Optimizing Outcomes in Tenosynovial Giant Cell Tumors - Episode 5

TSGCT: Impacts of Delay in Diagnosis or Misdiagnosis


Shreyaskumar R. Patel, MD: The general dictum is that early diagnosis is very important, and I think that’s true for all of what we do in the clinic. What do you think would be the impact of a delay in diagnosis? I’m sure you have had personal experiences where that did make a difference. If you can share with our audience the importance of timeliness of diagnosis and the appropriate institution and treatment, that might help everybody.

Tae Won B. Kim, MD: The biggest impact a patient feels at diagnosis is that they’ve been suffering for a long time, especially with diffuse-type disease in the hips and the knees. They can be very uncomfortable and in that position for a very long time.

The localized-disease types can also cause pain, even though it’s not necessarily all in a joint. Some of the localized-disease types, especially in the knee or in the hip, tend to occur in very tight areas around the joints. Sometimes, with activity, they can be irritated and recurrent hemarthrosis can occur. Where we get into trouble is in the larger joints, such as the knee and the hip. The recurrent hemarthrosis can cause joint damage or injury that’s irreversible. A delay in diagnosis can significantly erode the joint to the point where somebody who could have saved themselves from a joint replacement ultimately ends up having to have 1 as part of their treatment.

Some of the localized-disease types tend to be very large and have very significant involvement of the joint itself or around the joints. Sometimes, local control is very difficult to achieve, even with local surgery. Functionally, it may not do so well. In some of those patients, you may need an amputation. A recent patient we saw has, in the distal first ray of the foot, what you would consider a local disease based on its location, but it’s very diffuse disease. The only real option there is likely going to be a ray amputation to take care of those soft tissues. It can be challenging, and if you delay the diagnosis, you sometimes need to escalate the patient’s care beyond surgical removal of the tumor itself.

Shreyaskumar R. Patel, MD: Inherent in that delay-of-diagnosis question is also the concept of a wrong diagnosis. I think all of us treat the higher-grade, more aggressive sarcomas, rare as they can be in the joint cavity. Sometimes, those misdiagnoses can have a great deal of impact. Let me see if my medical oncology colleagues have some comments. Bob, Gina, do you want to add anything to the general discussion thus far on the differential diagnosis from a sarcoma medical oncologist’s perspective?

Gina Z. D’Amato, MD: The main thing is to make sure the pathology is being reviewed by an expert pathologist. That’s going to be very important because there are over 170 different types of sarcomas, ranging from the benign conditions to the very aggressive conditions, and some of these entities can have similar features histologically when looking under the microscope. There is special staining to look at those different antibodies and different proteins that are involved. It’s really important because you don’t want to be treating clear cell sarcoma or synovial sarcoma as a TGCT [tenosynovial giant cell tumors], so the expert pathology review is really important.

Shreyaskumar R. Patel, MD: Bob?

Robert G. Maki, MD, PhD: Those are certainly 2 other sarcoma diagnoses that you worry about regarding the knee. It’s not necessarily in the joint space itself but in the tendons around the knee. Synovial sarcoma and clear cell are important. In the younger patient, we certainly see a lot of osteosarcoma around the knee and the distal femur and proximal tibia. In a younger patient, that certainly complicates the diagnosis, but that should show up in those first x-rays that Dr John Abraham mentioned. It’s all part of that spectrum of tumors that we worry about that end up in the hands our colleagues Dr Kim and Dr Abraham: sarcomas surrounding the knee.

Transcript Edited for ClaritySupported by an unrestricted educational grant from Daiichi Sankyo.