A rare presentation of a bilateral intracranial parameningeal embryonal rhabdomyosarcoma mimicking vestibular schwannoma in a two-year-old child: a case report.

Intracranial parameningeal rhabdomyosarcomas are rare, aggressive, rapidly progressive paediatric malignancies that carry a poor prognosis. The authors report a case of a 2-year-old boy who initially presented with a left facial palsy, ataxia and, shortly after, bloody otorrhoea. MRI imaging was initially suggestive of a vestibular schwannoma. However, there was rapid progression of symptoms and further MRI imaging showed very rapid increase in tumour size with mass effect and development of a similar tumour on the contralateral side. A histological diagnosis of bilateral parameningeal embryonal rhabdomyosarcoma was made. Despite treatment, progression led to hydrocephalus and diffuse leptomeningeal disease, from which the patient did not survive. Few intracranial parameningeal rhabdomyosarcomas have previously been reported and these report similar presenting symptoms and rapid disease progression. However, this is the first reported case of a bilateral intracranial parameningeal embryonal rhabdomyosarcoma which, on initial presentation and imaging, appeared to mimic a vestibular schwannoma.

Diagnosis and Treatment of Rare Adult Embryonal Rhabdomyosarcoma in Maxillary Sinus.

OBJECTIVE: To investigate the clinicopathological features, imaging features, diagnosis, and prognosis of embryonal rhabdomyosarcoma (ERMS) in the maxillary sinus. METHODS: The detailed clinical data of rare patients with embryonal ERMS of maxillary sinus admitted to our hospital were retrospectively analyzed, and the embryonal ERMS was confirmed by pathological examination and immunohistochemistry, and the relevant literature was reviewed. RESULTS: A 58-year-old man was admitted to the hospital with the chief complaint of "numbness and swelling of the left cheek for 1 and a half months". Blood routine, biochemistry, paranasal sinus computed tomography, and magnetic resonance imaging were performed after admission, and the pathology showed ERMS. At present, it is generally in good condition. Pathological examination showed that the cells were all small and round. Immunohistochemistry showed Desmin (+) and Ki-67 (+70%). CONCLUSION: The early symptoms of ERMS of the maxillary sinus are atypical and diverse, with a high degree of malignancy, rapid progression, strong invasiveness, and poor prognosis. Early diagnosis and treatment should be based on clinical characteristics, imaging examination, and immunohistochemical results.

Metastatic embryonal rhabdomyosarcoma of the breast: A case report and literature review.

Rhabdomyosarcoma (RMS) is a common malignancy in children, but embryonal rhabdomyosarcoma (ERMS) deposits rarely occur in the breast in adults. Therefore, little is known about magnetic resonance imaging (MRI) features of breast metastases from RMS, especially the embryonal type. We reported a case of a 22-year-old woman who was diagnosed with ERMS at left foot 2 years ago and accepted operation and chemotherapy. She was confirmed to have breast metastases from the left foot. Successive imaging examinations were performed 3 months apart. Breast ultrasound indicated a benign lesion, and further examination did not reveal any bone metastases. However, predominant restricted diffusion and rim contrast enhancement on MRI combined with the patient's medical history suggested a malignancy of BI-RADS 5. After 3 months, breast ultrasound revealed masses detected last time became larger and lobulated. In addition, internal heterogeneous intensity and rim contrast enhancement with restricted diffusion were revealed on MRI. We speculated that typical MRI findings of breast metastases from RMS may include iso- to hypointensity on T1WI, heterogeneous hyperintensity on T2WI, and circular enhancement with restricted diffusion. Moreover, mild peritumoral edema, rapid expansion of necrosis, and ascending time-intensity curve detected on MRI may be features of the ERMS type.

18F-FDG PET/CT is useful in initial staging, restaging for pediatric rhabdomyosarcoma.

BACKGROUND: This study aimed to evaluate 18F-fluordeoxyglucose (18F-FDG) positron emission tomography (PET)/computed tomography (CT) as an adjunct to CT and/or magnetic resonance imaging (MRI) in the staging and follow-up of pediatric rhabdomyosarcoma (RMS). METHODS: A total of 28 consecutive pediatric RMS (20 males, 8 females; mean age: 4.8 years, 10 embryonal, 18 alveolar), in whom FDG PET/CT was performed at staging (13 patients), to evaluate the therapeutic effects and to follow-up (15 patients), were retrospectively included. FDG PET/CT was compared with MRI or CT performed with a less than a 10-day interval for initial staging in 13 patients. Histological data and follow-up (mean, 18 months) were considered as the standard of reference for result interpretation. RESULTS: At staging, FDG PET/CT and CT/MRI were equally effective in the detection of the primary RMS (accuracy, 100%). FDG PET/CT revealed metastases in lymph nodes, prostate, intestinal wall, chest wall and the peritoneum in 5 patients missed by CT or MRI, and found 41positive lymph node territories in 6 patients, 8 lung metastases in 3 patients and 40 lesions located in other anatomical regions (muscle, brain, etc.) in 4 patients versus 16, 6, and 29 for CT or MRI. In 4 patients (31%), modifications were made and comprised 1 local therapy change and 3 changes of systemic treatment as well. Follow-up time ranged from 3 to 48 months, with a median follow-up time of 18 months in 15 patients for evaluation of therapeutic effects. Alveolar RMS (ARMS) had significantly high SUVmax, and more metastases was found in ARMS. CONCLUSIONS: 18F-FDG PET/CT may be useful in staging and restaging pediatric RMS, especially for assessing secondary lesions with potential therapeutic strategy alteration. The significant high SUVmax of ARMS and more metastases may indicate worse prognosis which needs further study. This study confirms that 18F-FDG PET/CT is also valuable in therapeutic assessment and follow-up.

The prognostic value of early radiographic response in children and adolescents with embryonal rhabdomyosarcoma stage IV, metastases confined to the lungs: A report from the Cooperative Weichteilsarkom Studiengruppe (CWS).

BACKGROUND: Patients with metastatic rhabdomyosarcoma (RMS) have a poor prognosis apart from children with embryonal RMS whose metastases are confined to the lungs (PRME). The prognostic significance of response in patients with metastatic disease is still unknown and optimal treatment remains to be defined. METHODS: Patient-, tumor- and treatment-related factors of patients with PRME treated on multiple prospective trials of the Cooperative Weichteilsarkom Studiengruppe (CWS) (1981-2013) were analyzed with a focus on response to induction chemotherapy. Response at week 7-10 was based on anatomic imaging and determined (1) for the primary tumor as complete response (CR), good response (GR), partial response (PR) and no response (NR) and (2) for pulmonary metastases as either complete lack of residual lesions (pCR) or no complete response (no-pCR). Event-free (EFS) and overall survival (OS) were the endpoints. RESULTS: EFS and OS of all 53 eligible patients was 41% (±13 confidence interval [CI] 95%) and 52% (±11 CI 95%), respectively. pCR at week 7-10 and maintenance therapy (MT) were favorable prognostic factors. Interestingly, response of primary tumor at week 7-10 and number of metastases were not prognostic factors. The 5-year OS was 68% (±18 CI 95%) for 26 patients in pCR, but only 36% (±18 CI 95%) for 27 patients not in pCR at week 7-10 (P = 0.004) despite achieving pCR under continuation of chemotherapy or local therapy. CONCLUSION: Achievement of pCR at week 7-10 by induction chemotherapy is a prognostic factor.

Neoadjuvant Intraarterial Chemotherapy for Treatment of Malignant Vaginal Tumors in Children: A Single-Center Experience.

Six patients (aged 3-36 mo) with vaginal tumors (rhabdomyosarcoma and endodermal sinus tumor [EST]; n = 3 each) received intraarterial chemotherapy (IAC) and intravenous chemotherapy. Patients underwent internal iliac artery infusion with cisplatin, pirarubicin, and vindesine. Intravenous chemotherapy with vindesine, ifosfamide, and etoposide was administered after 3 weeks. Vaginal tumors disappeared in all patients after 2 or 3 cycles of alternating therapy. Two patients underwent resection of pelvic metastases. Intravenous consolidation chemotherapy was applied. Four patients were disease-free at a median follow-up of 5.8 years. One patient had pelvic recurrence treated with "salvage" therapy with IAC and surgery and was disease-free for 2.5 years.

[Clinical and imaging features of abdominal rhabdomyosarcoma of non-organ origin in children].

Objective: To evaluate the clinical and imaging features of abdominal rhabdomyosarcoma of non-organ origin in children. Methods: We retrospectively analyzed the clinical and imaging features of 12 pediatric patients with abdominal rhabdomyosarcoma confirmed by surgery and pathology at our hospital. Results: There were 9 boys and 3 girls, with an average age of (5.47±3.92) years old (range, 1 to 15). According to Intergroup Rhabdomyosarcoma Study (IRS) staging system, they were of stage Ⅲ to stage Ⅳ, and most were of embryonal type. Tumors of 7 cases were located in the pelvic cavity, 2 cases in the abdominal cavity, 1 in the retroperitoneal space, 1 in both the abdominal and pelvic cavities and 1 across the retroperitoneal space, and abdominal and pelvic cavities. Gray-scale ultrasound showed moderate inhomogeneous echo structure and color Doppler flow imaging showed rich blood flow signals. CT plain scan showed masses of iso- or low-density, and the contrast-enhanced scan showed lesions with inhomogeneous enhancement. The enhancement in delay scan was more obvious and the peripheral enhancement was more significant than central enhancement. Conclusions: Childhood abdominal rhabdomyosarcoma of non-organ origin may arise from the peritoneum, be commonly seen in boys younger than 10 years old, more likely located in the pelvic cavity, and embryonal rhabdomyosarcoma is the most common histological variant seen in childhood. Ultrasound and CT imaging can provide useful information for diagnosis and differential diagnosis of this tumor.

Childhood rhabdomyosarcoma. / Rabdomiosarcoma infantil.

Rhabdomyosarcoma is the most common soft-tissue sarcoma in children; it can appear in any part of the body. Its biological behavior varies widely, and despite the absence of specific clinical or radiological characteristics, rhabdomyosarcoma should be taken into account in the differential diagnosis of solid tumors in children. This review focuses primarily on the imaging findings and anatomical distribution of the histological subtypes of childhood rhabdomyosarcoma and secondarily on the differential findings in histological studies.

A fast-growing, painless, solid scrotal mass.

The history and physical examination of an adolescent male are critical to early detection of scrotal abnormalities. Although rare, paratesticular rhabdomyosarcoma grows quickly and can be life-threatening. This article focuses on the importance of prompt recognition, diagnosis, and appropriate management of paratesticular rhabdomyosarcoma in an adolescent.

Radiological features of multifocal embryonal rhabdomyosarcoma affecting the vagina and the urinary bladder in a pediatric patient.

Rhabdomyosarcomas are the most common soft-tissue sarcomas, found usually in the younger age group. Histologically, they are subdivided into embryonal, alveolar, pleomorphic and not otherwise specified. They have a heterogenous appearance on imaging with few additional characteristic features based on the subtype. Botryoid variant of embryonal rhabdomyosarcoma commonly involves the genitourinary and the biliary system. They can be multifocal. Most of these lesions have a heterogenous appearance on imaging with areas of necrosis and haemorrhage. On ultrasound, they are polypoidal with cystic areas and are vascular. The lesions are hyperintense on T2 sequences, isointense to the skeletal muscle on T1 sequences and show heterogenous enhancement. Surgery is the mainstay of treatment along with radiotherapy or chemotherapy depending on the site and the stage of the tumour. We report a case of botryoid variant of rhabdomyosarcoma involving the vagina and the urinary bladder.

Embryonal rhabdomyosarcoma arising from a mediastinal teratoma: an unusual case report.

We report an unusual case of 9.5-cm-sized embryonal rhabdomyosarcoma arose from a mediastinal mature teratoma in a 46-yr-old man. A man presented with chest trauma as a result of an accident at 10 September 2011. On chest X-ray, an anterior mediastinal mass was detected. To obtain further information, chest computed tomography (CT) with contrast enhancement was performed, revealing an anterior mediastinal mass. Complete surgical excision was performed and entire specimen was evaluated. Pathologic diagnosis was embryonal rhabdomyosarcoma arising in mature cystic teratoma. After surgical excision, two cycles of dactinomycin-based chemotherapy were performed. Lung metastasis was detected on follow up CT in September 2012, and wedge resection was performed. Pathological finding of the lung lesion showed same feature with that of primary rhabdomyosarcoma.

Embryonal rhabdomyosarcoma of the uterine cervix.

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Magnetic resonance imaging analysis of embryonal rhabdomyosarcoma of the prostate.

BACKGROUND: Rhabdomyosarcoma (RMS) is a highly malignant tumor that originates from myogenic progenitor cells. OBJECTIVE: To investigate the magnetic resonance imaging (MRI) characteristics of prostate embryonal rhabdomyosarcoma (ERMS). METHODS: We retrospectively analyzed the clinical and MRI imaging data of 9 cases of prostate ERMS that were confirmed pathologically. The patients were aged between 14∼49 years with a median age of 27 years, and they all underwent MRI, diffusion-weighted imaging (DWI), and dynamic contrast-enhanced MRI (DCE-MRI). RESULTS: The MRI scan of the lesions showed an irregular shape, mixed signals, uneven equal/long T1 signal and an equal/long T2 signal, cystic necrosis in 9 cases and hemorrhage in 6 cases; DWI and ADC images showed a mixed high/low signal, and the tumor parenchyma showed ADC low signal, with an average ADC value of 0.666 × 10-3 mm2/s. There were 5 cases of DCE-MRI TIC type II and 4 cases of DCE-MRI TIC type I. The average value of Tpeak was 120 s and the average value of MCER was 172.3%. After the enhancement, the signal of tumor enhancement was uneven, and showed patchy and reticular enhancement, however, the cyst degeneration, necrosis area, and hemorrhage focus were not enhanced. There were 3 cases with multiple pelvic lymph nodes and 1 case with multiple bone metastases. CONCLUSION: The MRI manifestations of prostate ERMS have certain characteristics, and the combination of DWI and DCE-MRI are helpful in the diagnosis.

Hyperostosis in orbital rhabdomyosarcoma.

Rhabdomyosarcoma is the most common soft-tissue sarcoma in paediatric patients and may arise as a primary orbital neoplasm. Imaging studies show a unilateral solitary orbital lesion. With larger tumours, erosion of the adjacent orbital walls is a common accompanying bony change. We present an unusual case of rhabdomyosarcoma in a preschool girl with proptosis and temporal bossing. Imaging studies showed a homogeneous, well-delineated, extraconal mass of the right orbit with hyperostosis of the adjacent sphenoid bone. After excision of the mass and debulking of the sphenoid bone, histopathology showed embryonal rhabdomyosarcoma with no malignant infiltration of the adjacent bone. This is the first reported case of hyperostosis associated with rhabdomyosarcoma. Periosteal reaction is the proposed underlying mechanism.

Embryonal rhabdomyosarcoma of the tunica dartos in the scrotum.

We report 2 cases of embryonal rhabdomyosarcoma, a rare malignant tumor, arising from the tunica dartos in the scrotum. Sonography revealed that each tumor had clear boundaries, a complete capsule, abundant blood flow, and an internal hypoechoic signal. Patients with embryonal rhabdomyosarcoma who have suspected lymph node metastases or distant metastatic lesions should undergo computed tomography. Our 2 cases were confirmed by subsequent histopathologic diagnosis and immunohistochemical staining with desmin and myogenin. The 2 patients were treated surgically with radical excisions and chemotherapy but without radiotherapy. To our knowledge, no cases of embryonal rhabdomyosarcoma originating from the scrotal tunica dartos have previously been reported in the medical literature.

Primary renal embryonal rhabdomyosarcoma in an adult patient.

Adult renal rhabdomyosarcoma (RMS) is a rare and aggressive entity with a paucity of data and reports in the literature. As a result, treatment guidelines for this malignancy are not well-established. Herein, we present the diagnosis, management and clinical course of a 39-year-old patient diagnosed with primary renal embryonal RMS (ERMS) following radical nephrectomy. We also review the existing literature on primary renal ERMS.

Dose-Effect Analysis of Early Changes in Orbital Bone Morphology After Radiation Therapy for Rhabdomyosarcoma.

PURPOSE: In survivors of orbital embryonal rhabdomyosarcoma (ERMS), late effects include facial deformation and asymmetry. We sought to quantify orbital asymmetry in ERMS survivors and characterize the dose effect of radiation to the orbital bones. METHODS AND MATERIALS: We evaluated the most recent follow-up magnetic resonance imaging (MRI) in 17 children (≤21 years old) with stage 1 group III orbital ERMS treated with proton therapy between 2007 and 2018. For all patients, the orbital socket volumes were calculated and compared with the contralateral, unirradiated orbital socket. Patient age, orbital tumor quadrant, and the radiation dose delivered to the major orbital bones (maxillary, frontal, and zygomatic bones) were recorded and correlated with the orbital socket volume difference. RESULTS: The mean age at diagnosis was 5.4 years old (range, 1.1-9.7 years). All patients received a prescription dose of 45 GyRBE. The mean time interval between radiation and MRI was 2.9 years (range, 0.8-3.2 years). The mean age at most recent MRI was 8.4 years (range, 2.3-12.9 years). In 16 of 17 patients, the volume of the ipsilateral orbit was significantly smaller than the contralateral orbit on follow-up MRI (P ≤ .0001). In one patient with nonviable tumor in situ, the irradiated orbit was larger. The volume difference increased with follow-up time and did not correlate with age at treatment or age at MRI. A dose >40 GyRBE to all bones of the orbital rim was associated with a significant decrease in orbital volume (P < .05), but an isolated dose of >40 GyRBE to either the frontal, maxillary, or zygomatic bone was not. CONCLUSIONS: Despite the dosimetric precision of proton therapy, orbital asymmetry will develop after >40 GyRBE to multiple bones of the orbital rim. These data may be used to guide treatment planning and counsel patients on expected cosmesis.

Chemoradiotherapy-induced Cytodifferentiation in Bladder/Prostate Rhabdomyosarcoma With Genetic Downregulation of Myogenin and MyoD1 Gene Expression: A Case Study and Review of the Literature.

Rhabdomyosarcoma is the most common sarcoma diagnosed in childhood and adolescence, arising from the bladder/prostate in only 5%-10% of cases. Treatment-induced cytodifferention of tumor cells into mature rhabdomyoblasts has been reported following chemoradiation and is thought to suggest a more favorable outcome. We report a case of embryonal rhabdomyosarcoma of the bladder/prostate that exhibited extensive cytodifferentiation with downregulation of myogenin and MyoD1 gene expression in rhabdomyoblasts following treatment with chemoradiation therapy. The downregulation of myogenin and MyoD1 expression in rhabdomyoblasts following chemoradiation treatment has not previously been described in the literature and its significant remains uncertain.

Treatment strategies and outcomes for spinal rhabdomyosarcoma: A series of 11 cases in a single center and review of the literature.

OBJECTIVES: Rhabdomyosarcoma (RMS) involving the spine is rare. The aim of the present study is to explore the clinicopathological features, surgical treatments and outcomes of this rare disease. PATIENTS AND METHODS: Eleven patients with spinal RMS who received surgery in our institution between 2012 and 2018 were retrospectively investigated. The literature on spinal RMS was also reviewed. RESULTS: Our study consisted of 7 cases of primary RMS and 4 cases of metastatic RMS. Seven primary and one metastatic spinal RMS received radical resection, the remaining three metastatic patients received palliative resection. Eight patients died with a median survival time of 8 months. The mean value of Ki-67 positivity was 48.2 %. Literature review revealed a total of 22 previously reported cases. 54.5 % of the pooled cases of the 33 patients were under the age of 18. Of the 20 patients with primary spinal RMS, 9 cases were diagnosed as embryonal, while 6 of the 13 metastatic patients were diagnosed as alveolar. Multiple modalities, including surgery and concurrent adjuvant therapy were performed in 19 patients. The median overall survival (OS) for 28 patients with detailed follow-up information was 10 months. Radical resection offered a significant longer median OS than non-radical resection (18 vs. 6 months, p = 0.027). CONCLUSION: Spinal RMS mainly affects young patients. The embryonal form and alveolar form is the most frequent subtype for primary and metastatic spinal RMS respectively. Spinal RMS is highly aggressive with dismal prognosis. Multimodality therapies are the mainstay of treatment. Radical resection is strongly recommended in eligible patients.