Why TGCTs can take 3 to 4 years to diagnose

If you have a tenosynovial giant cell tumor (TGCT) and have been misdiagnosed, you are not alone. Many people who have TGCTs experience delays in diagnosis of 3 to 4 years.

TGCT refers to a group of tumors that form in the tissues inside and around the joints. These tumors are typically benign (meaning they are not cancerous), though there are very rare cases of TGCTs that are cancerous.

These types of tumors are rare. According to the National Organization for Rare Disorders (NORD), tenosynovial giant cell tumors affect 43 out of every million people worldwide. (However, data about the prevalence of TGCTs is limited, and some studies have found slightly higher numbers).

Because fewer people are aware of rare disorders—including fewer healthcare providers—misdiagnosis can occur. This is especially true when a rare disorder causes symptoms that are also caused by much more common conditions, as is the case with TGCTs.

A delay in diagnosis is often stressful and frustrating for a person with a TGCT. It can prolong the time that a person is experiencing uncomfortable symptoms and living with pain. Delays in diagnosis also mean delays in getting treatment.

Types of TGCTs

Symptoms will vary depending on the type of TGCT.

Diffuse-type TGCTs refer to multiple tumors that are spread throughout a joint. This type typically affects larger joints like the knees, hips, elbows, ankles, and shoulders (though they can affect other joints as well). Symptoms can include joint pain, swelling, stiffness, and the skin above the joint feeling warm to the touch.

Localized types of TGCT refer to cases where there is one tumor affecting one part of a joint. This type most often occurs in smaller joints like the hands and feet. Painless swelling is a common early symptom, but localized TGCTs can also be painful.

Both diffuse and localized types of TGCTs can impair the normal functioning of the joint and cause damage to the joint. Many people with TGCTs require multiple surgeries, and the condition can be a significant financial burden.

Common symptoms, uncommon cause

The symptoms caused by TGCTs can be caused by many different conditions. Swelling, pain, stiffness, and tenderness are all symptoms of arthritis, a condition which affects tens of millions of people in the United States. These can also be symptoms of an injury to a joint, such as tendonitis or bursitis, which are also much more common than TGCTs.

Other types of joint tumors

Even after a healthcare team has determined that there is a tumor in the joint that is causing symptoms, there is the process of identifying the type of tumor and whether it is cancerous. This involves a close examination of the cells and tissues that make up the tumor, and compiling that information into a pathology report.

TGCTs are not the only type of tumor that can affect the joint. Determining the type of tumor is essential to determining the best approach to treatment. TGCTs are most often treated with surgery. Radiation therapy is used in some cases.

While there are few medication options available to treat TGCTs, medical researchers are studying a number of drug therapies to treat TGCTs. Drug therapies are something worth looking into and discussing with a healthcare team.