Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8-year-old boy with history of embryonal rhabdomyosarcoma resected 2 years ago presented with abdominal pain and elevated pancreatic enzymes. Acute pancreatitis was diagnosed, and appropriate therapy was started. An FDG PET/CT scan revealed a hypermetabolic region in the pancreas suspicious for malignancy; however, the patient's condition improved after therapy. A repeat PET/CT scan performed 3 weeks later for recurrent symptoms showed interval disease progression, consistent with metastatic disease. Our case indicates that pancreatitis can accompany malignancy or be related to the obstruction caused by tumor, and patient's response to therapy for acute pancreatitis does not rule out malignancy.
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PMID:Metastatic embryonal rhabdomyosarcoma to the pancreas presenting as acute pancreatitis detected by FDG PET/CT. 2269 17

Extraosseous accumulation of bone-seeking agents is rare, but has been previously reported in pediatric sarcomas and neuroblastomas. We present an unusual case of a 5-month-old male with an abdominal mass observed clinically by his parents and referring pediatrician. Contrast abdominal computerized tomography confirmed the presence of a large pelvic mass that was diagnosed pathologically as embryonal rhabdomyosarcoma. A bone scintigraphy that was performed for staging of the disease revealed accumulation of the radiopharmaceutical in the tumor. There was no evidence for skeletal metastatic disease. This case further demonstrates the nonspecificity of soft-tissue tumor uptake on bone scintigraphy.
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PMID:Unusual Concentration of Tc-99m methylendiphosphonate in Rhabdomyosarcoma. 2337 86

The 5-year survival for localized rhabdomyosarcoma is over 70%, but only 30% for patients presenting with metastatic disease. In this issue of Cancer Cell, Chen and colleagues performed whole-genome and RNA sequencing on human rhabdomyosarcoma and identified RAS mutations and oxidative stress as potential therapeutic targets for high-risk embryonal rhabdomyosarcoma.
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PMID:RAS and ROS in rhabdomyosarcoma. 2433 40

Rhabdomyosarcoma is the most common type of soft tissue sarcoma in children. The authors present a rare case of eyelid rhabdomyosarcoma in a newborn, who was found to have a reddish eyelid tumor in his OD. A mass with a clear margin, confined to the upper eyelid, was revealed using orbital MRI. Intralesional steroids were injected under the impression of a capillary hemangioma and the tumor shrank initially, but grew rapidly later. Therefore, a debulking surgery was performed and the final diagnosis was embryonal rhabdomyosarcoma. After the operation, metastases still occurred despite the treatment with chemotherapy and concurrent radiation. The patient expired at 6 months of age. In an autopsy, a neuroblastoma was incidentally found in his left adrenal gland. Early biopsy may help lead to an early correct diagnosis and avoid metastases in similar cases.
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PMID:Congenital Eyelid Rhabdomyosarcoma. 2521 97

Sentinel lymph node biopsy (SLNB) is an established staging technique in many malignancies, but reports describing this procedure for the evaluation of regional lymph nodes in childhood and adolescents are still scarce. SLNB has progressively gained a role in the staging of pediatric melanoma and some histotypes among soft tissue sarcomas (rhabdomyosarcoma, synovial sarcoma, epithelioid sarcoma, and clear cell sarcoma). We report our experience with 29 patients who were evaluated with SLNB during the past 12 years: 9 alveolar rhabdomyosarcoma, 1 embryonal rhabdomyosarcoma, 7 Ewing Sarcoma/pPNET, 1 clear cells sarcoma, 2 epithelioid sarcoma, 1 epithelioid sclerosing fibrosarcoma, 3 myxoid liposarcoma, 1 adult fibrosarcoma, 1 malignant peripheral nerve sheath tumor, 1 undifferentiated sarcoma, 1 sarcoma not otherwise specified, and 1 melanoma. All, but one, patients underwent a lymphoscintigraphy, and in more than half of the patients, an intraoperative lymphatic mapping with a blue dye injection was performed. In our experience, SLNB was a feasible and reliable technique that allowed a targeted sampling of regional lymph nodes. This technique avoids aggressive operations or random biopsies, leading to an accurate staging without complications. Recently new imaging techniques, such as positron emission tomography-computed tomography scan, have obtained good results in identifying distant and lymphatic metastases, but they have been found to be less reliable than SLNB, especially for small volume metastatic nodal disease in sarcoma.
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PMID:Sentinel node biopsy in pediatric patients: the experience in a single institution. 2547 65

A 17-month-old girl with no medical history presented at our emergency room with abnormal vaginal bleeding and vaginal tissue loss with a "grape bunch" appearance. Physical examination showed no abnormalities, but gynaecological examination showed abnormal vaginal tissue protruding through the vagina introitus. Given the typical clinical presentation, the age of the girl and the location and aspect of the lesion, there was a high suspicion of the botryoid variant of embryonal rhabdomyosarcoma of the vagina. Histology of a biopsy of the lesion was consistent with embryonal rhabdomyosarcoma. As no metastases were detected, the girl received chemotherapy. This case report describes the importance of early recognition of the typical clinical symptoms of sarcoma botryoides, since a rapid diagnosis followed by treatment is necessary to prevent death.
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PMID:Sarcoma botryoides in an infant. 2551 59

Embryonal rhabdomyosarcoma (ERMS) is the most common soft tissue cancer in children. The prognosis of patients with relapsed or metastatic disease remains poor. ERMS genomes show few recurrent mutations, suggesting that other molecular mechanisms such as epigenetic regulation might play a major role in driving ERMS tumor biology. In this study, we have demonstrated the diverse roles of histone deacetylases (HDACs) in the pathogenesis of ERMS by characterizing effects of HDAC inhibitors, trichostatin A (TSA) and suberoylanilide hydroxamic acid (SAHA; also known as vorinostat) in vitro and in vivo. TSA and SAHA suppress ERMS tumor growth and progression by inducing myogenic differentiation as well as reducing the self-renewal and migratory capacity of ERMS cells. Differential expression profiling and pathway analysis revealed downregulation of key oncogenic pathways upon HDAC inhibitor treatment. By gain-of-function, loss-of-function, and chromatin immunoprecipitation (ChIP) studies, we show that Notch1- and EphrinB1-mediated pathways are regulated by HDACs to inhibit differentiation and enhance migratory capacity of ERMS cells, respectively. Our study demonstrates that aberrant HDAC activity plays a major role in ERMS pathogenesis. Druggable targets in the molecular pathways affected by HDAC inhibitors represent novel therapeutic options for ERMS patients.
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PMID:Histone Deacetylase Inhibitors Antagonize Distinct Pathways to Suppress Tumorigenesis of Embryonal Rhabdomyosarcoma. 2663 78

Objectives Literature detailing factors affecting survival in sinonasal rhabdomyosarcoma (SNRMS) is limited due to its rarity. We analyze the demographics, potential prognostic factors, overall survival, and treatment efficacy of SNRMS. Study Design and Setting Administrative database study. Methods SNRMS was queried in the SEER database (1973-2013; Surveillance, Epidemiology, and End Results). Data were analyzed for demographic and clinicopathologic trends. Kaplan-Meier model was utilized for assessing survival. Results A total of 286 cases of SNRMS were identified. The median age at diagnosis was 24.5 years, and the mean tumor size was 5.1 cm. Overall 5-, 10-, and 20-year disease-specific survival was 35.1%, 25.4%, and 12.0%, respectively. Regional lymph node involvement was present at diagnosis in more than half of cases (54.3%) and distant metastasis in 32.2% of cases. Alveolar rhabdomyosarcoma (54.9%) and embryonal rhabdomyosarcoma (23.8%) were the primary histologies. Alveolar-type SNRMS was more likely than the embryonal type to metastasize to distant sites (41.7% vs 24.1%), and it possessed poorer 5-year survival (29.2% vs 45.6%). Distant metastasis decreased 5-year survival from 35.1% to 3.8%, whereas lymph node involvement did not significantly affect survival. Patients <10 years old had the highest survival rates. Primary tumor origin by subsite did not significantly affect survival. Smaller tumor sizes and earlier Intergroup Rhabdomyosarcoma Study Group stages were associated with improved outcomes. Surgical therapy had the highest survival rates. Conclusion SNRMS has overall poorer prognosis than all other parameningeal rhabdomyosarcomas studied. Age <10 years, smaller tumor sizes, lack of distant metastasis, localized tumors, earlier Intergroup Rhabdomyosarcoma Study Group stages, and embryonal histology were all associated with improved outcomes.
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PMID:A Population-Based Analysis of Survival for Sinonasal Rhabdomyosarcoma. 2839 40

Primary intracranial rhabdomyosarcoma (PIRMS) is a rare neoplasm, which affects infants and young children. We report a rare case of a primary embryonal rhabdomyosarcoma of the cerebellopontine angle in a 7-year-old boy with clinical and radiological features mimicking a vestibular schwannoma. The patient underwent definitive surgery and radiotherapy and is recurrence free at 6 months. PIRMS commonly occur in parameningeal locations or metastasize to the brain from an extracranial primary. Gross total tumor resection followed by adjuvant radiotherapy remains the current standard of treatment; however, chemotherapy has also been tried with favorable results. The overall prognosis continues to remain poor.
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PMID:Primary intracranial rhabdomyosarcoma of the cerebellopontine angle mimicking a vestibular schwannoma in a child. 2841 50

A 32-year-old man visited our hospital due to urinary retention. Prostate-specific antigen was 13.7 ng/mL. Imaging examinations showed a large prostatic tumor and lung and internal iliac lymph node metastases. Transrectal biopsy confirmed embryonal rhabdomyosarcoma of the prostate classified as cT2bN1M1 (stage IV) by the International Rhabdomyosarcoma Study (IRS) Group staging system. Systemic chemotherapy was started according to the IRS III regimen 36, which consisted of 16 weeks of induction chemotherapy with radiation. After 20 weeks, magnetic resonance imaging showed the disappearance of metastases, and the prostate tumor shrunk markedly. Moreover, prostatic re-biopsy showed no viable tumor cells. Maintenance chemotherapy, excluding vincristine because of severe peripheral nerve disorder, was performed for 2 years. There has been no recurrence for 49 months after the termination of maintenance chemotherapy. To the best of our knowledge, this is the longest surviving case of adult-onset metastatic rhabdomyosarcoma of the prostate reported in the literature.
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PMID:A Case of Adult Metastatic Rhabdomyosarcoma of the Prostate Cured by Long-Term Chemotherapy with Local Radiation. 2842 78


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