Abstract
BackgroundPerianal/perineal rhabdomyosarcomas (PRMS) are easily misdiagnosed soft tissue tumours with a poor prognosis. This study was designed to analyze the clinical, diagnostic, pathological and prognostic features of PRMS, and to explore currently available therapeutic modalities.MethodsClinical data of PRMS patients admitted to the Sixth Affiliated Hospital and the Cancer Center of Sun Yat-sen University and from related Chinese literature published from 1987 to 2018 were collected and analyzed. The Chi-square test was used to evaluate the differences between each group. The Kaplan–Meier methods were applied to estimate and compare survival rates.ResultsA total of 35 patients were included in this study; 20 identified within related Chinese literatures and 15 from our center admitted during the period of 1997–2019. Out of these cases, 34 presented with perianal masses and the remaining one manifested as an inguinal mass. Moreover, 20 patients complained of pain and 16 of them were misdiagnosed as perianal abscesses, in which the presence of pain contributed to the misdiagnosis (p < 0.05). The average time interval between symptom onset and pathological diagnosis was 3.1 months. Next, 13 cases were classified into IRS group III/IV and 20 cases into stages 3/4. Additionally, 14 and 9 cases received the pathological diagnoses of embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma, respectively. Regarding the patients’ survival rates, five patients survived for more than 2 years, and three of them survived for more than 5 years. The overall 2 years and 5 years survival rates were 32% and 24%, respectively. The symptom of pain and misdiagnosis both contributed to the poor prognosis in these patients (p < 0.05). MRI showed that the PRMS were closely related to external anal sphincter in 10 cases.ConclusionPRMS are easily misdiagnosed lesions, which often leads to an unfavourable outcome in affected patients. Patients with painful perianal masses should be evaluated to exclude PRMS. MRI revealed that PRMS are closely related to the external anal sphincter. Multidisciplinary management is recommended in the treatment of PRMS.
Highlights
Perianal/perineal rhabdomyosarcomas (PRMS) are misdiagnosed soft tissue tumours with a poor prognosis
The most common presenting symptom was perianal/perineal mass, only one patient initially complained of an inguinal mass
Coronal, and axial T2 weighted high-resolution images of the pelvis, we found that the hyposignal of the external anal sphincter (EAS) is replaced by the tumour’s hypersignal in PRMS, causing a discontinuity of the anal sphincter complex
Summary
Perianal/perineal rhabdomyosarcomas (PRMS) are misdiagnosed soft tissue tumours with a poor prognosis. This study was designed to analyze the clinical, diagnostic, pathological and prognostic features of PRMS, and to explore currently available therapeutic modalities. Rhabdomyosarcomas (RMS) are common soft tissue malignancies, but primary perianal and perineal rhabdomyosarcomas (PRMS) are extremely rare, accounting for only 2% of all RMS [1]. PRMS are routinely misdiagnosed and mistreated, associated with a relatively high mortality rate. Guo et al BMC Surg (2021) 21:66 the clinical manifestations, imaging findings, pathologic and prognostic features of PRMS, as well as to explore the optimal therapeutic regimen for this condition
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