What is Desmoid Fibromatosis?
Desmoid Fibromatosis are basically a medical condition in which abnormalities in fibroblasts give rise to tumors also referred as desmoid tumors. Fibroblasts are specials cells that provide structural support and helps in protection of most of the important organs in our body like skin, liver, lung, kidneys, blood vessels, heart, intestines etc… These cells are present all over in our body and also help in healing of wounds. In case of desmoid fibromatosis, these cells start to change their genetic structure and become cancerous.
Mostly, the cases of desmoid fibromatosis have been reported in women especially when they are in their 30’s, but in general it can affect both male and female and in any age group. The rate of mutation of fibroblasts cells leading to desmoid fibromatosis can vary from one person to another. It can be very aggressive in some individuals while very slow in others.
Usually in case of slow growing desmoid fibromatosis, experts can detect it earlier and able to start treatment early. On the other hand in case of aggressive desmoid fibromatosis, they are rarely detected early leading to life threatening complications. In some cases, the situation can even result in death due to compression of vital organs of the human body including lungs, nerves, kidney, intestine, heart etc… The only good thing about desmoid fibromatosis is that the mutation usually remains constrained to one part without spreading to other parts of the body.
Facts about Desmoid Fibromatosis
Desmoid fibromatosis is known to affect women more as compared to men. According to statistics, risk of desmoid fibromatosis in case of women is twice as compared to that in men. While it can affect an individual belonging to any age group, large cases have been reported in case of individuals lying in the age group of 15-60 years. The occurrence of this disease is very rare as we can see from the figures. Only about 900 cases of desmoid fibromatosis are reported every year in United States, which means that hardly 2-4 out of every million people suffer from this disease. However, there are many cases of desmoid fibromatosis that remain undiagnosed or unreported and thus the figure can be much higher as suggested by the figures.
Causes of Desmoid Fibromatosis
Desmoid fibromatosis is caused due to mutation or change in genes of fibroblasts cells but the cause of mutation is still not known. Researchers are still trying to figure possible reasons for mutation. Usually, the gene which suffers mutation in most cases of desmoid Fibromatosis is beta catenin. Familial Adenomatous Polyposis or FAP is another gene which suffers mutation in a few cases. Desmoid fibromatosis resulting due to mutation in FAP are prone to developing polyps in intestine which ultimately leads to colon cancer. In some cases mutation can occur in both FAP and beta catenin, such situation is referred as Gardner’s Syndrome in medical science.
It is also seen in very rare instances that women can develop desmoid fibromatosis during pregnancy or after giving birth through surgery. It is believed to occur due to hormonal changes and surgery but this theory lacks any strong scientific support. Moreover, it is very rare to have desmoid fibromatosis resulting out of pregnancy.
Tests to Diagnose Desmoid Fibromatosis
Desmoid fibromatosis is diagnosed using a biopsy. Initially, the doctor or the medical expert examines soft tissue tumor using ultrasound followed by CT scan or MRI. MRI or CT scan helps in determining whether or not the affected tissue can be safely removed using suitable surgical methods.
There are various types of biopsy that can be used for diagnoses of desmoid fibromatosis. In case of core needle biopsy, a very small portion about 10 mm long and 1 mm wide is sucked out using needle for examination. In case of incisional biopsy, a small portion of the tumor is removed by making a small incision while excisional biopsy involves removal of complete tumor that is visible.
Treatment for Desmoid Fibromatosis
In case a person is diagnosed with desmoid fibromatosis, it is strongly recommended to go for detailed medical evaluation by sarcoma experts in any of the reputed National Comprehensive Cancer Network Hospitals. Usually, it requires a detailed evaluation from multiple experts involving medical oncologists, surgeons, geneticists, radiation oncologists etc to properly evaluate the situation.
Surgery for Desmoid Fibromatosis
Desmoid fibromatosis can be removed using surgical methods after evaluating the possibility of surgery. However, surgical removals are not always successful in permanently removing tumors. About 25 to 40 percent of patients have reported reoccurrence of tumor is the same or nearby locations after getting tumor removed completely using surgery. However, the risk of reoccurrence or tumor can be predicted in advance before the surgery. This can be done by an analysis which can generate a score suggesting the chances of reoccurrence of tumor with higher score indicating higher risk of reoccurrence. Thus a person can know in advance and take a decision on whether or not to go for surgical removal of tumor in desmoid fibromatosis. Surgery for treating desmoid fibromatosis is often kept as the last option as it is very complicated and not always feasible. There are other alternatives involving radiation therapy, medical therapy and drugs.
Radiation Therapy for Treating Desmoid Fibromatosis
Radiation therapy for treating desmoid fibromatosis is an alternative treatment in which the portion of the body containing tumor is exposed to radiations. This therapy is usually continued for a time period of 6 to 8 weeks. Radiations can cause tumor to shrink but it can take months even years to see any signs of shrinking. This therapy is not suitable for intra-abdominal tumors as these harmful radiations can harm vital organs in the surroundings. Moreover, radiation therapy also poses the risk of developing other type of cancers due to exposure to harmful radiations.
Medical Therapy for the Treatment for Desmoid Fibromatosis
There are various types of medical therapies for treating desmoid fibromatosis that can have varying effect on different individuals. Chemotherapy is the most popular drug that is directly injected into the veins. Commonly used chemotherapies are Doxil, dacarbazine, doxorubicin, vinorelbine, methotrexate and vinblastine. However, chemotherapy can have various side effects including short term as well as long term effects.
New Drugs in Treatment of Desmoid Fibromatosis
Researchers at different centers are trying to find out new drugs that can work effectively against desmoid fibromatosis. Some of the new drugs include tyrosine kinase inhibitors, sorafenib etc…