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.

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.

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.

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.

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.

Rabdomiossarcoma embrionário de colo uterino: relato de caso em adolescente / Embryonic rabdomyosarcoma of the cervix: case report in a teenager

O rabdomiossarcoma embrionário, variante botrioide, é uma neoplasia maligna dos tecidos moles que deriva de células musculares mesenquimais embrionárias. Alguns fatores de risco genéticos são conhecidos, mas a doença geralmente se apresenta de forma esporádica. É raro manifestar-se em adolescentes, assim como é raro ser primário do colo uterino. Cursa com a presença de pólipos e até massas que se sobressaem na vagina com casos de sangramento vaginal anormal. O diagnóstico é realizado essencialmente pela história e exame anatomopatológico. Quanto maior o tempo para confirmação do diagnóstico, pior o prognóstico. Há várias modalidades de tratamento ­ que deve ser individualizado e envolver uma equipe multidisciplinar ­, que, basicamente, incluem quimioterapia, radioterapia e cirurgia. Os resultados geralmente são menos favoráveis em adolescentes, quando comparados com os de crianças com a mesma neoplasia.(AU)

Embryonic rhabdomyosarcoma, a botryoid variant, is a malignant neoplasm of soft tissues that derives from embryonic mesenchymal muscle cells. Some genetic risk factors are known, but the disease usually presents itself sporadically. It's rarely manifested in adolescents, just as it is rare to be primary in the cervix. It occurs with the presence of polyps and even masses that protrude in the vagina with cases of abnormal vaginal bleeding. The diagnosis is made essentially by history and anatomopathological examination. The longer the time to confirm the diagnosis, the worse the prognosis. There are several treatment modalities ­ involving a multidisciplinary team ­ that must be individualized and basically include chemotherapy, radiotherapy and surgery. The results are generally less favorable in adolescents, when compared with those of children with the same neoplasia.(AU)

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.

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.

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.

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.

Case Report: Case report: A rare case of middle-ear Rhabdomyosarcoma in a 4-year-old boy.

We present a rare case of a four-year-old boy with a botyroid embryonal rhabdomyosarcoma of the right middle ear. Rhabdomyosarcoma is a soft tissue malignancy which is thought to originate from embryonic mesenchymal cells of striated skeletal muscle.  It is a disease primarily of children and is exceptionally rare in parameningeal regions.  The diagnosis is often delayed and easily misdiagnosed as aural polyp. Therefore, advanced disease is common at the time of diagnosis.  A four-year-old boy presented with a four-month history of recurrent left ear blood and pus discharge, otalgia and fevers. He attended his GP three times and paediatric A&E 13 times where he received antibiotics for presumed otitis media and externa. He was eventually referred to the otolaryngology department and underwent an examination under anaesthesia of ear and excisional biopsy of a suspicious aural polyp.  Staging chest CT and PET scan showed no loco-regional spread or distal metastasis. Magnetic resonance imaging demonstrated absence of invasion into adjacent organs.  Histology confirmed embryonal rhabdomyosarcoma, botryoid subtype.  Subsequent to the initial excision of the polyp, he was started on an ifosfamine, vincristine and actinomycin (IVA) chemotherapy regime in three weekly cycles for nine cycles with concomitant radiotherapy. Two weeks subsequent to his first chemotherapy dose he presented with a House-Brackmann II-III facial nerve palsy but no other middle ear complications. He was started on intravenous antibiotics and dexamethasone. The facial nerve palsy incompletely resolved with treatment.

Report of a bi-allelic truncating germline mutation in TP53.

The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation. The family history is consistent with Li-Fraumeni syndrome.

Embryonal rhabdomyosarcoma within abdomen and pelvis in an adult.

Rhabdomyosarcoma arising in abdomen and pelvis is an uncommon but important type of soft tissue sarcoma, posing a great challenge for clinicians. Sporadic cases of intra-abdominal rhabdomyosarcoma were reported, but mostly in pediatrics. We demonstrated a rare case of primary abdominopelvic rhabdomyosarcoma in an elderly woman who presented with a notable increase in abdominal circumference and constipation. Abdominal magnetic resonance imaging showed a huge mass throughout the abdomen and pelvis. Cytoreductive surgery was performed by gynecologists due to the suspicious diagnosis of disseminated leiomyosarcoma. However, the final pathological analysis revealed embryonal rhabdomyosarcoma. Although adjuvant chemotherapy was administered, localized recurrence was identified 6 months after the initial operation. Gynecologists and radiologists should be aware of it so it can be listed in the differential diagnosis of masses that primarily arise in the abdomen and pelvis.

Giant intrascrotal embryonal rhabdomyosarcoma in an adult: a case report and review of the literature.

BACKGROUND: Intrascrotal embryonal rhabdomyosarcoma in adults is a rare tumor with high aggression and a poor prognosis. We report our patient's case and review the relevant literature to improve the understanding of this rare disease. CASE PRESENTATION: A 21-year-old Han Chinese man presented to our hospital with a right intrascrotal mass of 1 year's duration. His physical examination revealed an enlarged right scrotum containing a huge tender mass measuring about 10 × 7 cm. Ordinary and contrast-enhanced ultrasonography showed a solid mass in the right scrotum, which was suspected to be a malignant tumor. An abdominopelvic computed tomographic scan revealed metastases in the retroperitoneal lymph nodes. The patient was diagnosed with malignant testicular tumor and underwent a right radical orchiectomy by an inguinal approach. Postoperative pathological examination suggested an intrascrotal embryonal rhabdomyosarcoma. CONCLUSIONS: Intrascrotal embryonal rhabdomyosarcoma is a rare but highly aggressive tumor. Clinical and imaging manifestations of this tumor are nonspecific, so the definitive diagnosis depends on postoperative pathology and immunohistochemistry. Early suspicion, radical orchiectomy, accurate pathologic diagnosis, and adjuvant chemotherapy and/or radiotherapy are the keys to optimal prognosis.

Embryonal rhabdomyosarcoma of urinary bladder in an adult patient: an unusual manifestation.

An adult man presented with off and on painless haematuria, which was diagnosed as bladder mass on contrast-enhanced CT. He underwent transurethral resection of bladder tumour with complete resection. A diagnosis of embryonal rhabdomyosarcoma was made following histopathology and immunohistochemistry report. The patient was planned for radical cystectomy but was found to have large recurrent infiltrating bladder mass with liver and bone metastasis. Hence, the plan for radical cystectomy was deferred and the patient was counselled regarding chemotherapy (vincristine, cisplatin and doxorubicin regime). The patient tolerated the first cycle of chemotherapy, but his condition deteriorated prior to the second cycle and the patient expired.

When Chemotherapy Is Not Enough-Management of Prostatic Embryonal Rhabdomyosarcoma in an Infant.

A baby boy was diagnosed with embryonal rhabdomyosarcoma causing left hydroureteronephrosis. A loop ureterostomy was performed, and the infant was treated per the RMS13 protocol. After 3 months of chemotherapy, the infant's tumor burden increased, and he underwent radical cystoprostatectomy and right-to-left transureteroureterostomy (end-to-end fashion utilizing the distal limb of his ureterostomy). This innovative method was utilized because the infant's tumor burden was too large to be treated effectively and safely with radiation. One year later, the infant has no evidence of disease. This demonstrates that optimal management of rhabdomyosarcoma is still unknown; therefore, each child warrants an individualized approach for optimal outcomes.

Mandibular embryonal rhabdomyosarcoma with cartilaginous metaplasia: report of a case and review of literature.

Rhabdomyosarcoma (RMS) is a malignant tumor of skeletal muscle origin and frequently involves the head and neck region. It represents the second most common pediatric soft tissue sarcoma and accounts for 3% of all childhood cancers. Here, we report a case of embryonal RMS presenting as a right-sided facial swelling in a 7-year-old boy. Histologically, the tumor consisted of classic embryonal rhabdosarcomatous areas with metaplastic cartilage, in both initial biopsy and final resection specimens. Cartilaginous metaplasia arising in the background of RMS is a rare finding, thus raising a diagnostic challenge. To the best of our knowledge, this represents the first case of RMS with cartilaginous metaplasia in the oral cavity.