This article will help you read and understand your pathology report for deep fibromatosis.
by Bibianna Purgina, MD FRCPC, updated on December 9, 2020
The human body is made up of many different types of tissue. Mesenchymal tissues include fibrous tissue, nerves, fat, muscle, tendons, ligaments, bone and cartilage.
Deep fibromatosis is a type of benign (non-cancerous) tumour. Most tumours start in fibrous tissue. Other names for deep fibromatosis are desmoid tumour, aggressive fibromatosis, abdominal fibromatosis, extra-abdominal fibromatosis, and intra-abdominal fibromatosis. The name used depends on where in the body the tumour was located.
Deep fibromatosis typically develops in teenagers and young adults and the tumour can sometimes cause pain. Deep fibromatosis are non-cancerous tumours but the tumour can come back in the same area (local recurrence) after surgery. The tumour cells in deep fibromatosis will not, however, spread to other parts of the body, as cancers are known to do.
Deep fibromatosis can run in families and are seen in genetic syndromes including Familial Adenomatous Polyposis syndrome (APC)/Gardner syndrome or familial desmoid syndrome.
Abdominal fibromatosis develops in or near the muscles in the wall of the abdomen of women, usually during or after pregnancy and can develop in a Cesarean section scar. Extra-abdominal fibromatosis usually develops in or near the muscles of the shoulder, chest, back or thigh and can affect men and women equally. Intra-abdominal fibromatosis develops in the fat around the bowel or in the pelvis or the back of the abdomen (an area referred to as retroperitoneum).
There are different ways to treat deep fibromatosis. Your surgeon may recommend doing nothing, especially if it is a small tumour that is not growing and not causing you any symptoms. Alternatively, your surgeon may recommend removing the tumour. Some patients are offered chemotherapy or radiation therapy for large tumours or for tumours that have come back after being previously removed (local recurrence).
The diagnosis of deep fibromatosis is usually made after a small piece of the tumour is removed in a procedure called a biopsy. The tissue is then sent to a pathologist who examines it under a microscope. Sometimes additional tests such as immunohistochemistry or molecular testing may be performed to confirm the diagnosis.
When viewed under the microscope, the tumour cells in deep fibromatosis look like the cells that make up normal fibrous tissue. These cells are called fibroblasts and myofibroblasts and they form a mass that grows into the surrounding normal tissues.
Because the border between the tumour and the surrounding tissue is not easy to see, most surgeons will remove the tumour with some normal looking tissue in order to make sure the entire tumour is removed. The normal tissue removed with the tumour is called a margin.
Because deep fibromatosis can look like other tumours that develop from fibrous tissue, it can be difficult for your pathologist to make a definite diagnosis of deep fibromatosis with only the small amount of tissue provided with a biopsy. However, your pathologist may suggest this diagnosis as a possibility to your clinician in the pathology report.
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.
If the DNA becomes damaged or if it cannot be read accurately, the cell will be unable to produce the proteins it requires to function normally. An area of damaged DNA is called a mutation and mutations are one of the most common causes of cancer in humans.
Some patients, however, inherit particular genes that put them at a much higher risk for developing cancer. These people are said to have a syndrome and the most common syndromes associated with deep fibromatosis are Familial Adenomatosis Polyposis Syndrome/Gardner Syndrome and familial desmoid syndrome.
Deep fibromatosis in patients that have Familial Adenomatosis Polyposis Syndrome/Gardner Syndrome is caused by the inherited mutations in the APC gene. Most deep fibromatoses that develop in patients without a genetic syndrome, have mutations in the CTNNB1 gene (also known as beta-catenin gene).
Pathologists can test for these genetic changes by performing next generation sequencing (NGS) on a piece of the tissue from the tumour. This type of testing is can be done on the biopsy specimen or when your tumor has been surgically removed.
Beta catenin is a protein that is normally found in the body of the cell in an area called the membrane. The tumour cells in deep fibromatosis make beta-catenin just like normal healthy cells. However, instead of moving to the cell body, the beta-catenin in deep fibromatosis stays in the nucleus of the cell.
Pathologists can see where a protein is located inside of a cell by performing a test called immunohistochemistry. Most pathologists will describe the result as being normal if the beta-catenin protein is found in the cell body or along the membrane of the cell. If the beta-catenin protein is found mostly in the nucleus of the cell, this is considered abnormal and may be associated with a mutation in the genes for either APC or CTNNB1.
After the tumour is completely removed your pathologist will measure it in three dimensions but only the largest dimension is typically included in your 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.
Deep fibromatosis are usually poorly-defined tumours that grow into or around neighbouring muscles, bone and blood vessels. Your pathologist will examine samples of the surrounding tissues under the microscope to look for tumour cells. Any surrounding organs or tissues that contain tumour cells will be described in your report.
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. A margin is considered negative when there are no tumour cells at the edge of the cut tissue. A margin is considered positive when there are tumour 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).