Medical Mystery: She needed more than just an X-ray

Editor's note: Annette Smith, who lives in the Olney section of Philadelphia, was walking to the train station to go to work on Jan. 12, 2015, when she slipped on black ice and smacked her knee against a curb. "In that instant," she says, "my life completely changed." Smith, 56, agreed to let her physicians at Rothman Institute tell her story. Sommer Hammoud presents the mystery and John Abraham presents the solution.

Last winter, Annette Smith came to our Bensalem office complaining of knee pain after slipping and falling on some ice. She had gone to a local emergency room, where she was examined and taken for X-rays. They initially didn't find anything wrong and sent her home on crutches with a prescription for some medicine and orders to follow up with an orthopedic specialist.

She visited our office soon after. I performed a physical exam and ordered a new set of X-rays. I found she did have a fracture in her knee, which was not seen in the ER.

But her images also showed something surprising that seemed to have nothing to do with her fall.

There was an abnormality in the knee. I didn't know exactly what it was, so I ordered a magnetic resonance imaging (MRI) exam. The MRI is a much more sophisticated test. Unlike an X-ray, which primarily shows the bone, the MRI also gives us detailed imaging of the soft tissue, bone marrow, and all the other structures in the leg.

The MRI results confirmed my suspicions that Annette had a much bigger problem than simply a fractured bone.

I spoke with Annette, telling her I wanted her to see my colleague John Abraham, who is an orthopedic oncologist. Orthopedic oncology is a sub-specialty branch of orthopedic surgery that deals with cancer of the bone and soft tissue, as well as benign tumors that occur in the arms and legs.

Abraham, I assured her, would be able to determine what was going on in her knee.

I met with Annette Smith in my office and spoke to her in detail about her injury. She told me her leg had been hurting her for quite some time prior to her fall.

I reviewed her records and could immediately see the tumor in her leg. I ordered a new set images focused on the abnormality in her knee, to see whether any changes had occurred. We performed a biopsy of her bone at our Bone and Soft Tissue Tumor Center.

The biopsy confirmed my suspicions: She had a giant cell tumor of the bone, a rare, aggressive tumor that is not cancerous, but still tends to destroy the bone.

These tumors form spontaneously for no known reason, often in the bones of the knee joint. To diagnose this rare tumor, a sample of the tissue is studied under a microscope. The identifying feature of this tumor: Many large cells formed by 50 to 100 smaller cells jelling together.

Next, our Bone Oncology Team - consisting of myself, a bone specialized medical oncologist and radiation oncologist, musculoskeletal radiologists, and a bone pathologist - met to discuss her case. All members of the team then met with Annette to explain our proposed treatment plan and answer all of her questions in one visit.

Fortunately for Annette, we have a new medication that helps to shrink the tumor, making the complex surgery she would need to remove it more effective. It also could reduce the risk of the tumor coming back later. Knowing the tumor was still in her leg for the five months she was on the drug therapy made Annette understandably nervous, but imaging showed the tumor clearly was responding.

The next step was surgery. Annette needed a "limb salvage" operation, a difficult procedure that makes it possible to save limbs that in the past had to be amputated.

Annette's tumor was very delicately separated from each individual nerve and blood vessel in her leg. Then the femur (upper leg) bone was cut and the entire segment of bone containing the tumor was removed. We were careful to get the entire tumor, as any tumor cells left behind would form a new tumor.

Yet we also preserved all of the nerves and vessels of the leg so that she would have normal function after the surgery.

We then replaced Annette's femur with a metal implant shaped like a normal bone. To connect this new metal femur to the rest of her knee, a complex form of a common surgery - knee replacement - was done at the same time.

Since her surgery, Annette has done extraordinarily well. With aggressive rehab and a strong attitude, she was able to progress from a walker, to a cane, to normal walking. She is now over a year post-op, and has no pain, excellent function, and no sign of a new tumor.

Since giant cell tumor can recur in up to 40 percent of cases, we must monitor her closely. But we were happy to tell her that since we were able to remove her entire tumor during the operation, the chance of the tumor coming back is much lower.

Annette's outcome was the result of a true team effort, starting with the initial recognition by my sports medicine colleague, to the multidisciplinary approach to treatment, to Annette's own hard work.

Annette has told me that she will know she is fully recovered when she can do two things: dance and bowl.

With the dedication she has put into her recovery I have no doubt she will be back on the dance floor and on the lanes in no time.

John Abraham, M.D. is director of the Musculoskeletal Oncology Center at Thomas Jefferson University Hospital and the Kimmel Cancer Center, and chief of the Orthopedic Oncology service at the Rothman Institute.

Sommer Hammoud, M.D., is an orthopedic surgeon at Rothman Institute specializing in sports-related injuries of the knee, shoulder and elbow; and is an assistant professor of orthopedic surgery at Thomas Jefferson University.