Rhabdomyosarcoma , or RMS , is an aggressive and highly malignant form of cancer that develops from skeletal striated muscle cells that have failed to fully differentiate. It is generally considered to be a disease of childhood, as the vast majority of cases occur in those below the age of RMS can occur in any site on the body, but is primarily found in the head, neck, orbit, genitourinary tract, genitals, and extremities. There are no clear risk factors for RMS, but the disease has been associated with some congenital abnormalities. Common site of metastasis include the lungs, bone marrow, and bones.
|Published (Last):||8 December 2013|
|PDF File Size:||16.90 Mb|
|ePub File Size:||13.91 Mb|
|Price:||Free* [*Free Regsitration Required]|
Rhabdomyosarcoma , or RMS , is an aggressive and highly malignant form of cancer that develops from skeletal striated muscle cells that have failed to fully differentiate. It is generally considered to be a disease of childhood, as the vast majority of cases occur in those below the age of RMS can occur in any site on the body, but is primarily found in the head, neck, orbit, genitourinary tract, genitals, and extremities.
There are no clear risk factors for RMS, but the disease has been associated with some congenital abnormalities. Common site of metastasis include the lungs, bone marrow, and bones. Treatment usually involves a combination of surgery, chemotherapy, and radiation.
Given the difficulty in diagnosing rhabdomyosarcoma, definitive classification of subsets has proven difficult. As a result, classification systems vary by institute and organization. However, rhabdomyosarcoma can be generally divided into three histological subsets:.
This subtype has characteristic histology involving hyaline sclerosis and pseudovascular development. Its origins are unclear, but some studies have pointed to an association with embryonal RMS. Multiple classification systems have been proposed for guiding management and treatment, and the most recent and widely used classification system is the "International Classification of Rhabdomyosarcoma" or ICR. Pleomorphic rhabdomyosarcoma usually occurs in adults rather than children, and is therefore not included in this system.
Sclerosing rhabdomyosarcoma is also not included in this system due to its rare presentation and weak classification schema. Tumors that arise in the retroperitoneum and mediastinum can become quite large before producing signs and symptoms.
Parameningeal tumors may present with cranial nerve dysfunction, symptoms of sinusitis, ear discharge, headaches, and facial pain. Orbital tumors often present with orbital swelling and proptosis. Extremity tumors generally present as a rapidly enlarging, firm mass in the relevant tissue. The cancer's prevalence in the head, face, and neck will often allow for earlier signs of the disease simply due to the obvious nature of tumors in these locations. There are multiple genetic lesions associated with rhabdomyosarcoma, but there has been little consistent data demonstrating an association between specific genetic abnormalities and outcome.
However, alveolar and embryonal types of RMS can be distinguished cytogenetically, and identification of specific genetic lesions can allow for accurate classification of the ARMS subtype when the histopathological findings are equivocal or unclear. This is valuable for clinical practice as the alveolar type presents a higher risk to the patient and will often require more aggressive treatment than the embryonal type.
However, the specific consequences of this LOH at p11, The short arm of chromosome 11 is also the site of the insulin-like growth factor 2 gene IGF-2 , which is often over-expressed in RMS.
Other oncogenes often associated with rhabdomyosarcoma, albeit with less frequency, include N - myc , N - ras , K -ras, p 16, and c- Met. Rhabdomyosarcoma is often difficult to diagnose due to its similarities to other cancers and varying levels of differentiation. Other cancers that share this classification include neuroblastoma, Ewing sarcoma, and lymphoma, and a diagnosis of RMS requires confident elimination of these morphologically similar diseases. Accurate diagnosis is usually accomplished through immunohistochemical staining for muscle-specific proteins such as myogenin , muscle-specific actin , desmin , D-myosin , and myoD1.
The alveolar type of RMS tends to have stronger muscle-specific protein staining. Electron microscopy may also aid in diagnosis, with the presence of actin and myosin or Z bands pointing to a positive diagnosis of RMS. Open biopsy is usually required to obtain sufficient tissue for accurate diagnosis.
All findings must be considered in context, as no one trait is a definitive indicator for RMS. Following diagnosis and histopathological analysis, the patient will usually undergo magnetic resonance imaging MRI , ultrasonography , and a bone scan in order to determine the extent of local invasion and metastasis.
Further investigational techniques may be necessary depending on tumor sites. A parameningeal presentation of RMS will often require a lumbar puncture to rule out metastasis to the meninges. A paratesticular presentation will often require an abdominal CT to rule out local lymph node involvement, and so on.
Patient outcomes are most strongly tied to the extent of the disease, so it is important to map its presence in the body as soon as possible in order to decide on a treatment plan.
The current staging system for rhabdomyosarcoma is unusual relative to most cancers. In addition, patients are sorted by clinical group from the clinical groups from the IRSG studies based on the success of their first surgical resection. Treatment of rhabdomyosarcoma is a multidisciplinary practice involving the use of surgery, chemotherapy, radiation, and possibly immunotherapy. Surgery is generally the first step in a combined therapeutic approach.
Resectability varies depending on tumor site, and RMS often presents in sites that don't allow for full surgical resection without significant morbidity and loss of function.
In fact, multi-agent chemotherapy is indicated for all patients with rhabdomyosarcoma. There are two main methods of chemotherapy treatment for RMS. There is the VAC regimen , consisting of vincristine , actinomycin D , and cyclophosphamide , and the IVA regimen, consisting of ifosfamide , vincristine, and actinomycin D. These drugs are administered in 9—15 cycles depending on the staging of the disease and other therapies used.
Radiation therapy , which kill cancer cells with focused doses of radiation, is often indicated in the treatment of rhabdomyosarcoma, and the exclusion of this treatment from disease management has been shown to increase recurrence rates. Radiation therapy is used when resecting the entirety of the tumor would involve disfigurement or loss of important organs eye, bladder, etc.
Generally, in any case where a lack of complete resection is suspected, radiation therapy is indicated. The exception to this schedule is the presence of parameningeal tumors that have invaded the brain, spinal cord, or skull. In these cases radiation treatment is started immediately. This reduces scattering and the degree of late toxicity following dosing. Immunotherapy is a more recent treatment modality that is still in development. This method involves recruiting and training the patient's immune system to target the cancer cells.
This can be accomplished through administering small molecules designed to pull immune cells towards the tumors, taking immune cells pulled from the patient and training to attack tumors through presentation with tumor antigen, or other experimental methods. A specific example here would be presenting some of the patient's dendritic cells, which direct the immune system to foreign cells, with the PAX3-FKHR fusion protein in order to focus the patient's immune system to the malignant RMS cells.
All cancers, including rhabdomyosarcoma, could potentially benefit from this new, immune-based approach. Prognosis in rhabdomyosarcoma patients has been shown to be dependent on age, tumor site, resectability of tumor, tumor size, regional lymph node involvement , presence of metastasis, site and extent of metastasis, and biological and histopathological characteristics of the tumor cells. Rhabdomyosarcoma is the most common soft-tissue sarcoma in children as well as the third most common solid tumor in children.
Recent estimates place the incidence of the disease at approximately 4. In addition, slightly lower prevalence of the disease has been reported in black and Asian children relative to white children. It tends to occur sporadically with no obvious cause. However, RMS has been correlated with familial cancer syndromes and congenital abnormalities including neurofibromatosis type 1 ,  Beckwith-Wiedemann syndrome ,   Li—Fraumeni syndrome ,  cardio-facio-cutaneous syndrome ,  and Costello syndrome.
Rhabdomyosarcoma was first described by Weber, a German physician, in ,  but it wasn't until the paper by Arthur Stout in that RMS was formally classified. Cancer stem cells of rhabdomyosarcoma have been identified and fibroblast growth factor receptor 3 has been suggested as their marker. Preclinical animal studies that try to use conditionally replicating adenoviruses against such cells are in progress. A recent study by Bharathy et al. From Wikipedia, the free encyclopedia. Rhabdomyosarcoma Non-contrast computed tomography of head showing a large mass without any intracranial extension.
The diagnosis was postauricular congenital alveolar rhabdomyosarcoma. Specialty Oncology Rhabdomyosarcoma , or RMS , is an aggressive and highly malignant form of cancer that develops from skeletal striated muscle cells that have failed to fully differentiate. The New England Journal of Medicine.
A final report". Journal of Clinical Oncology. Medical and Pediatric Oncology. Pathologic aspects and proposal for a new classification--an Intergroup Rhabdomyosarcoma Study". Pediatric and Developmental Pathology. FPrime Rep. Holland-Frei Cancer Medicine 6th ed. Journal of Pediatric Surgery. The American Journal of Surgical Pathology. Cancer Research. Nature Genetics. Cancer Discovery. Bibcode : Natur.
The Journal of Biological Chemistry. Science Translational Medicine. The Oncologist. A study of cases, with emphasis on spindle cell mimics". Modern Pathology. Children's Cancer Study Group. Pediatric Oncology Group". Cancer Investigation. Cochrane Database of Systematic Reviews. A report from the Intergroup Rhabdomyosarcoma Study". Principles and practice of pediatric oncology. Philadelphia: Lippincott-Raven. British Journal of Cancer. Paediatric and Perinatal Epidemiology.
[Transformation of Teratoma in Rabdomiosarcoma]
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents. The median age of diagnosis is 5 years. Rhabdomyosarcoma can develop anywhere in the body, including in sites where striated muscle does not normally occur.
What Is Rhabdomyosarcoma?
Rhabdomyosarcoma RMS is a malignant tumor with skeletal muscle cell morphology. It is one of the tumors of muscular origin. This article focuses on a general discussion of rhabdomyosarcomas. For location specific details, please refer to:.
Continual improvements in survival have been achieved for children and adolescents with cancer. Childhood and adolescent cancer survivors require close monitoring because side effects of cancer and its therapy may persist or develop months or years after treatment. Refer to the PDQ summary on Late Effects of Treatment for Childhood Cancer for specific information about the incidence, type, and monitoring of late effects in childhood and adolescent cancer survivors. Childhood rhabdomyosarcoma is a soft tissue malignant tumor of mesenchymal origin. It accounts for approximately 3.
Childhood Rhabdomyosarcoma Treatment (PDQ®)–Health Professional Version
Teratomas are malign germ cell tumors composed of two or more tissue layers. When there is specific organ differentiation they are called mature teratoma. They rarely grow aggressively. We report the case of a 29 year-old man with a diagnosis of gonadal germ cell tumor whose evolution was unfavorable owing to transformation into a different phenotype corresponding to a rhabdomyosarcoma.