/143) Y (5)
Total 519 356 163 80 60 388 131 406
28NR
161.221.64 87 Open
6 NR
13 Lap
2 Robotic
126 complete 34 reported combined resections 125 reported complications 36 reported recurrences

CS: Case series, F: Female, M: Male, n: Number, Y: Yes, N: No, NR: Not reported, CIBH: Change in bowel habit, CT: Computed Tomography, MRI: Magnetic Resonance Imaging, USS: Ultrasound scan, ERUS: Endoscopic Rectal Ultrasound, B: Benign, Mal: Malignant, A: Anterior, P: Posterior, C: Combined, Lap: Laparoscopic, OR: Operative time, LOS: Length of stay

Table 3: Classification of retro-rectal tumors in our series (570 cases in 68 papers)
Classification Case (% from overall total)
Congenital 324 56.8
Benign 284 49.8
Tailgut Cyst 145 25.4
Teratoma 33 5.8
Epidermoid Cyst 36 6.3
Dermoid Cyst 25 4.4
Developmental Cyst 1
Duplication Cyst 38 6.7
Anterior Sacral Meningocele 4
Indeterminant Cyst 2
Malignant 40 7
Chordoma 20 3.5
Primitive neuroectodermal 2
Tailgut cyst (malignant degeneration) 6
Malignant Teratoma 3
Germ Cell Tumor 1
Developmental Cyst (malignant transformation) 5
Dermoid Cyst (malignant degeneration) 2
Duplication Cyst (malignant degeneration) 1
Neurogenic 103 18.1
Benign 90 15.8
Neurofibroma 5
Ganglioneuroma 5
Paraganglioma 2
Schwannoma 54 9.5
Neuroblastoma 3
Perineural cyst (Tarlov) 21 3.7
Malignant 13 2.3
Neurofibrosarcoma 2
Neuroendocrine Carcinoma 3
Neuroblastoma 1
Ependymoma 2
Ganglioneuroblastoma 1
Malignant peripheral nerve sheath tumor 4
Osseus 8 1.4
Benign 0 0
Malignant 8 1.4
Ewing Tumor 2
Chondrosarcoma 4
Synovial Sarcoma 1
Malignant Giant Cell Tumor 1
Inflammatory 41 7.2
Benign 41 7.2
Abscess 28 4.9
Fibrosis 3
Cyst hydatid 3
Inflammatory Cyst 2
Diverticulitis 1
Fistula 1
Unknown Cyst 3
Malignant 0 0
Miscellaneous 94 16.5
Benign 51 8.9
Leiomyoma 6
Fibroma 4
Myelomeningocele 2
Myelolipoma 3
Solitary fibrous tumor (SFT) 4
Hemangiopericytoma 1
Oleogranuloma 1
Lipoma 1
Angiomyxoma 4
Neuroenteric Cyst 1
Angiomyofibroblastoma 1
Fibrolipoma 1
Peritoneal serous cystadenoma 1
Desmoid tumor 1
Lymphoid hyperplasia (Castleman's disease) 1
Lipoblastoma 1
Bronchogenic cyst 1
Angiomyolipoma 1
Sclerosing Epithelioid Fibrosarcoma 1
Hematoma 1
Angiofibroma 1
Lymphocele 1
Retention cyst of anal gland 4
Vascular 1
Normal tissue 1
Unknown 6
Malignant 43 7.5
Gastrointestinal stromal tumor 9
Lymphoma 4
Leiomyosarcoma 4
Liposarcoma 3
Undifferentiated sarcoma 7
Rhabdomyosarcoma 1
Adenocarcinoma 5
Mucinous Tumor 1
Squamous cell carcinoma 1
Spindle cell tumor 1
Desmoid type fibromatosis 1
Plasmacytoma 2
Intra-osseus ganglion cyst 1
Unknown 3
Total 570 100

This study identified 324 patients (56.8%) with congenital tumors, of whom 284 (87.7%) harbored benign lesions (primarily tailgut cysts at 44.8%). Malignant tumors were diagnosed in 40 patients (12.3%), exhibiting a statistically significant association with older age (51.4 vs. 43.1 years). Compared to benign counterparts, malignant tumors displayed a markedly higher recurrence rate (24.2% vs. 2%).

Amongst the studied patients, 18.1% (n = 103) presented with neurogenic tumors, characterized by a mean age of 48 years and a striking predominance of benignity (87.4%, n = 90). Schwannomas emerged as the leading benign subtype (9.5%, n = 54), while retention cyst of the anal gland constituted the primary form of malignancy (n = 4). Notably, malignant neurogenic tumors exhibited a significantly higher recurrence rate compared to their benign counterparts (7.1% vs. 3.2%) [Table 4].

Table 4: Demographic findings and clinical outcomes of retrorectal tumors included in the review.
Classification Case (%) Mean age (range) Complication (%) Recurrence (%)
Congenital 324 (56.8) 44.8 (21-74) 2 6.5
Benign 284 (49.8) 43.1 (21-71) 2.1 2.4
Malignant 40 (7.0) 51.4 (25-74) 1.5 24.2
Neurogenic 103 (18.1) 48 (22-94) 6.4 3.6
Benign 90 (15.8) 48 (22-94) 7.1 3.2
Malignant 13 (2.3) 47 0 7.1
Osseus 8 (1.4) 39.8 (16-58) 25 NR
Benign 0 - - -
Malignant 8 (1.4) 39.8 (16-58) 25 NR
Inflammatory 41 (7.2) 47.6 2.4 7.3
Benign 41 (7.2) 47.6 2.4 7.3
Malignant 0 - - -
Miscellaneous 94 (16.5) 51.3 (19-76) 1.6 3.2
Benign 51 (8.9) 49.3 (19-76) 0.7 0
Malignant 43 (7.5) 53.6 (35-75) 4.7 14
Overall benign 466 (81.8)
Overall malignant 104 (18.2)
Total 570 (100)

Osseous tumors comprised a mere 1.4% (n = 8) of all cases, characterized by a strikingly young mean age of 39.8 years and exclusive malignancy. Interestingly, chondrosarcomas constituted half of these malignant lesions. When compared to other tumor types, osseous tumors emerged as the youngest subgroup within the analyzed population.

This study identified a subset of 41 patients (7.2%) harboring inflammatory tumors, exclusively benign in nature. The spectrum encompassed abscesses (28 cases), diverticulitis (1 case), fibrosis (3 cases), cyst hydatid (3 cases), inflammatory cysts (2 cases), and unclassified cysts (3 cases). Notably, this group exhibited a higher mean age compared to other tumor categories, at 47.6 years.

Among the analyzed tumors, a noteworthy 16.5% (n = 94) were classified as miscellaneous, encompassing a diverse spectrum of lesions. Patients with miscellaneous tumors exhibited a higher mean age compared to other groups, at 51.3 years. A concerning trend emerged within this category: malignant miscellaneous tumors displayed significantly higher recurrence and complication rates compared to their benign counterparts (14% vs. 0% and 4.7% vs. 0.7%, respectively). Malignant composition – gastrointestinal stromal tumors took the lead among malignant miscellaneous tumors, with nine cases identified. Undifferentiated sarcomas followed closely behind, accounting for five cases. Further investigation into the specific subtypes and clinical characteristics of these aggressive miscellaneous tumors is warranted.

The operative approaches are listed in Table 5. The posterior approach was performed in 240 patients (42.1%), anterior approach in 191 patients (33.5%), and a combined approach in 66 patients (11.6%). The mean post-operative hospital stay was 8.4 days after an anterior approach was performed; 5.7 days after a posterior approach; and 6.6 days after a combined approach.

Table 5: Operative outcomes of retrorectal tumors according to surgical approach.
Approach Case # Mean OR (min)* Mean LOS (days)*
Anterior 191 293.2 8.4
Posterior 240 100 5.7
Combined 66 160 6.6
Operation method Case # Mean OR (min)* Mean LOS (days)* Complete resection (%) Combined resection (%) Complication rate (%) Recurrence rate (%)
Open 119 327.5 13.1 82.8 9.5 32.1 12
Minimally invasive 31 242.8 4.2 85.1 20 10 0
Many cases were “Not Reported” – the mean values only consider the cases with reported values, LOS: Length of stay, OR: Operative time, #means number i.e., Number of cases

The overall post-operative complication rate was 20.2% and included surgical site infection, neurological complications (lower limb weakness, paresthesia), hematoma, postoperative bleeding, and change in bowel habit. The overall post-operative recurrence rate was 6.9%.

Thirty-one patients underwent a minimally invasive procedure [Table 5], an approach which had lower recurrence and complication rates when compared to open surgery (0 vs. 12 % and 10 vs. 32.1%, respectively) and was associated with shorter length of stay (4.2 vs. 13.1 days). The operative time was also shorter in minimally invasive surgery (242.8 vs. 327.5 min).

DISCUSSION

RRT management presents a unique dilemma due to their rarity and diverse histology. While open surgery dominates existing literature, minimally invasive techniques are gaining traction. However, robust data scarcity, limited to case reports and small series, impedes definitive conclusions on patient selection, perioperative complications, and oncological outcomes for minimally invasive approaches. Our systematic review reveals female predominance, benign etiology, and congenital classification as common features. Malignant lesions, more prevalent in males, exhibit higher complication and recurrence rates post-resection. Posterior approach emerges as the minimally invasive method of choice with minimal morbidity. Laparoscopy and robotic-assisted laparoscopy, though primarily used in benign cases, show promise with shorter hospital stays and potentially lower recurrence rates. Further research with robust data is crucial to solidify the role of minimally invasive techniques in retrorectal tumor management, particularly for malignant cases.

Radiological presentations of RRT range from asymptomatic and incidental findings to symptomatic manifestations, often associated with infectious or malignant processes. Barraqué et al. report 50% asymptomatic cases in a series of 53, highlighting the potential for subclinical presentation.[80] Symptomatic cases typically present with abdominal and lower back pain, possibly indicating underlying infection or malignancy.[81] Other reported symptoms include rectal fullness and sciatic pain.[82]

The diagnosis of RRTs presents a significant challenge due to their complex anatomical location and diverse presentations. A multimodal approach is essential for accurate diagnosis. While physical examination, often aided by proctoscopy, has limited sensitivity, with palpable lesions detectable in only approximately 35% of cases, it can be useful in excluding lower rectal involvement.[82] Proctoscopy and flexible sigmoidoscopy offer restricted visualization but can be employed to detect mucosal involvement. In cases with a draining sinus, fistulography may be utilized.[83] Magnetic resonance imaging has emerged as the gold standard imaging modality due to its exquisite soft-tissue resolution, enabling accurate assessment of tumor size, location, extent, and relationship to adjacent structures, thereby facilitating surgical planning.[84] Computed tomography (CT) scanning serves as a complementary tool, providing valuable information regarding RRT consistency (cystic vs. solid) and the degree of invasion into surrounding tissues.[81] In addition, CT scan features can offer clues to the underlying pathology, with homogeneous lesions suggesting benignity and heterogeneous lesions indicating a higher likelihood of malignancy.[80] In select cases, transrectal ultrasound can be beneficial, particularly in differentiating solid from cystic lesions and evaluating the tumor’s proximity to the rectum.[85]

The definitive role of biopsy in diagnosing RRTs remains a subject of debate. While biopsy is generally avoided for cystic lesions due to their high likelihood of benignity and potential for infection, image-guided tissue acquisition remains crucial for definitive diagnosis and treatment planning.[1,83] This is particularly true for specific tumor types such as Ewing sarcoma, osteogenic sarcoma, neurofibrosarcomas, and desmoid tumors, which benefit from neoadjuvant therapy.[86,87]

Precise surgical planning and meticulous execution are paramount, as highlighted by Balci et al. The extent of tumor invasion dictates resection levels, with abdominoperineal or sacral resection necessary in severe cases.[80] The efficacy of neoadjuvant therapy remains under debate, with conflicting results concerning its impact on surgical difficulty and overall outcome.[88] In specific cases, adjuvant radiotherapy or palliative chemotherapy can be considered.[80]

The limitations of this study were that many of the articles were confined to small case series and case studies which also meant that adequately comparing certain criteria such as surgical outcomes based on approach, for instance, was difficult owing to the lack of this information in many of the reviewed articles.

CONCLUSION

RRTs are rare tumors and most commonly congenital in nature with a predominance among the female sex. It is recommended that surgical management with R0 resection is crucial in the management of these tumors, and the minimal access surgery approach appears to be a safer option in appropriate case selection, having an association with shorter length of stay, lower recurrence rates, and shorter operative time.

Author’s contributions

Jeffrey Otote (J.O.), Valentin Butnari (V.B.), Praveen Ravichandran (P.R.), Ahmer Mansuri (A.M.), Mehnaz Ahmed (M.A.), Olivia Pestrin (O.P.), Nirooshun Rajendran (N.R.), Sandeep Kaul (S.K.). Conceptualization, S.K. and V.B.; methodology, J.O.; software, V.B.; validation, A.M., N.R. and S.K; formal analysis, V.B. and J.O.; investigation, J.O. and P.R.; resources, P.R. , O.P. and M.A. .; data curation, J.O., V.B., and P.R.; writing—original draft preparation, J.O.; writing— review and editing, V.B. , J.O. P.R; visualization, J.O., V.B., P.R, M.A. and O.P.; supervision, A.M. , N.R. and S.K.; project administration, V.B., A.M. , N.R. and S.K. All authors have read and agreed to the pub-lished version of the manuscript.

Ethical approval

The Institutional Review Board approval is not required.

Declaration of patient consent

Patient’s consent is not required as there are no patients in this study.

Conflicts of interest

There are no conflicts of interest.

Use of artificial intelligence (AI)-assisted technology for manuscript preparation

The authors confirm that there was no use of artificial intelligence (AI)-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.

Financial support and sponsorship

Nil.

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