Materiały źródłowe

• #1 Rhabdomyosarcoma: Symptoms, Prognosis & Treatment

  https://my.clevelandclinic.org/health/diseases/6226-rhabdomyosarcoma

  Rhabdomyosarcoma is a rare type of cancer known as soft tissue sarcoma. It develops in your skeletal muscles. Rhabdomyosarcoma mostly affects children and teenagers but can affect adults as well. Each year, between 400 and 500 people in the U.S. receive a diagnosis of rhabdomyosarcoma. […] A healthcare provider will ask about your or your child’s symptoms. They’ll also ask about your family medical history to learn if anyone has an inherited disorder that increases the risk of rhabdomyosarcoma. […] They’ll do a physical examination to look for symptoms like lumps or growths. Providers may do the following tests to diagnose rhabdomyosarcoma: Computed tomography (CT) scan or magnetic resonance imaging (MRI) scan, Positron emission tomography (PET) scan, Bone scan, Lumbar puncture, Bone marrow biopsy, Biopsy to obtain tissue samples, Immunohistochemistry, Cytology tests.

• #1 Rhabdomyosarcoma | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/rhabdomyosarcoma

  Rhabdomyosarcoma diagnosis usually begins with a physical exam. Based on the results, the healthcare team might recommend other tests. These may include imaging tests and a procedure to remove a sample of cells for testing. […] Imaging tests make pictures of the inside of the body. They might help show the location and size of a rhabdomyosarcoma. Tests might include: X-rays, CT scans, MRI scans, Positron emission tomography scans, also called PET scans, Bone scans. […] A biopsy is a procedure to remove a sample of tissue for testing in a lab. A biopsy for rhabdomyosarcoma needs to be done in a way that won’t cause problems with future surgery. For this reason, it’s a good idea to seek care at a medical center that sees many people with this type of cancer. Experienced healthcare teams will select the best type of biopsy.

• #2 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  Rhabdomyosarcoma (RMS) is a malignant soft tissue sarcoma that is believed to originate from primitive mesenchymal cells that typically differentiate into skeletal tissue. However, these tumors can also arise in other types of tissue and any anatomic area. RMS is the most common soft tissue sarcoma diagnosed in children; only 1% to 2% of these cancers are found in adults. […] The management approach is tailored to a patient’s risk stratification. Two systems are used to characterize risk stratification for RMS: the Clinical Group or the Stage. Each system uses different factors to categorize patients according to risk, and most authorities use both to determine the most appropriate therapeutic approach. […] Currently, treatment is multimodal, combining surgery, when feasible, to completely remove the primary tumor and chemotherapy to control disease spread, even if no evidence of metastasis is present on imaging because most patients have been found to have micrometastasis in studies.

• #2 Rhabdomyosarcoma: Symptoms, Prognosis & Treatment

  https://my.clevelandclinic.org/health/diseases/6226-rhabdomyosarcoma

  Rhabdomyosarcoma is a rare type of cancer known as soft tissue sarcoma. It develops in your skeletal muscles. Rhabdomyosarcoma mostly affects children and teenagers but can affect adults as well. Each year, between 400 and 500 people in the U.S. receive a diagnosis of rhabdomyosarcoma. […] A healthcare provider will ask about your or your child’s symptoms. They’ll also ask about your family medical history to learn if anyone has an inherited disorder that increases the risk of rhabdomyosarcoma. […] They’ll do a physical examination to look for symptoms like lumps or growths. Providers may do the following tests to diagnose rhabdomyosarcoma: Computed tomography (CT) scan or magnetic resonance imaging (MRI) scan, Positron emission tomography (PET) scan, Bone scan, Lumbar puncture, Bone marrow biopsy, Biopsy to obtain tissue samples, Immunohistochemistry, Cytology tests.

• #3 Diagnosis and treatment of rhabdomyosarcomas | Łomiak | Oncology in Clinical Practice

  https://journals.viamedica.pl/oncology_in_clinical_practice/article/view/86149

  Rhabdomyosarcoma (RMS) is a soft tissue sarcoma. The primary tumor is most commonly localized in the head and neck, the urogenital system, or the limbs. Classification by the World Health Organization has distinguished four histopathological RMS subtypes: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Differential diagnosis of RMS includes melanoma, malignant neoplasm of peripheral nerve sheaths, liposarcoma, and PEComa. Among typical cytogenetic changes in RMS are chromosomal translocations t(2;13)(q35;q14) and t(1;13)(p36;q14). They lead to the formation of fusion genes that have a prognostic value. In the course of RMS, changes may also be present in signaling pathways, including RAS-PI3K, Wnt/b-catenin, receptor tyrosine kinase pathways, and myogenesis regulation. In 30% of patients at the time of diagnosis of RMS, distant metastases are present, most commonly to lungs, lymph nodes, bones, and bone marrow. Treatment of patients with RMS requires a multidisciplinary approach, and steadily perfected diagnostic techniques contribute to the individualization of therapeutic strategies. Optimal treatment of localized RMS is based on surgery combined with radiotherapy and chemotherapy. If distant metastases are present, the basic therapeutic method is multidrug chemotherapy, most frequently based on vincristine, dactinomycin, ifosfamide/cyclophosphamide, and etoposide. Despite intensive treatment, the 5-year survival index for RMS is not greater than 50%. There are still no unequivocal guidelines concerning the treatment in patients with local or distant recurrences.

• #3 Tests for Rhabdomyosarcoma | Diagnosing Rhabdomyosarcoma | American Cancer Society

  https://www.cancer.org/cancer/types/rhabdomyosarcoma/detection-diagnosis-staging/how-diagnosed.html

  Medical history and physical exam […] Certain signs and symptoms might suggest that a person has rhabdomyosarcoma (RMS), but tests are needed to find out for sure. […] If the doctor suspects RMS (or another type of tumor), tests will be needed to find out. These might include imaging tests, biopsies, and/or lab tests. […] People who have or might have RMS will get one or more of these tests. […] The results of a physical exam or imaging tests might suggest that someone has RMS (or another type of soft tissue tumor), but a biopsy (removing some of the tumor for viewing under a microscope and other lab testing) is the only way to be certain. […] If for some reason a surgical biopsy cant be done, a less invasive biopsy using a thin, hollow needle may be done. […] The pathologist might use special stains on the samples to identify the type of tumor. […] If a diagnosis of RMS is made, the pathologist will also use special lab tests to help determine which kind of RMS it is. […] No blood test can be used to diagnose RMS. But certain blood tests may be helpful once a diagnosis has been made.

• #4 Rhabdomyosarcoma Cancer Symptoms and Treatment | UPMC

  https://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/rhabdomyosarcoma

  Rhabdomyosarcoma is a fast-growing cancerous tumor that is most commonly found in the head and neck, and particularly around the eyes. […] Symptoms of rhabdomyosarcoma may not always be apparent when the sarcoma is small, but can include neurological problems such as headaches. […] Your doctor will perform a physical exam and ask you about any symptoms you may be experiencing. […] The most common symptom of a rhabdomyosarcoma is a lump or swelling that may or may not be painful. […] Your doctor may order imaging tests if a rhabdomyosarcoma cancer is suspected. However, the only way to confirm the diagnosis is with a biopsy.

• #5 Rhabdomyosarcoma (RMS) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/rms.html

  Rhabdomyosarcoma (RMS) is a cancerous tumor that develops in the body’s soft tissues, usually the muscles. […] Rhabdomyosarcoma in the head may cause headaches, bulging of an eye, or a droopy eyelid. […] If a doctor thinks a child has RMS or another soft-tissue tumor, they will do a thorough physical exam and order these tests: Imaging studies. These will likely include a CT scan, MRI, and maybe an X-ray, bone scan, PET scan, or ultrasound. Not only will these tests help find the size and location of the tumor, they also can see if cancer has spread (metastasized). […] A biopsy or resection. For a biopsy, a sample of a lump, a sore, or tissue is taken from the body for close examination. This helps doctors make a diagnosis and choose the right treatment. A resection is when part or all of a tumor is removed and examined.

• #6 Rhabdomyosarcoma | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/rhabdomyosarcoma

  Rhabdomyosarcoma diagnosis usually begins with a physical exam. Based on the results, the healthcare team might recommend other tests. These may include imaging tests and a procedure to remove a sample of cells for testing. […] Imaging tests make pictures of the inside of the body. They might help show the location and size of a rhabdomyosarcoma. Tests might include: X-rays, CT scans, MRI scans, Positron emission tomography scans, also called PET scans, Bone scans. […] A biopsy is a procedure to remove a sample of tissue for testing in a lab. A biopsy for rhabdomyosarcoma needs to be done in a way that won’t cause problems with future surgery. For this reason, it’s a good idea to seek care at a medical center that sees many people with this type of cancer. Experienced healthcare teams will select the best type of biopsy.

• #7 Imaging in rhabdomyosarcoma: a patient journey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10027795/

  Rhabdomyosarcoma, although rare, is the most frequent soft tissue sarcoma in children and adolescents. […] The optimal diagnostic approach and management of rhabdomyosarcoma require a multidisciplinary team with multimodal treatment, including chemotherapy and local therapy. […] In the full patient journey, from diagnosis, staging, management to follow-up after therapy, the paediatric radiologist and nuclear physician are essential members of the multidisciplinary team. […] Recently, guidelines of the European paediatric Soft tissue sarcoma Study Group, the Cooperative Weichteilsarkom Studiengruppe and the Oncology Task Force of the European Society of Paediatric Radiology (ESPR), in an ongoing collaboration with the International Soft-Tissue Sarcoma Database Consortium, provided guidance for high-quality imaging.

• #8 Rhabdomyosarcoma: Symptoms, Prognosis & Treatment

  https://my.clevelandclinic.org/health/diseases/6226-rhabdomyosarcoma

  Rhabdomyosarcoma is a rare type of cancer known as soft tissue sarcoma. It develops in your skeletal muscles. Rhabdomyosarcoma mostly affects children and teenagers but can affect adults as well. Each year, between 400 and 500 people in the U.S. receive a diagnosis of rhabdomyosarcoma. […] A healthcare provider will ask about your or your child’s symptoms. They’ll also ask about your family medical history to learn if anyone has an inherited disorder that increases the risk of rhabdomyosarcoma. […] They’ll do a physical examination to look for symptoms like lumps or growths. Providers may do the following tests to diagnose rhabdomyosarcoma: Computed tomography (CT) scan or magnetic resonance imaging (MRI) scan, Positron emission tomography (PET) scan, Bone scan, Lumbar puncture, Bone marrow biopsy, Biopsy to obtain tissue samples, Immunohistochemistry, Cytology tests.

• #9 Diagnosis of rhabdomyosarcoma | Canadian Cancer Society

  https://cancer.ca/en/cancer-information/cancer-types/rhabdomyosarcoma/diagnosis

  Blood chemistry tests measure certain chemicals in the blood. They show how well certain organs are working and can help find abnormalities. Blood chemistry tests are used to check how well the liver and kidneys are working. […] A computed tomography (CT) scan uses special x-ray equipment to make 3D and cross-sectional images of organs, tissues, bones and blood vessels inside the body. A CT scan is used to see tumours in the chest, abdomen, pelvis or lymph nodes. […] An x-ray uses small doses of radiation to make an image of parts of the body on film. A chest x-ray is sometimes done to see if cancer has spread to the lungs. […] Magnetic resonance imaging (MRI) uses powerful magnetic forces and radiofrequency waves to make cross-sectional images of organs, tissues, bones and blood vessels. An MRI is used for tumours in the head and neck area, arms, legs or pelvis.

• #10 Diagnosis of rhabdomyosarcoma | Canadian Cancer Society

  https://cancer.ca/en/cancer-information/cancer-types/rhabdomyosarcoma/diagnosis

  A positron emission tomography (PET) scan uses radioactive materials called radiopharmaceuticals to look for changes in the metabolic activity of body tissues. A PET scan may be used to tell RMS from a non-cancerous tumour in a muscle. […] A bone scan uses radioactive materials called radiopharmaceuticals and a computer to create a picture of the bones. It is used to see if cancer has spread to the bones. […] During a biopsy, the doctor removes tissues or cells from the body so they can be tested in a lab. A report from a pathologist will show whether or not cancer cells are found in the sample. […] A bone marrow aspiration and biopsy removes tissues or cells from the bone marrow. Doctors use it to see if cancer has spread to the bone marrow. […] A lumbar puncture removes a small amount of cerebrospinal fluid (CSF) from the spine. The fluid removed during a lumbar puncture is examined under a microscope to see if cancer has spread to the central nervous system (CNS).

• #11 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  Clinicians should perform initial diagnostic studies following clinical evaluation to identify the underlying etiology of the patient’s symptoms or, if present, the visible mass. As with most neoplasms, additional diagnostic evaluation through imaging and tissue biopsy is typically needed for diagnostic confirmation and to determine the extent of spread and prognosis. […] MRI imaging of the involved area should initially be used to diagnose patients with a musculoskeletal tumor and is preferred over CT due to better visualization. […] Imaging studies can be used to assess tumor response to treatment and recurrence. […] Therefore, experts recommend imaging studies should be performed before guided biopsies are obtained because resection of the biopsy tract and the tumor is recommended.

• #12 Imaging in rhabdomyosarcoma: a patient journey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10027795/

  Imaging plays a crucial role in the entire patient journey: from the clinical suspicion, to the definite diagnosis of rhabdomyosarcoma, the staging of disease for optimal risk stratification, evaluation of response to therapy, planning of local therapy and finally, follow-up and detection of relapse. […] The European imaging guideline recommends assessing regional lymph nodes with MRI in combination with fluorodeoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) or PET/MRI (if available), which not only serves to assess local lymph nodes, but also distant metastases. […] Once the diagnosis of rhabdomyosarcoma is pathologically confirmed, staging is important for optimal, risk-stratified treatment. […] The presence of pulmonary metastases is evaluated in all patients at diagnosis by non-contrast chest CT scan.

• #13 Rhabdomyosarcoma | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/rhabdomyosarcoma

  Rhabdomyosarcoma diagnosis usually begins with a physical exam. Based on the results, the healthcare team might recommend other tests. These may include imaging tests and a procedure to remove a sample of cells for testing. […] Imaging tests make pictures of the inside of the body. They might help show the location and size of a rhabdomyosarcoma. Tests might include: X-rays, CT scans, MRI scans, Positron emission tomography scans, also called PET scans, Bone scans. […] A biopsy is a procedure to remove a sample of tissue for testing in a lab. A biopsy for rhabdomyosarcoma needs to be done in a way that won’t cause problems with future surgery. For this reason, it’s a good idea to seek care at a medical center that sees many people with this type of cancer. Experienced healthcare teams will select the best type of biopsy.

• #14 Tests for Rhabdomyosarcoma | Diagnosing Rhabdomyosarcoma | American Cancer Society

  https://www.cancer.org/cancer/types/rhabdomyosarcoma/detection-diagnosis-staging/how-diagnosed.html

  Medical history and physical exam […] Certain signs and symptoms might suggest that a person has rhabdomyosarcoma (RMS), but tests are needed to find out for sure. […] If the doctor suspects RMS (or another type of tumor), tests will be needed to find out. These might include imaging tests, biopsies, and/or lab tests. […] People who have or might have RMS will get one or more of these tests. […] The results of a physical exam or imaging tests might suggest that someone has RMS (or another type of soft tissue tumor), but a biopsy (removing some of the tumor for viewing under a microscope and other lab testing) is the only way to be certain. […] If for some reason a surgical biopsy cant be done, a less invasive biopsy using a thin, hollow needle may be done. […] The pathologist might use special stains on the samples to identify the type of tumor. […] If a diagnosis of RMS is made, the pathologist will also use special lab tests to help determine which kind of RMS it is. […] No blood test can be used to diagnose RMS. But certain blood tests may be helpful once a diagnosis has been made.

• #15 Rhabdomyosarcoma | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/rhabdomyosarcoma

  Types of biopsy procedures used to diagnose rhabdomyosarcoma include: Needle biopsy. This method uses a needle to remove tissue samples from the cancer. Surgical biopsy. Sometimes, surgery might be needed to remove a larger sample of tissue. […] The biopsy sample goes to a lab for testing. Doctors who study blood and body tissue, called pathologists, will test the cells for cancer. Other special tests give more details about the cancer cells. Your healthcare team uses this information to make a treatment plan.

• #16 Diagnosis Rhabdomyosarcoma – Alomedika

  https://www.alomedika.com/penyakit/ortopedi/rhabdomyosarcoma/diagnosis

  Pemeriksaan biopsi rhabdomyosarcoma sangat penting, selain untuk diagnosis dan uji molekular. Biopsi dapat dilakukan dengan cara incisional biopsy yaitu dengan menginsisi langsung jaringan tumor serta dengan cara core needle aspiration biopsy menggunakan jarum yang agak besar pada jaringan yang dicurigai dengan bantuan aspirator. […] Pemeriksaan histopatologi sangat penting untuk mengetahui derajat keganasan (grade) rhabdomyosarcoma. Berdasarkan gambaran histopatologinya, terdapat beberapa subtipe dari rhabdomyosarcoma, antara lain embryonal rhabdomyosarcoma, alveolar rhabdomyosarcoma, pleomorphic rhabdomyosarcoma, dan botryoid and spindle cell (leiomyomatous) rhabdomyosarcoma. […] Pemeriksaan sitogenetik ini membantu untuk menentukan apakah translokasi terjadi di t (1; 13) atau t (2; 13), dimana keduanya terkait dengan subtipe alveolar rhabdomyosarcoma. Pemeriksaan FISH juga membantu dalam diagnosis untuk menilai pemisahan gen FKHR, meskipun tes ini akan melewatkan varian langka yang tidak melibatkan gen FKHR.

• #17 Rhabdomyosarcoma Diagnosis

  https://tamc.co.il/en/article/rhabdomyosarcoma-diagnosis/

  It is recommended that all patients have a biopsy before all procedures or that biomaterial is obtained during surgery. Taking a biopsy should be carefully planned by surgeons in order, if necessary, to conduct a full-fledged operation. […] To make the correct diagnosis, the doctor uses the following techniques: Inspection; Blood test; Biopsy; Radiography; MRI; Scintigraphy. […] Based on the obtained data, the specialist will develop an individual treatment plan taking into account the peculiarities of the development of pathology and the general state of the patient. It is worth noting that our clinic uses an integrated approach to therapy. Thus, doctors manage to develop the most optimal treatment scheme for the disease.

• #18 Diagnosis and treatment of rhabdomyosarcomas | Łomiak | Oncology in Clinical Practice

  https://journals.viamedica.pl/oncology_in_clinical_practice/article/view/86149

  Histopathological diagnosis of RMS is difficult, which is confirmed by the statistics of the international Intergroup Rhabdomyosarcoma Study Group (IRSG), according to which every fifth RMS diagnosis was incorrect. In a light or electron microscope, cells can be seen that show differentiation in the direction of skeletal muscle cells myoblast-like cells. The next step is to perform immunohistochemical staining for the expression of proteins characteristic for muscle, which include muscle-specific actin and myosin, desmin, myoglobin, the MyoD1 protein, and myogenin. The last two proteins are considered the most important markers of rhabdomyoblastic neoplasm differentiation. […] During histopathological diagnosis, the RMS subtype must be established.

• #19 Diagnosis and treatment of rhabdomyosarcomas | Łomiak | Oncology in Clinical Practice

  https://journals.viamedica.pl/oncology_in_clinical_practice/article/view/OCP.2022.0034

  Histopathological diagnosis of RMS is difficult, which is confirmed by the statistics of the international Intergroup Rhabdomyosarcoma Study Group (IRSG), according to which every fifth RMS diagnosis was incorrect. In a light or electron microscope, cells can be seen that show differentiation in the direction of skeletal muscle cells myoblast-like cells. The next step is to perform immunohistochemical staining for the expression of proteins characteristic for muscle, which include muscle-specific actin and myosin, desmin, myoglobin, the MyoD1 protein, and myogenin. The last two proteins are considered the most important markers of rhabdomyoblastic neoplasm differentiation. […] The procedure is initiated by coarse needle biopsy with a pathological diagnosis in a sarcoma treatment reference center. Before performing the biopsy, it is recommended to evaluate the progress of the disease by visual imaging [computed tomography (CT) or magnetic resonance imaging (MRI)] of the primary focus and the regional lymph flow to optimally plan the biopsy and eventual further surgical treatment. A significant element of primary diagnosis is also a clinical and radiological evaluation of not only regional but also distant lymph nodes, whose occupation constitutes a generalized neoplastic disease. The criteria of occupation of lymph nodes in RMS have so far not been standardized, and, generally, a node larger than 1 cm in diameter is considered suspicious, regardless of its appearance in radiological imaging.

• #20 Diagnosis and treatment of rhabdomyosarcomas | Łomiak | Oncology in Clinical Practice

  https://journals.viamedica.pl/oncology_in_clinical_practice/article/view/86149

  Histopathological diagnosis of RMS is difficult, which is confirmed by the statistics of the international Intergroup Rhabdomyosarcoma Study Group (IRSG), according to which every fifth RMS diagnosis was incorrect. In a light or electron microscope, cells can be seen that show differentiation in the direction of skeletal muscle cells myoblast-like cells. The next step is to perform immunohistochemical staining for the expression of proteins characteristic for muscle, which include muscle-specific actin and myosin, desmin, myoglobin, the MyoD1 protein, and myogenin. The last two proteins are considered the most important markers of rhabdomyoblastic neoplasm differentiation. […] During histopathological diagnosis, the RMS subtype must be established.

• #21 Diagnosis Rhabdomyosarcoma – Alomedika

  https://www.alomedika.com/penyakit/ortopedi/rhabdomyosarcoma/diagnosis

  Jika pemeriksaan sitogenetik tidak memungkinkan (misalnya gagal kultur) atau ketika hasil pemeriksaan tidak informatif maka pemeriksaan Reverse TranscriptasePolymerase Chain Reaction (RT-PCR) dapat dilakukan. Pemeriksaan RT-PCR berguna untuk menilai translokasi yang terjadi pada alveolar rhabdomyosarcoma dan small round blue-cell tumors lain pada masa kanak-kanak. […] Pemeriksaan aspirasi dan biopsi sumsum tulang dapat dilakukan untuk menilai penyebaran atau metastasis tumor ke sumsum tulang. […] Saat ini sudah dikembangkan pemeriksaan Imunohistokimia untuk diagnostik. tumor marker yang ditemukan pada rhabdomyosarcoma diantaranya: Antibody against Desmin, Muscle-specific actin, myoD1, Myoglobin, Myogenin, Vimentin, Caveolin-3.

• #22 Rhabdomyosarcoma – EyeWiki

  https://eyewiki.org/Rhabdomyosarcoma

  Obtaining a thorough history for the above symptoms, and performing a careful ocular examination in the office may assist in the diagnosis. […] Biopsy is necessary to establish a diagnosis. […] Central to the diagnosis is the demonstration of rhabdomyoblasts via light microscopy, immunohistochemistry and/or electron microscopy. […] The histopathologic classification favored by the Intergroup Rhabdomyosarcoma Study divides these tumors into embryonal, alveolar, undifferentiated, and anaplastic types. […] Further, cytogenetics is important in the diagnosis of RMS and differentiation between alveolar and embryonal variants.

• #23 Rhabdomyosarcoma differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Rhabdomyosarcoma_differential_diagnosis

  Rhabdomyosarcoma must be differentiated from wilms tumor, ewing sarcoma, neuroblastoma, pheochromocytoma, liposarcoma, osteosarcoma, acute myelocytic leukemia, acute lymphoblastic leukemia, and non-hodgkin lymphoma. They mostly differentiated by their signs, symptoms, and imaging findings. The gold standard of diagnosis is usually tissue biopsy. […] CT scan: Soft tissue density, Enhancement with contrast, Bone destruction. […] Ultrasound: Well-defined and irregular mass, Low to medium echogenicity. […] MRI: T1: Low to intermediate intensity, Hemorrhage areas are present in alveolar rhabdomyosarcoma. […] T2: Hyperintense, Prominent flow voids are present in extremity lesions of rhabdomyosarcoma. […] T1 C+(Gd): Enhancement. […] Positive immunohistochemical results for: myoglobin, actin, desmin, Myogenin.

• #24 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  The survival of rhabdomyosarcoma patients has improved due to interprofessional collaboration, leading to advancements in diagnosis and management approaches. […] Identify the known histopathologies of rhabdomyosarcoma. […] Delineate the recommended evaluation and diagnosis of rhabdomyosarcoma. […] Initial diagnostic studies of RMS involve histological analysis of the mass that assists in identifying the pathology. Biopsies are also essential for staging if a malignancy is diagnosed. […] Genetic testing, including molecular analysis and fluorescence-in-situ-hybridization testing, is recommended in all patients for diagnostic confirmation and identification of RMS subtypes. […] The identification of rhabdomyosarcoma is sometimes difficult due to the histologic similarity of the tumor to the other small, blue, round-cell pediatric bone and soft tissue tumors.

• #25 Rhabdomyosarcoma | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/rhabdomyosarcoma/

  Rhabdomyosarcoma is a cancerous tumor that originates in the soft tissues of the body, including the muscles, tendons and connective tissues. […] Rhabdomyosarcoma is the most common soft tissue sarcoma in childhood. In the U.S., about 250 children are diagnosed with rhabdomyosarcoma each year. […] Rhabdomyosarcomas usually have some type of chromosome abnormality in the cells of the tumor, which are responsible for the tumor formation. […] This important discovery has led to improvements in diagnosing rhabdomyosarcoma. […] In addition to a complete medical history and physical examination, diagnostic procedures for rhabdomyosarcoma may include: […] Diagnosis involves staging and classifying the tumor, which is important in determining treatment options. […] Staging is the process of finding out whether cancer has spread, and, if so, how far. […] One method of staging is the TNM staging system. […] Specific treatment for rhabdomyosarcoma will be determined by your child’s physician based on: […] Continuous follow-up care is essential if your child is diagnosed with rhabdomyosarcoma.

• #26 Diagnosis and treatment of rhabdomyosarcomas | Łomiak | Oncology in Clinical Practice

  https://journals.viamedica.pl/oncology_in_clinical_practice/article/view/86149

  Rhabdomyosarcoma (RMS) is a soft tissue sarcoma. The primary tumor is most commonly localized in the head and neck, the urogenital system, or the limbs. Classification by the World Health Organization has distinguished four histopathological RMS subtypes: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Differential diagnosis of RMS includes melanoma, malignant neoplasm of peripheral nerve sheaths, liposarcoma, and PEComa. Among typical cytogenetic changes in RMS are chromosomal translocations t(2;13)(q35;q14) and t(1;13)(p36;q14). They lead to the formation of fusion genes that have a prognostic value. In the course of RMS, changes may also be present in signaling pathways, including RAS-PI3K, Wnt/b-catenin, receptor tyrosine kinase pathways, and myogenesis regulation. In 30% of patients at the time of diagnosis of RMS, distant metastases are present, most commonly to lungs, lymph nodes, bones, and bone marrow. Treatment of patients with RMS requires a multidisciplinary approach, and steadily perfected diagnostic techniques contribute to the individualization of therapeutic strategies. Optimal treatment of localized RMS is based on surgery combined with radiotherapy and chemotherapy. If distant metastases are present, the basic therapeutic method is multidrug chemotherapy, most frequently based on vincristine, dactinomycin, ifosfamide/cyclophosphamide, and etoposide. Despite intensive treatment, the 5-year survival index for RMS is not greater than 50%. There are still no unequivocal guidelines concerning the treatment in patients with local or distant recurrences.

• #27 Diagnosis Rhabdomyosarcoma – Alomedika

  https://www.alomedika.com/penyakit/ortopedi/rhabdomyosarcoma/diagnosis

  Pemeriksaan biopsi rhabdomyosarcoma sangat penting, selain untuk diagnosis dan uji molekular. Biopsi dapat dilakukan dengan cara incisional biopsy yaitu dengan menginsisi langsung jaringan tumor serta dengan cara core needle aspiration biopsy menggunakan jarum yang agak besar pada jaringan yang dicurigai dengan bantuan aspirator. […] Pemeriksaan histopatologi sangat penting untuk mengetahui derajat keganasan (grade) rhabdomyosarcoma. Berdasarkan gambaran histopatologinya, terdapat beberapa subtipe dari rhabdomyosarcoma, antara lain embryonal rhabdomyosarcoma, alveolar rhabdomyosarcoma, pleomorphic rhabdomyosarcoma, dan botryoid and spindle cell (leiomyomatous) rhabdomyosarcoma. […] Pemeriksaan sitogenetik ini membantu untuk menentukan apakah translokasi terjadi di t (1; 13) atau t (2; 13), dimana keduanya terkait dengan subtipe alveolar rhabdomyosarcoma. Pemeriksaan FISH juga membantu dalam diagnosis untuk menilai pemisahan gen FKHR, meskipun tes ini akan melewatkan varian langka yang tidak melibatkan gen FKHR.

• #28 Diagnosis Rhabdomyosarcoma – Alomedika

  https://www.alomedika.com/penyakit/ortopedi/rhabdomyosarcoma/diagnosis

  Jika pemeriksaan sitogenetik tidak memungkinkan (misalnya gagal kultur) atau ketika hasil pemeriksaan tidak informatif maka pemeriksaan Reverse TranscriptasePolymerase Chain Reaction (RT-PCR) dapat dilakukan. Pemeriksaan RT-PCR berguna untuk menilai translokasi yang terjadi pada alveolar rhabdomyosarcoma dan small round blue-cell tumors lain pada masa kanak-kanak. […] Pemeriksaan aspirasi dan biopsi sumsum tulang dapat dilakukan untuk menilai penyebaran atau metastasis tumor ke sumsum tulang. […] Saat ini sudah dikembangkan pemeriksaan Imunohistokimia untuk diagnostik. tumor marker yang ditemukan pada rhabdomyosarcoma diantaranya: Antibody against Desmin, Muscle-specific actin, myoD1, Myoglobin, Myogenin, Vimentin, Caveolin-3.

• #29 Tests for Rhabdomyosarcoma | Diagnosing Rhabdomyosarcoma | American Cancer Society

  https://www.cancer.org/cancer/types/rhabdomyosarcoma/detection-diagnosis-staging/how-diagnosed.html

  Medical history and physical exam […] Certain signs and symptoms might suggest that a person has rhabdomyosarcoma (RMS), but tests are needed to find out for sure. […] If the doctor suspects RMS (or another type of tumor), tests will be needed to find out. These might include imaging tests, biopsies, and/or lab tests. […] People who have or might have RMS will get one or more of these tests. […] The results of a physical exam or imaging tests might suggest that someone has RMS (or another type of soft tissue tumor), but a biopsy (removing some of the tumor for viewing under a microscope and other lab testing) is the only way to be certain. […] If for some reason a surgical biopsy cant be done, a less invasive biopsy using a thin, hollow needle may be done. […] The pathologist might use special stains on the samples to identify the type of tumor. […] If a diagnosis of RMS is made, the pathologist will also use special lab tests to help determine which kind of RMS it is. […] No blood test can be used to diagnose RMS. But certain blood tests may be helpful once a diagnosis has been made.

• #30 Diagnosis of rhabdomyosarcoma | Canadian Cancer Society

  https://cancer.ca/en/cancer-information/cancer-types/rhabdomyosarcoma/diagnosis

  Diagnosis is the process of finding out the cause of a health problem. Diagnosing rhabdomyosarcoma (RMS) usually begins with a visit to your child’s family doctor or pediatrician. The doctor will ask you about any symptoms your child has and will do a physical exam. Based on this information, the doctor may refer your child to a specialist or order tests to check for RMS or other health problems. […] The following tests are usually used to rule out or diagnose RMS. Many of the same tests used to diagnose cancer are used to find out the stage (how far the cancer has spread). The doctor may also order other tests to check your child’s general health and to help plan their treatment. […] A complete blood count (CBC) measures the number and quality of white blood cells, red blood cells and platelets. A CBC is done to check if cancer has spread to the bone marrow.

• #31 Diagnosis of rhabdomyosarcoma | Canadian Cancer Society

  https://cancer.ca/en/cancer-information/cancer-types/rhabdomyosarcoma/diagnosis

  Blood chemistry tests measure certain chemicals in the blood. They show how well certain organs are working and can help find abnormalities. Blood chemistry tests are used to check how well the liver and kidneys are working. […] A computed tomography (CT) scan uses special x-ray equipment to make 3D and cross-sectional images of organs, tissues, bones and blood vessels inside the body. A CT scan is used to see tumours in the chest, abdomen, pelvis or lymph nodes. […] An x-ray uses small doses of radiation to make an image of parts of the body on film. A chest x-ray is sometimes done to see if cancer has spread to the lungs. […] Magnetic resonance imaging (MRI) uses powerful magnetic forces and radiofrequency waves to make cross-sectional images of organs, tissues, bones and blood vessels. An MRI is used for tumours in the head and neck area, arms, legs or pelvis.

• #32 Rhabdomyosarcoma Stages and Risk Groups | American Cancer Society

  https://www.cancer.org/cancer/types/rhabdomyosarcoma/detection-diagnosis-staging/staging.html

  Once rhabdomyosarcoma (RMS) has been diagnosed and the type of RMS identified, doctors need to assess how much cancer there is and where it has spread. This is known as the stage of the cancer. The stage is one of the most important factors in determining a person’s prognosis (outlook). It’s also important when deciding on the best treatment options. […] Doctors use the results of imaging tests and biopsies and the examination of the organs during surgery to learn how far the cancer has spread. If there is any doubt about the extent of the cancer, more biopsies or other tests may be done. […] Using the information about the TNM stage, the clinical group, and the PAX/FOX01 fusion gene status, doctors divide patients into 3 risk groups. This helps doctors decide how aggressive treatment should be. […] The risk groups are based on what has been learned from research on people previously treated for RMS. The groups discussed here are based on the most current information, but these may change in the future as safer and more effective treatments are developed.

• #33 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  Rhabdomyosarcoma (RMS) is a malignant soft tissue sarcoma that is believed to originate from primitive mesenchymal cells that typically differentiate into skeletal tissue. However, these tumors can also arise in other types of tissue and any anatomic area. RMS is the most common soft tissue sarcoma diagnosed in children; only 1% to 2% of these cancers are found in adults. […] The management approach is tailored to a patient’s risk stratification. Two systems are used to characterize risk stratification for RMS: the Clinical Group or the Stage. Each system uses different factors to categorize patients according to risk, and most authorities use both to determine the most appropriate therapeutic approach. […] Currently, treatment is multimodal, combining surgery, when feasible, to completely remove the primary tumor and chemotherapy to control disease spread, even if no evidence of metastasis is present on imaging because most patients have been found to have micrometastasis in studies.

• #34 Rhabdomyosarcoma Stages and Risk Groups | American Cancer Society

  https://www.cancer.org/cancer/types/rhabdomyosarcoma/detection-diagnosis-staging/staging.html

  Once rhabdomyosarcoma (RMS) has been diagnosed and the type of RMS identified, doctors need to assess how much cancer there is and where it has spread. This is known as the stage of the cancer. The stage is one of the most important factors in determining a person’s prognosis (outlook). It’s also important when deciding on the best treatment options. […] Doctors use the results of imaging tests and biopsies and the examination of the organs during surgery to learn how far the cancer has spread. If there is any doubt about the extent of the cancer, more biopsies or other tests may be done. […] Using the information about the TNM stage, the clinical group, and the PAX/FOX01 fusion gene status, doctors divide patients into 3 risk groups. This helps doctors decide how aggressive treatment should be. […] The risk groups are based on what has been learned from research on people previously treated for RMS. The groups discussed here are based on the most current information, but these may change in the future as safer and more effective treatments are developed.

• #35 Rhabdomyosarcoma: Symptoms, Prognosis & Treatment

  https://my.clevelandclinic.org/health/diseases/6226-rhabdomyosarcoma

  Oncologists who care for children with rhabdomyosarcoma classify the condition by risk group. They establish risk group classification based on three factors: Tumor stage, Clinical group, Gene changes. […] Risk group classifications are low risk, intermediate risk and high risk. Your child’s oncology team uses risk group classification to plan treatment, assess the chance the tumor will come back after treatment and establish a prognosis, or what you can expect to happen after treatment. […] Treatment varies depending on the condition type. Rhabdomyosarcoma is a rare disease; if you or your child has it, ask the cancer care team about participating in a clinical trial. In general, oncologists use the following treatments: Surgery, Radiation therapy, Chemotherapy. […] Sometimes, treatment can cure rhabdomyosarcoma. This is called remission, which means that you don’t have symptoms and tests don’t detect signs of cancer. In many cases, remission is permanent, but rhabdomyosarcoma can come back. […] If you or your child are receiving treatment, contact your oncologist if treatment side effects are stronger than you expect. Depending on your situation, your oncologist may have specific guidance on symptoms that could mean rhabdomyosarcoma is spreading or coming back.

• #36 Rhabdomyosarcoma: Symptoms, Prognosis & Treatment

  https://my.clevelandclinic.org/health/diseases/6226-rhabdomyosarcoma

  Oncologists who care for children with rhabdomyosarcoma classify the condition by risk group. They establish risk group classification based on three factors: Tumor stage, Clinical group, Gene changes. […] Risk group classifications are low risk, intermediate risk and high risk. Your child’s oncology team uses risk group classification to plan treatment, assess the chance the tumor will come back after treatment and establish a prognosis, or what you can expect to happen after treatment. […] Treatment varies depending on the condition type. Rhabdomyosarcoma is a rare disease; if you or your child has it, ask the cancer care team about participating in a clinical trial. In general, oncologists use the following treatments: Surgery, Radiation therapy, Chemotherapy. […] Sometimes, treatment can cure rhabdomyosarcoma. This is called remission, which means that you don’t have symptoms and tests don’t detect signs of cancer. In many cases, remission is permanent, but rhabdomyosarcoma can come back. […] If you or your child are receiving treatment, contact your oncologist if treatment side effects are stronger than you expect. Depending on your situation, your oncologist may have specific guidance on symptoms that could mean rhabdomyosarcoma is spreading or coming back.

• #37 Imaging in rhabdomyosarcoma: a patient journey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10027795/

  Rhabdomyosarcoma, although rare, is the most frequent soft tissue sarcoma in children and adolescents. […] The optimal diagnostic approach and management of rhabdomyosarcoma require a multidisciplinary team with multimodal treatment, including chemotherapy and local therapy. […] In the full patient journey, from diagnosis, staging, management to follow-up after therapy, the paediatric radiologist and nuclear physician are essential members of the multidisciplinary team. […] Recently, guidelines of the European paediatric Soft tissue sarcoma Study Group, the Cooperative Weichteilsarkom Studiengruppe and the Oncology Task Force of the European Society of Paediatric Radiology (ESPR), in an ongoing collaboration with the International Soft-Tissue Sarcoma Database Consortium, provided guidance for high-quality imaging.

• #38 Pediatric Rhabdomyosarcoma Workup: Laboratory Studies, Imaging Studies, Procedures

  https://emedicine.medscape.com/article/988803-workup

  The following studies are indicated in rhabdomyosarcoma: […] Imaging studies that have been used in the workup include the following: […] Procedures include the following: […] Rhabdomyosarcoma is one of the small, round blue-cell tumors of childhood. […] Balanced translocations between chromosomes (2;13) or (1;13) have been identified in approximately 80% of alveolar RMS. […] Recent research has been focused on performing whole genome, whole exome and transcriptome sequencing to characterize the landscape of somatic alterations.

• #39 Predicting high-risk rhabdomyosarcoma at diagnosis to improve outcomes | CCLG – The Children & Young People’s Cancer Association

  https://www.cclg.org.uk/our-research/our-research-projects/predicting-high-risk-rhabdomyosarcoma-diagnosis-improve-outcomes

  Doctors separate rhabdomyosarcoma patients into different risk groups so that they can give the right amount of treatment. […] However, there is currently no way to determine how at risk most patients are if they do not have one of these fusion genes. […] In this project, Professor Janet Shipley at The Institute of Cancer Research will look for a way to predict risk for PAX-FOXO1 fusion-negative rhabdomyosarcoma at diagnosis. […] The researchers will map the markers onto over 100 rhabdomyosarcoma tumour samples. […] After validation, Professor Shipley plans to include the best markers in the current FaR-RMS clinical trial.

• #40 Imaging in rhabdomyosarcoma: a patient journey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10027795/

  Imaging plays a crucial role in the entire patient journey: from the clinical suspicion, to the definite diagnosis of rhabdomyosarcoma, the staging of disease for optimal risk stratification, evaluation of response to therapy, planning of local therapy and finally, follow-up and detection of relapse. […] The European imaging guideline recommends assessing regional lymph nodes with MRI in combination with fluorodeoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) or PET/MRI (if available), which not only serves to assess local lymph nodes, but also distant metastases. […] Once the diagnosis of rhabdomyosarcoma is pathologically confirmed, staging is important for optimal, risk-stratified treatment. […] The presence of pulmonary metastases is evaluated in all patients at diagnosis by non-contrast chest CT scan.

• #41 Imaging in rhabdomyosarcoma: a patient journey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10027795/

  After the first imaging work-up of the primary tumour, an image-guided biopsy should be performed in the same expert centre as the definitive surgery. […] The goal of the biopsy is to obtain material for diagnosis, including immunohistochemistry, molecular analyses and (ideally) tumour tissue banking. […] The quality of resection at diagnosis is one of the parameters for risk stratification (IRS post-surgical grouping, see above). […] The aim is complete resection of the primary tumour (R0: microscopic complete resection) without mutilating the patient. […] Therapy of rhabdomyosarcoma always consists of systemic chemotherapy in combination with radiotherapy and/or surgery. […] Chemotherapy is necessary in all cases, even in the low-risk group, to treat potential micrometastases, which are present in the vast majority of cases, despite normal findings on imaging. […] The current European imaging guidelines advise that surveillance imaging should be performed three times a year in the first 2 years after the end of therapy, reducing the period of surveillance of the primary tumour from 5 to 2 years.

• #42 Diagnosis | Rhabdomyosarcoma | Lab Animal

  https://www.nature.com/articles/laban0510-138

  Immunohistochemistry, a method of identifying cell types based on the binding of antibodies to specific cell-type components, has emerged as a valuable adjunct to hematoxylin and eosin staining in diagnostic histopathology. […] The antibodies we used were mouse monoclonal antibody to human keratin (clone AE1/AE3, Dako, Denmark) diluted 1:100, mouse monoclonal antibody to human vimentin (VIM 3B4 code M7020, Dako, Denmark) diluted 1:100, mouse monoclonal antibody to human actin (clone HHF35, Enzo Life Sciences, USA) diluted 1:50 and rabbit polyclonal S100 protein (Z0311, Dako, Denmark) diluted 1:200. […] In one report, 14 well-differentiated rhabdomyosarcomas were diagnosed in 10,000 necropsies of mice. […] Coindre, J.M. et al. Immunohistochemical study of rhabdomyosarcoma. Unexpected staining with S100 protein and cytokeratin.

• #43 Annals of Clinical & Laboratory Science

  http://www.annclinlabsci.org/content/50/3/412.full

  Rhabdomyosarcoma (RMS) is a primitive embryonal mesenchymal neoplasm demonstrating skeletal muscle differentiation. Diagnosis of RMS remains difficult due to the diversity of clinical features, pathological forms, and lesions locations. Immunohistochemistry and Fluorescence in Situ Hybridization are common methods used to aid RMS diagnosis. In this research we tested protein expression of Desmin (Clone MX046), MyoD1 (Clone MX049), MyoD1 (Clone 5.8A), MyoD1 (Clone EP212), Myogenin (Clone F5D), and cytogenetic features in 21 RMS cases, with following results: positive rates of Desmin (Clone MX046), MyoD1 (Clone MX049), MyoD1 (Clone 5.8A), MyoD1 (Clone EP212) and Myogenin (Clone F5D) were 100.00%, 100.00%, 90.48%, 95.24% and 85.71%, respectively, with cytoplasmic stains of MyoD1 (Clone 5.8A) in 38.10% (8/21) cases and only nuclear stains of MyoD1 (Clone EP212), MyoD1 (Clone MX049) in all positive cases.

• #44 Annals of Clinical & Laboratory Science

  http://www.annclinlabsci.org/content/50/3/412.full

  Pathologists make decisions by combining results of Immunohistochemistry (IHC) and Fluorescence In Situ Hybridization (FISH) when biopsy samples show few histological characteristics for diagnosis. […] MyoD1 is generally employed to assist RMS diagnosis due to its high expression in RMS cases. However, commercially available MyoD1 (Clone 5.8A) exerts background cytoplasmic staining that easily leads to false positive. It was also reported to display cytoplasmic staining in alveolar soft part sarcoma and small round cell tumor. […] In this research, MyoD1 (Clone MX049) was proved to be more sensitive and specific than MyoD1 (Clone 5.8A) and MyoD1 (Clone EP212). […] According to statistical analysis, there was no difference in positive rates of MyoD1 (Clone MX049), MyoD1 (Clone 5.8A) and MyoD1 (Clone EP212) under IHC and that of FISH. Nevertheless, MyoD1 (Clone MX049) was positive on 1 ARMS case while MyoD1 (Clone 5.8A) and MyoD1 (Clone EP212) and even FISH were all negative. Hence we are reasonable to declare that MyoD1 (Clone MX049) is more sensitive and specific than MyoD1 (Clone 5.8A) and MyoD1 (Clone EP212).

• #45 Cytological diagnosis of patients with embryonal rhabdomyosarcoma of the cervix: case report and literature review | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-024-01497-y

  Cervical embryonal rhabdomyosarcoma(ERMS) is a rare malignancy. To date, no cases of ERMS diagnosed by cervical cytology have been reported. […] We report the case of a 46-year-old perimenopausal woman diagnosed with ERMS by liquid-based cytology testing, cell block examination and immunohistochemistry. […] We describe the cytological features of ERMS as well as the cell-block and immunohistochemical findings and demonstrate that a definite diagnosis of ERMS can be made based on cytologic examination alone. […] The cytopathologic features observed in this patient were as follows: mostly round or oval tumor cells, with high nucleoplasmic ratios, scarce cytoplasm, and indistinct borders. […] By combining these findings with information from cell block examination and IHC, we finally diagnosed the patient with ERMS.

• #46 Cytological diagnosis of patients with embryonal rhabdomyosarcoma of the cervix: case report and literature review | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-024-01497-y

  Cervical embryonal rhabdomyosarcoma(ERMS) is a rare malignancy. To date, no cases of ERMS diagnosed by cervical cytology have been reported. […] We report the case of a 46-year-old perimenopausal woman diagnosed with ERMS by liquid-based cytology testing, cell block examination and immunohistochemistry. […] We describe the cytological features of ERMS as well as the cell-block and immunohistochemical findings and demonstrate that a definite diagnosis of ERMS can be made based on cytologic examination alone. […] The cytopathologic features observed in this patient were as follows: mostly round or oval tumor cells, with high nucleoplasmic ratios, scarce cytoplasm, and indistinct borders. […] By combining these findings with information from cell block examination and IHC, we finally diagnosed the patient with ERMS.

• #47 Cytological diagnosis of patients with embryonal rhabdomyosarcoma of the cervix: case report and literature review | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-024-01497-y

  The appearance of small blue round cells and rhabdomyoblast-like cells on cervical cytology requires consideration of the possibility of small blue round cell tumors such as rhabdomyosarcoma. […] Currently, there is no consensus regarding the optimum management protocol for patients with cervical ERMS. […] Cervical smears are an important means of cervical cancer screening. […] Although ERMS is uncommon in older adults, the disease must be considered in the differential diagnosis when there is vaginal bleeding or a protruding mass. […] The pathologist should be familiar with these cytological features and characteristic findings from cell block examination and IHC, allowing early and accurate diagnosis of ERMS for timely treatment and avoidance of unnecessary surgical biopsy.

• #48 Rhabdomyosarcoma differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Rhabdomyosarcoma_differential_diagnosis

  Rhabdomyosarcoma must be differentiated from wilms tumor, ewing sarcoma, neuroblastoma, pheochromocytoma, liposarcoma, osteosarcoma, acute myelocytic leukemia, acute lymphoblastic leukemia, and non-hodgkin lymphoma. They mostly differentiated by their signs, symptoms, and imaging findings. The gold standard of diagnosis is usually tissue biopsy. […] CT scan: Soft tissue density, Enhancement with contrast, Bone destruction. […] Ultrasound: Well-defined and irregular mass, Low to medium echogenicity. […] MRI: T1: Low to intermediate intensity, Hemorrhage areas are present in alveolar rhabdomyosarcoma. […] T2: Hyperintense, Prominent flow voids are present in extremity lesions of rhabdomyosarcoma. […] T1 C+(Gd): Enhancement. […] Positive immunohistochemical results for: myoglobin, actin, desmin, Myogenin.

• #49 Orphanet: Rhabdomyosarcoma

  https://www.orpha.net/en/disease/detail/780

  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. […] Diagnosis is based on positive muscular markers and immunohistochemistry. The evidence of a translocation t(2;13) leads to diagnosis of alveolar forms. […] Differential diagnoses include small round cell tumors (lymphoma, neuroblastoma, Ewing sarcoma). It is possible to distinguish between tumors using immunohistochemistry. Some rhabdomyosarcomas are associated with a genetic predisposition to cancer as part of Li-Fraumeni syndrome or neurofibromatosis type 1.

• #50 Rhabdomyosarcoma differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Rhabdomyosarcoma_differential_diagnosis

  Rhabdomyosarcoma must be differentiated from wilms tumor, ewing sarcoma, neuroblastoma, pheochromocytoma, liposarcoma, osteosarcoma, acute myelocytic leukemia, acute lymphoblastic leukemia, and non-hodgkin lymphoma. They mostly differentiated by their signs, symptoms, and imaging findings. The gold standard of diagnosis is usually tissue biopsy. […] CT scan: Soft tissue density, Enhancement with contrast, Bone destruction. […] Ultrasound: Well-defined and irregular mass, Low to medium echogenicity. […] MRI: T1: Low to intermediate intensity, Hemorrhage areas are present in alveolar rhabdomyosarcoma. […] T2: Hyperintense, Prominent flow voids are present in extremity lesions of rhabdomyosarcoma. […] T1 C+(Gd): Enhancement. […] Positive immunohistochemical results for: myoglobin, actin, desmin, Myogenin.

• #51 Rhabdomyosarcoma differential diagnosis – wikidoc

  https://www.wikidoc.org/index.php/Rhabdomyosarcoma_differential_diagnosis

  Rhabdomyosarcoma must be differentiated from wilms tumor, ewing sarcoma, neuroblastoma, pheochromocytoma, liposarcoma, osteosarcoma, acute myelocytic leukemia, acute lymphoblastic leukemia, and non-hodgkin lymphoma. They mostly differentiated by their signs, symptoms, and imaging findings. The gold standard of diagnosis is usually tissue biopsy. […] CT scan: Soft tissue density, Enhancement with contrast, Bone destruction. […] Ultrasound: Well-defined and irregular mass, Low to medium echogenicity. […] MRI: T1: Low to intermediate intensity, Hemorrhage areas are present in alveolar rhabdomyosarcoma. […] T2: Hyperintense, Prominent flow voids are present in extremity lesions of rhabdomyosarcoma. […] T1 C+(Gd): Enhancement. […] Positive immunohistochemical results for: myoglobin, actin, desmin, Myogenin.

• #52 Imaging in rhabdomyosarcoma: a patient journey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10027795/

  Rhabdomyosarcoma, although rare, is the most frequent soft tissue sarcoma in children and adolescents. […] The optimal diagnostic approach and management of rhabdomyosarcoma require a multidisciplinary team with multimodal treatment, including chemotherapy and local therapy. […] In the full patient journey, from diagnosis, staging, management to follow-up after therapy, the paediatric radiologist and nuclear physician are essential members of the multidisciplinary team. […] Recently, guidelines of the European paediatric Soft tissue sarcoma Study Group, the Cooperative Weichteilsarkom Studiengruppe and the Oncology Task Force of the European Society of Paediatric Radiology (ESPR), in an ongoing collaboration with the International Soft-Tissue Sarcoma Database Consortium, provided guidance for high-quality imaging.

• #53 Rhabdomyosarcoma > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/rhabdomyosarcoma

  What are the symptoms of rhabdomyosarcoma? […] How is rhabdomyosarcoma diagnosed? […] To diagnose rhabdomyosarcoma, doctors will obtain a medical history, do a physical exam, and order imaging tests, as needed. […] If they suspect that the mass may be cancerous, doctors will order one or more of the following imaging tests: […] If the imaging study confirms the presence of a mass or lump, the doctors will biopsy the tissue to make a formal diagnosis. Tissue analysis and cancer staging can confirm the presence of rhabdomyosarcoma and also whether the cancer is classified as low, intermediate, or high risk. […] Treatment for rhabdomyosarcoma may vary, based on the location, size, and type of the tumor. Options include: […] How is rhabdomyosarcoma treated? […] At Yale, we treat children and adults with rhabdomyosarcoma through our Solid Tumor Program, which includes oncologists specializing in the treatment of sarcoma, along with surgeons, radiation oncologists, pathologists, and specialized radiologists, says Dr. Vasquez. […] We work together closely to make the diagnosis and determine the best course of treatment individualized to each patients disease and with the most advanced options possible.

• #54 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  The survival of rhabdomyosarcoma patients has improved due to interprofessional collaboration, leading to advancements in diagnosis and management approaches. […] Identify the known histopathologies of rhabdomyosarcoma. […] Delineate the recommended evaluation and diagnosis of rhabdomyosarcoma. […] Initial diagnostic studies of RMS involve histological analysis of the mass that assists in identifying the pathology. Biopsies are also essential for staging if a malignancy is diagnosed. […] Genetic testing, including molecular analysis and fluorescence-in-situ-hybridization testing, is recommended in all patients for diagnostic confirmation and identification of RMS subtypes. […] The identification of rhabdomyosarcoma is sometimes difficult due to the histologic similarity of the tumor to the other small, blue, round-cell pediatric bone and soft tissue tumors.

• #55 Rhabdomyosarcoma | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/rhabdomyosarcoma

  Rhabdomyosarcoma is caused by genetic changes in tumor cells. […] Your doctor will evaluate these genetic changes to determine the type of rhabdomyosarcoma your child has and to decide on the best treatment approach. […] Diagnosis often takes time, either because of a lack of clear-cut symptoms or symptoms that mimic injuries. […] Diagnosing rhabdomyosarcoma requires a careful and complete medical workup and examination of your child. […] At Childrens Hospital of Philadelphia (CHOP), clinicians use a variety of diagnostic tests to correctly identify rhabdomyosarcoma in your child, including: Magnetic resonance imaging (MRI), Needle biopsy, Computed tomography (CT) scan, Bone marrow biopsy, Positron emission tomography (PET) scan, Spinal tap (lumbar puncture). […] Regular monitoring by trained clinicians is strongly encouraged to check for possible recurrence of the growth and manage any side effects of treatment. […] During follow-up visits, diagnostic testing of the tumor site or other areas may be recommended to closely monitor your child’s health and make sure there is no recurrence.

• #56 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  Clinicians should perform initial diagnostic studies following clinical evaluation to identify the underlying etiology of the patient’s symptoms or, if present, the visible mass. As with most neoplasms, additional diagnostic evaluation through imaging and tissue biopsy is typically needed for diagnostic confirmation and to determine the extent of spread and prognosis. […] MRI imaging of the involved area should initially be used to diagnose patients with a musculoskeletal tumor and is preferred over CT due to better visualization. […] Imaging studies can be used to assess tumor response to treatment and recurrence. […] Therefore, experts recommend imaging studies should be performed before guided biopsies are obtained because resection of the biopsy tract and the tumor is recommended.

• #57 Imaging in rhabdomyosarcoma: a patient journey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10027795/

  After the first imaging work-up of the primary tumour, an image-guided biopsy should be performed in the same expert centre as the definitive surgery. […] The goal of the biopsy is to obtain material for diagnosis, including immunohistochemistry, molecular analyses and (ideally) tumour tissue banking. […] The quality of resection at diagnosis is one of the parameters for risk stratification (IRS post-surgical grouping, see above). […] The aim is complete resection of the primary tumour (R0: microscopic complete resection) without mutilating the patient. […] Therapy of rhabdomyosarcoma always consists of systemic chemotherapy in combination with radiotherapy and/or surgery. […] Chemotherapy is necessary in all cases, even in the low-risk group, to treat potential micrometastases, which are present in the vast majority of cases, despite normal findings on imaging. […] The current European imaging guidelines advise that surveillance imaging should be performed three times a year in the first 2 years after the end of therapy, reducing the period of surveillance of the primary tumour from 5 to 2 years.

• #58 Rhabdomyosarcoma | Macmillan Cancer Support

  https://www.macmillan.org.uk/cancer-information-and-support/soft-tissue-sarcoma/rhabdomyosarcoma

  You will have regular check-up appointments at the hospital. Your doctor will examine you and ask about any side effects or symptoms. You will also have blood tests. You may also have an x-ray of your chest or CT scan. If you have any new symptoms between appointments, let your doctor or nurse know.

• #59 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  The survival of rhabdomyosarcoma patients has improved due to interprofessional collaboration, leading to advancements in diagnosis and management approaches. […] Identify the known histopathologies of rhabdomyosarcoma. […] Delineate the recommended evaluation and diagnosis of rhabdomyosarcoma. […] Initial diagnostic studies of RMS involve histological analysis of the mass that assists in identifying the pathology. Biopsies are also essential for staging if a malignancy is diagnosed. […] Genetic testing, including molecular analysis and fluorescence-in-situ-hybridization testing, is recommended in all patients for diagnostic confirmation and identification of RMS subtypes. […] The identification of rhabdomyosarcoma is sometimes difficult due to the histologic similarity of the tumor to the other small, blue, round-cell pediatric bone and soft tissue tumors.

• #60 Rhabdomyosarcoma – Overview – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rhabdomyosarcoma/home/ovc-20310222

  Rhabdomyosarcoma treatment often involves surgery, chemotherapy and radiation therapy. Treatment depends on where the cancer starts, how large it grows and whether it spreads to other parts of the body. […] Research into diagnosis and treatment have greatly improved the outlook for people diagnosed with rhabdomyosarcoma. More and more people are living for years after a rhabdomyosarcoma diagnosis.

• #61 Diagnosis and treatment of rhabdomyosarcomas | Łomiak | Oncology in Clinical Practice

  https://journals.viamedica.pl/oncology_in_clinical_practice/article/view/86149

  Rhabdomyosarcoma (RMS) is a soft tissue sarcoma. The primary tumor is most commonly localized in the head and neck, the urogenital system, or the limbs. Classification by the World Health Organization has distinguished four histopathological RMS subtypes: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Differential diagnosis of RMS includes melanoma, malignant neoplasm of peripheral nerve sheaths, liposarcoma, and PEComa. Among typical cytogenetic changes in RMS are chromosomal translocations t(2;13)(q35;q14) and t(1;13)(p36;q14). They lead to the formation of fusion genes that have a prognostic value. In the course of RMS, changes may also be present in signaling pathways, including RAS-PI3K, Wnt/b-catenin, receptor tyrosine kinase pathways, and myogenesis regulation. In 30% of patients at the time of diagnosis of RMS, distant metastases are present, most commonly to lungs, lymph nodes, bones, and bone marrow. Treatment of patients with RMS requires a multidisciplinary approach, and steadily perfected diagnostic techniques contribute to the individualization of therapeutic strategies. Optimal treatment of localized RMS is based on surgery combined with radiotherapy and chemotherapy. If distant metastases are present, the basic therapeutic method is multidrug chemotherapy, most frequently based on vincristine, dactinomycin, ifosfamide/cyclophosphamide, and etoposide. Despite intensive treatment, the 5-year survival index for RMS is not greater than 50%. There are still no unequivocal guidelines concerning the treatment in patients with local or distant recurrences.

• #62 Rhabdomyosarcoma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK507721/

  The survival of rhabdomyosarcoma patients has improved due to interprofessional collaboration, leading to advancements in diagnosis and management approaches. […] Identify the known histopathologies of rhabdomyosarcoma. […] Delineate the recommended evaluation and diagnosis of rhabdomyosarcoma. […] Initial diagnostic studies of RMS involve histological analysis of the mass that assists in identifying the pathology. Biopsies are also essential for staging if a malignancy is diagnosed. […] Genetic testing, including molecular analysis and fluorescence-in-situ-hybridization testing, is recommended in all patients for diagnostic confirmation and identification of RMS subtypes. […] The identification of rhabdomyosarcoma is sometimes difficult due to the histologic similarity of the tumor to the other small, blue, round-cell pediatric bone and soft tissue tumors.

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