Muscle -

Rhabdomyosarcoma

This article was last reviewed and updated on September 16, 2018.
by Jason Wasserman, MD FRCPC

Quick facts:

  • Rhabdomyosarcoma is cancer made up of cells muscle cells.

  • It is a type of cancer called a sarcoma.

  • Most rhabdomyosarcomas occur in children although it can also happen in adults.

  • There are different types of rhabdomyosarcoma including embryonal, alveolar, pleomorphic, and spindle cell/sclerosing.

 

Learn more

Muscle is a special type of tissue that can quickly change in size and shape. For example, a muscle can become shorter (contract) or longer (extend). Muscles are found all over our body. Some muscles, like the ones in our legs that allow us to walk and run, are very large. Other muscles, like the ones inside that move our eyes, are very small. Most of the muscles in our body come from cells called immature muscle cells rhabdomyoblasts which over time turn into mature adult muscle cells.

Rhabdomyosarcoma is a type of cancer (a malignant tumour) made up of immature muscle cells. A rhabdomyosarcoma can start anywhere in the body where there are skeletal muscle cells. The most common locations for rhabdomyosarcoma include the head and neck, arms and legs, bladder, trunk (chest and abdomen), and the around the eye. Most rhabdomyosarcomas occur in children although they can also occur in adults.

A rhabdomyosarcoma is a special type of cancer called a sarcoma. Sarcomas are cancers that develop from mesenchymal tissues such as fat, bone and muscle. There are four different kinds of rhabdomyosarcoma and each is called a histologic type.

The four different histologic types of rhabdomyosarcoma are:

  • Embryonal – This is the most common type of rhabdomyosarcoma and it typically occurs in children or young adults.

  • Alveolar – This is the second most common type of rhabdomyosarcoma. Like the embryonal type, it typically occurs in children although it can also occur in older adults.

  • Pleomorphic- This type of rhabdomyosarcoma typically occurs in older adults. Most tumours start in the arms or legs, but they can also start in the abdomen or pelvis.

  • Spindle cell/sclerosing – This type of rhabdomyosarcoma can occur in children and adults. In children, it is more common in boys and the tumour typically starts in the tissue near the testicles or in the head and neck region.

The histologic type can only be determined after the tumour has been examined under the microscope by a pathologist. Embryonal rhabdomyosarcoma more commonly affects children while pleomorphic and spindle cell/sclerosing rhabdomyosarcoma is much more common in adults.

The first diagnosis of rhabdomyosarcomas is usually made after a small sample of the tumour is removed in a procedure called a biopsy. The biopsy tissue is then sent to a pathologist who examines it under a microscope. Additional tests such as immunohistochemistry and fluorescence in situ hybridization (FISH) may also be performed to confirm the diagnosis.

After the pathologist makes a diagnosis of rhabdomyosarcoma, the patient is often treated first with chemotherapy and/or radiation therapy followed by surgery. The tumour is then removed completely as a resection specimen and sent to pathology for examination.

After surgical resection, the pathologist examines the tumour microscopically and provides your surgeon and oncologist with critical information required for your subsequent treatment.

Tumour size

These tumours are measured in three dimensions but only the largest dimension is typically included in the report. For example, if the tumour measures 5.0 cm by 3.2 cm by 1.1 cm, the report may describe the tumour size as 5.0 cm in greatest dimension.

 

Tumours less than 5 cm are associated with better prognosis.

Tumour size will only be included in your report after the entire tumour has been removed.

Histologic grade (French Federation of Cancer Centers Sarcoma Group/FNCLCC)

Grade is a word pathologists use to describe how different the cancer cells look and behave compared to normal cells in the same location. Pleomorphic and spindle cell/sclerosing type rhabdomyosarcomas are given a grade based on an internationally recognized system created by the French Federation of Cancer Centers Sarcoma Group (FNCLCC). Embryonal and alveolar type rhabdomyosarcomas are not given a grade because for these types of rhabdomyosarcomas, grade is not associated with prognosis.

According to this system, a pleomorphic or spindle cell/sclerosing rhabdomyosarcoma can receive a grade of 1 through 3. Grade 1 tumours are also called ‘low grade’ while grade 2 and 3 tumours are grouped together into a category called ‘high grade’. High grade tumours (grades 2 and 3) look and behave the least like normal cells and are associated with worse prognosis.

If you have been diagnosed with either a pleomorphic or spindle cell/sclerosing rhabdomyosarcoma, your pathologist will determine the French Federation of Cancer Centers Sarcoma Group grade of your tumour by looking for three microscopic features: tumour differentiation, mitotic count, and necrosis. Your pathologist will give each feature a certain number of points (from 0 to 3) and the total number of points determines the final grade of the tumour.

  • Tumour differentiation – Tumour differentiation describes how closely the cancer cells look like normal cells. Tumours that look very similar to normal cells are given are given 1 point while those that look very different from normal cells are given 2 or 3 points.

  • Mitotic count – A cell that is in the process of dividing to create two new cells is called a mitotic figure. Tumours that are growing fast tend to have more mitotic figures than tumours that are growing slowly. Your pathologist will determine the mitotic count by counting the number of mitotic figures in ten areas of the tumour while looking through the microscope. Tumours with no mitotic figure or very few mitotic figures are given 1 point while those with 10 to 20 mitotic figures are given 2 points and those with more than 20 mitotic figures are given 3 points.

  • Necrosis - Necrosis is a type of cell death. Tumours that are growing fast tend to have more necrosis than tumours that are growing slowly. If your pathologist sees no necrosis, the tumour will be given 0 points. The tumour will be given 1 point if necrosis is seen but it makes up less than 50% of the tumour or 2 points if necrosis makes more than 50% of the tumour.

The final grade is based on the total number of points given to the tumour:

  • Grade 1 – 2 or 3 points.

  • Grade 2 – 4 or 5 points.

  • Grade 3 – 6 to 8 points.

Necrosis

Necrosis is a form of cell death and it commonly occurs in cancers (malignant tumours). Your pathologist will closely examine the tumour for evidence of necrosis. Necrosis is used to determine the tumour grade (see Histologic grade above).

 

The presence of necrosis is important because it is associated with worse prognosis.

Tumour extension

Most rhabdomyosarcomas start inside of a muscle, but the tumour can grow into other organs or tissue outside of the muscle. Your pathologist will examine samples of the surrounding organs and tissues under the microscope to look for cancer cells. Any surrounding organs or tissue that contain cancer cells will be described in your report.

Perineural invasion

Nerves are like long wires made up of groups of cells called neurons. Nerves transmit information (such as temperature, pressure, and pain) between your brain and your body. Perineural invasion is a term pathologists use to describe cancer cells attached to a nerve.

 

Perineural invasion is important because cancer cells that have attached to a nerve can use the nerve to travel into tissue outside of the original tumour. For this reason, perineural invasion is associated with a higher risk that the tumour will come back in the same area of the body (local recurrence) after treatment.

Lymphovascular invasion

​Lymphatics and blood vessels are long tubes that allow fluid (lymph and blood, respectively) and cells to travel around the body. When cancer cells enter a lymphatic or blood vessel it is called lymphovascular invasion and is associated with a higher risk that cancer cells will travel (metastasize) to a lymph node or a distant site such as the lungs.

Margins

A margin is any tissue that was cut by the surgeon to remove the tumour from your body.  Depending on the type of surgery you have had, the margins can include bones, muscles, blood vessels, and nerves that were cut to remove the tumour from your body.

All margins will be very closely examined under the microscope by your pathologist to determine the margin status.  Specifically, a margin is considered ‘negative’ when there are no cancer cells at the edge of the cut tissue. Alternatively, a margin is considered ‘positive’ when there are cancer cells at the edge of the cut tissue.

A positive margin is associated with a higher risk that the tumour will recur in the same site after treatment (local recurrence).

Margins will only be described in your report after the entire tumour has been removed.

Treatment effect

If you have been diagnosed with rhabdomyosarcoma on a biopsy, you will often receive chemotherapy and/or radiation therapy before the operation to remove your tumour.  If you have received either of these treatments before your surgery, your pathologist will examine all the tissue sent to pathology to see how much of the tumour is still alive (viable).

There are different systems used to describe treatment effect for rhabdomyosarcoma. Most commonly, your pathologist will describe the percentage of tumour that is dead. 

Typically, a rhabdomyosarcoma showing 90% or more therapy response (meaning 90% of the tumour is dead and 10% or less of the tumor is still alive) is associated with better prognosis. 

Lymph nodes

Metastatic disease describes the process where cancer cells escape the main tumour and travel to another part of the body. Lymph nodes are small immune organs located throughout the body. Many cancers can spread to the lymph nodes, but rhabdomyosarcoma does this very rarely.  If lymph nodes were part of the surgery to remove your tumour, your pathologist will assess them under the microscope and report whether they are involved by tumour. 

If lymph nodes were removed as part of your surgery, then your report will include the total number of lymph nodes examined and the number that contain cancer cells.

Pathologic stage

​The pathologic stage for rhabdomyosarcoma is based on the TNM staging system, an internationally recognized system originally created by the American Joint Committee on Cancer.

 

Additional information including the location of the tumour and the surgery performed is used for children diagnosed with embryonal, alveolar, or spindle cell/sclerosing rhabdomyosarcoma. All of this information is then combined to determine the risk of the cancer coming back in the future.

 

The TNM system uses information about the primary tumour (T), lymph nodes (N), and distant metastatic disease (M)  to determine the complete pathologic stage (pTNM). Your pathologist will examine the tissue submitted and give each part a number. In general, a higher number means more advanced disease and worse prognosis.

 

Pathologic stage is not reported on a biopsy specimen. It is only reported when the entire tumour has been removed in an excision or resection specimen.

Tumour stage (pT) for rhabdomyosarcoma

The tumour stage for rhabdomyosarcoma varies based on the body part involved. For example, a 5 centimeter tumour that starts in the neck will be given a different tumour stage than a tumour that starts deep in the back of the abdomen (the retroperitoneum). However, in most body sites, the tumour stage includes the tumour size and whether the tumour has grown into surrounding body parts.

 

Tumour stage for tumours starting in the head and neck:

  • T1 – The tumour is no greater than 2 centimeters in size.

  • T2 – The tumour is between 2 and 4 centimeters in size.

  • T3 – The tumour is greater than 4 centimeters in size.

  • T4 – The tumour has grown into surrounding tissues such as the bones of the face or skull, the eye, the larger blood vessels in the neck, or the brain.

 

Tumour stage for tumours starting on the outside of the chest, back, or stomach and the arms or legs (trunk and extremities):

  • T1 – The tumour is no greater than 5 centimeters in size.

  • T2 – The tumour is between 5 and 10 centimeters in size.

  • T3 – The tumour is between 10 and 15 centimeters in size.

  • T4 – The tumour is greater than 15 centimeters in size.

 

Tumour stage for tumours starting in the abdomen and organs inside the chest (thoracic visceral organs):

  • T1 – The tumour is only seen in one organ.

  • T2 – The tumour has grown into the connective tissue that surrounds the organ from which is started.

  • T3 – The tumour has grown into at least one other organ.

  • T4 – Multiple tumours are found.

 

T-stage for tumours starting in the space at the very back of the abdominal cavity (retroperitoneum):

  • T1 – The tumour is no greater than 5 centimeters in size.

  • T2 – The tumour is between 5 and 10 centimeters in size.

  • T3 – The tumour is between 10 and 15 centimeters in size.

  • T4 – The tumour is greater than 15 centimeters in size.

 

Tumour stage for tumours starting in the space around the eye (orbit):

  • T1 – The tumour is no greater than 2 centimeters in size.

  • T2 – The tumour is greater than 2 centimeters in size but has not grown into the bones surrounding the eye.

  • T3 – The tumour has grown into the bones surrounding the eye or other bones of the skull.

  • T4 – The tumour has grown into the eye (the globe) or the surrounding tissues such as the eyelids, sinuses, or brain.

Nodal stage (pN) for rhabdomyosarcoma

Rhabdomyosarcoma  is given a nodal stage of 0 or 1 based on the presence of cancer cells in a lymph node. If no cancer cells are seen in any of the lymph nodes examined, the nodal stage is N0. If cancer cells are seen in any of the lymph nodes examined, the nodal stage becomes N1.


Metastatic stage (pM) for rhabdomyosarcoma

Rhabdomyosarcoma  is given a metastatic stage of 0 or 1 based on the presence of cancer cells at a distant site in the body (for example the lungs). The metastatic stage can only be determined if tissue from a distant site is submitted for pathological examination. Because this tissue is rarely present, the metastatic stage cannot be determined and is listed as MX.

Molecular tests

Each cell in your body contains a set of instructions that tell the cell how to behave. These instructions are written in a language called DNA and the instructions are stored on 46 chromosomes in each cell. Because the instructions are very long, they are broken up into sections called genes and each gene tells the cell how to produce piece of the machine called a protein.

Sometimes, a piece of DNA falls off one chromosome and becomes attached to a different chromosome. This is called a translocation and it can result in the cell making a new and abnormal protein. If the new protein allows the cell to live longer than other cells or spread to other parts of the body, the cell can become a cancer (a malignant tumour).

The alveolar type of rhabdomyosarcoma often contains a translocation that combines the genes for PAX3 or PAX7 with the genes for FOXOA1, NCOA1, or AFX which results in the production of an abnormal protein.

Pathologists test for these translocations by performing either fluorescence in situ hybridization (FISH) or next generation sequencing (NGS) on a piece of the tissue from the tumour. If you were diagnosed with the alveolar type of rhabdomyosarcoma, your report will say which test was performed and which translocation was found in the tumour.

Because the other types of rhabdomyosarcoma (embryonal, pleomorphic, and spindle/sclerosing) do not usually have translocations, no additional molecular tests may have been performed if you were diagnosed with one of these types of tumours.

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