Synovial sarcoma of the elbow presenting with painful stiffness: a case report

Abstract

Elbow stiffness is a challenging problem for the upper extremity surgeon to treat. It can significantly impact the patient’s function in activities of daily living. While the most common etiologies are post-traumatic or secondary to arthritis, a large variety of etiologies should be considered with atypical presentations. It is important that the upper-extremity surgeon have a systematic approach to the diagnosis and management of elbow contracture in order to ensure malignant processes are considered. We present an unusual case of a young patient with atraumatic, non-arthritic elbow stiffness whose underlying diagnosis was a synovial sarcoma, as well as a review of the literature and differential for elbow stiffness.

Level of evidence: IV.

Introduction

As the primary function of the elbow is to position the hand in space, elbow stiffness can significantly affect the patient’s ability to perform activities of daily living (ADLs). In 1981, Morrey et al. demonstrated that a functional arc of motion of 30° to 130° was needed for most ADLs. ¹ This has since been updated ² for contemporary activities such as using a keyboard or cell phone which require a flexion arc of 23° to 142°. Specific work- or sport-related activities, however, may require more range of motion (ROM) for the individual patient.

The elbow has a propensity for developing stiffness due to a variety of causes. The most common etiology is post-traumatic, and it was with this in mind that Morrey proposed a classification based on the pathoanatomy of the elbow. ³ This organizes contractures into extrinsic, or not involving the joint, intrinsic, involving intra-articular adhesions with articular cartilage damage, or mixed. While most cases can be attributed to traumatic and/or arthritic changes, absence of these underlying factors warrants a broader differential. It is important that the upper-extremity surgeon have a systematic approach to the diagnosis and management of elbow contracture in order to ensure malignant processes are considered. Our purpose is to present an unusual case of a young patient with atraumatic, non-arthritic elbow stiffness whose underlying diagnosis was a synovial sarcoma.

Case

A 24-year-old woman presented with a five-year history of slowly progressive right elbow pain and stiffness. The pain was constant, diffuse and radiated towards the shoulder. ROM was documented as 30°–90° flexion-extension arc. She had subjective numbness within the hand but no weakness. She had previously undergone a right elbow arthrotomy and debridement by the referring community surgeon but unfortunately had persistent pain and recurrent stiffness. Past medical history was otherwise non-contributory. Review of systems revealed no other joints involved or any associated inflammatory symptoms. There was no history of erythema, swelling or local trauma. Family history was negative, and she had no limitation of elbow motion as a child.

Physical examination demonstrated an active ROM of 45°–110° flexion-extension with 80° each of supination and pronation and soft endpoints. Her previous surgical scar was well healed. There was tenderness over the medial side of the elbow, including her flexor-pronator mass. This was worsened with resisted wrist flexion. Neurovascular examination was unremarkable.

Investigations included plain radiographs as well as an MRI of the right elbow. The MRI was reported to have a 7 × 13 × 7 mm cystic-like mass anterior to the trochlea, “most likely a ganglion” (Figure 1). This was hyperintense on T2-weighted images and hypointense on T1. Both initial plain radiographs as well as a subsequent CT scan were unremarkable. A bone scan demonstrated only slight uptake in 99mTc MDP in the elbow in comparison to the contralateral elbow. Electromyography and nerve conduction studies were unremarkable.

Figure 1.

Plain radiographs demonstrate no bony block to motion (a). T1- and T2-weighted MRI axial images demonstrate a mass anterior to the trochlea (b and c), also seen on sagittal T2-weighted MRI (d).

Due to persistent disabling stiffness and pain, an open contracture release, capsulectomy, and synovectomy were performed. The previous lateral incision was extended, and a lateral column procedure ⁴ was performed anteriorly and posteriorly to the lateral collateral ligament using Kocher and Kaplan intervals. A subtotal capsulectomy was performed. The articular cartilage was normal and there was minimal synovitis. However, a pale tan-coloured 2 × 1.5 × 0.9 cm thickening within the anterior capsule near the coronoid fossa was seen and excised. This was sent for both extended bacterial and fungal cultures as well as pathology. Full intra-operative ROM was achieved. The ulnar nerve was decompressed in situ through a separate medial skin incision.

Histological examination of the mass suggested synovial sarcoma, which was confirmed with cytogenetic testing for SYT translocation of 18q11.2. This translocation is present in over 95% of synovial sarcomas. ⁵ There were grossly positive margins. She was referred to an orthopaedic oncologist in a multi-disciplinary sarcoma centre for management. Although there were positive margins, given the mass was small and disease progression was very slow over the last five years; high dose radiation therapy was administered in 33 fractions totaling 66 Gy. Her pain improved and her ROM remained stable at 35°–135° with physiotherapy and nighttime extension splinting. She was followed with regular physical examinations and serial MRIs.

Unfortunately, after 1.5 years the patient developed recurrent stiffness and pain. An MRI confirmed a local recurrence of the tumor measuring 1.6 × 0.6 × 1.3 cm anterior to the trochlea, with no evidence of systemic disease on staging. Several treatment options were considered, including revision resection with planned close margins, wide resection of the distal humerus with prosthetic reconstruction, or amputation. Given her young age and high function, revision resection with planned close margin of the periosteum of the anterior distal humerus was performed. Complications included a radiation-induced severe ulnar nerve palsy secondary to brachytherapy catheter placement that required ulnar nerve neurolysis and anterior interosseous nerve transfer. ROM was reduced following this surgery at 60°–128°. Despite revision resection brachytherapy, at one year she developed a recurrence with bony involvement. At this stage she elected to undergo trans-humeral amputation and remains metastasis-free four years post-amputation.

Discussion

Soft tissue tumors in the elbow are rare, accounting for 3.8% of all soft tissue tumors. ⁶ Although 15–30% of soft tissue sarcomas occur in the upper extremity, those in the elbow are rarer still at <1% of all soft tissue sarcomas. When soft tissue sarcomas do occur in the elbow, synovial sarcoma is one of the most common, and typically present in adolescence or young adulthood. ⁷ While synovial sarcoma is a very rare cause of elbow stiffness, we present this case to highlight the importance of having a systematic approach to diagnose the etiology of elbow contractures. Our purpose is to briefly review the etiology of this patient’s stiffness as well as provide this systematic approach for the upper-extremity surgeon.

Synovial sarcomas do not actually arise from synovium and were originally named for their appearance under light microscopy of normal synovium. ⁸ They can occur either extra- or intra-articularly. Generally these tumors grow slowly; however, when they arise in the elbow they are often symptomatic due to the proximity of neurovascular structures and highly constrained anatomy. ⁹ This also makes resection of these tumors particularly challenging. Soft tissue sarcomas in the upper extremity are more likely to undergo unplanned excision and have higher local recurrence than the lower extremity. ¹⁰ Synovial sarcomas often present atypically from that of other soft tissue sarcomas and frequently have a delayed diagnosis as a result. ¹¹

Local recurrence of synovial sarcoma is 30–50%; and is higher with marginal excision. ¹² The gold standard treatment is wide surgical resection. Neoadjuvant radiation is typically part of management to reduce local recurrence and progression-free survival.^13,14 Chemotherapy may be indicated in advanced or metastatic disease as the tumor is relatively chemosensitive. ¹⁵

There are few published case reports of synovial sarcoma in the elbow. In 1989, Rinehart et al. ¹⁶ reported on a synovial sarcoma found embedded within the median nerve under the pronator teres. They performed a wide resection and sural nerve grafting of the median nerve. A few cases of synovial sarcoma in the elbow or proximal forearm are included in a larger series of soft tissue sarcomas.^17,11 More recently, two small case series detail surgical management for synovial sarcoma specifically in the elbow.^18,19 Schwab et al. describe their experience with wide en bloc excision of five sarcomas, including two synovial sarcomas. ¹⁹ Both received neoadjuvant radiation and wide resection which were reconstructed with an allograft-prosthetic composite (APC) using a linked total elbow. One patient also had resection of the radial nerve with the tumor mass and tendon transfers were performed to restore hand function. All five patients had a pedicled latissimus dorsi myocutaneous rotation flap for wound coverage. While none of the patients had local recurrence, one patient with synovial sarcoma developed lung metastases and eventually died of disease.

Schwab et al. recognized that due to the compact anatomy of the elbow, in order to achieve adequate margins of resection significant excision of skin, triceps, brachialis, major nerves and vessels is often required. Immediate tendon transfer or nerve grafting was performed if necessary. They allowed early active assisted motion of the elbow at three weeks after wound healing and active motion at six weeks. Mean Mayo Elbow Performance Score ²⁰ was 91 (range 85–95) at final follow-up (20–105 months). Mean arc of motion was 106° and all were able to extend the elbow against gravity. They acknowledge that indications for these reconstructions are not well defined, and the long-term durability of APCs is unknown in this patient population. No outcome studies of above-elbow amputation are available in the literature; however, prosthetic options and compliance remain suboptimal for amputations at this level. Another reported reconstructive option is total allograft transplantation of the elbow. ¹⁸ This may be appealing in young patients with higher functional demands than a total elbow arthroplasty can allow. However, this has historically been associated with complications in up to 70% of patients and suboptimal durability. ²¹

In order to preserve as much function as possible within the elbow and avoid significant complications, orthopaedic surgeons should evaluate patients with atypical presentations of elbow contracture in an organized fashion. Classifications can sometimes help the clinician with this approach. Morrey ²² developed a classification based on etiology and anatomical structure: extrinsic, or contractures not involving the joint; intrinsic, those involving the joint; or mixed. Extrinsic contractures may involve the joint capsule, collateral ligaments, heterotopic ossification or extra-articular malunions. Intrinsic contractures involve intra-articular adhesions, intra-articular malunions or loose bodies and osteophytes. Mixed contractures are usually extrinsic contractures that result secondary to intrinsic pathology. We use this classification as a basis to provide a thorough differential diagnosis for elbow contracture (Table 1).

Table 1.

Etiologies of elbow stiffness.

Traumatic

Fracture

Dislocation

Elbow surgery/iatrogenic

Arthritic

Osteoarthritis

Inflammatory arthritis

Post-septic arthritis

Multiple hemarthroses/hemophilia

Skin

Burns

Scars

Congenital

Neonatal brachial plexus palsy

Arthrogryposis

Congenital radial head dislocation

Congenital pseudoarthrosis

Neurologic

Traumatic head injury

Spasticity (stroke, cerebral palsy, etc.)

Tumors

Benign (ex. synovial chondromatosis, lipomas, tenosynovial  giant cell tumor, osteoid osteoma, etc.)

Malignant (soft tissue or bone)

Metastasis

To start, a thorough clinical assessment of elbow contracture is necessary, particularly when the etiology is unclear. History of the onset, progression, duration and associated pain or instability should be elicited. Duration since childhood, for example, can quickly prompt the surgeon to consider etiologies such as congenital radial head dislocation, arthrogryposis, or an upper brachial plexus palsy. In the absence of a history of fracture, dislocation, previous surgery or arthritis, less common causes should be considered, such as head injuries for heterotopic ossification, hemophilic arthropathy, infectious arthritis such as tuberculosis and fungi, or previous burns or significant scars in the elbow.

After a detailed history and physical examination, plain radiographs often reveal a large majority of bony causes of contracture. Targeted blood tests, such as CBC, CRP/ESR, or a rheumatologic workup, should be considered if inflammatory, septic, or hemophilia-related arthridites are suspected. A CT scan can be useful to detect osseous abnormalities such as osteophytes, heterotopic ossification or loose bodies not visualized on plain radiographs. If these are negative, or if a soft tissue cause is suspected, an MRI with gadolinium should be obtained to evaluate the benign or malignant lesions. Gadolinium can provide valuable diagnostic detail, and these MRIs should be interpreted by a musculoskeletal radiologist familiar with soft tissue tumors.

Both benign and malignant tumors can present with elbow stiffness. Synovial osteochondromatosis, for example, is a monoarticular metaplastic proliferative disorder that can present with diffuse joint pain, locking and stiffness and has a predilection for the elbow. ¹³ The majority of these cases can be identified on plain radiographs, which demonstrate multiple, well-rounded, intra-articular loose bodies. ¹³ Although benign, up to 5% of these can transform into chondrosarcoma, particularly if cortical erosion is seen. ²³ Another locally aggressive tumor that can present with elbow stiffness is tenosynovial giant cell tumor (formerly called pigmented villonodular synovitis). Along with pain and stiffness, recurrent effusions and posterior interosseous nerve palsy can occur. ²⁴ MRI had a positive predictive value of 85% when signal attenuation by hemosiderin is seen with low signal on T1 and T2. ²⁵ Other soft tissue benign tumors that occur in the elbow, such as lipomas, desmoid tumors and schwannomas can present variably but tend not to have stiffness as a primary complaint. Benign bone tumors occurring in the elbow include osteoid osteoma, giant cell tumors, aneurysmal bone cysts, and fibrous dysplasia. These also tend to present with pain, swelling, and in the latter three, pathologic fractures; stiffness is generally a secondary symptom. ²⁶ Malignant soft tissue and bone tumors that present with elbow stiffness are rare but warrant consideration. Soft tissue sarcomas in the elbow are most often synovial sarcoma, myxofibrosarcoma, or undifferentiated pleomorphic sarcoma (formerly called malignant fibrous histiocytoma). ¹³ Similar to synovial sarcoma, myxofibrosarcomas and undifferentiated pleomorphic sarcomas are often associated with unplanned excision and therefore have a high rate of local recurrence of 15–60%.^27,28 Myxofibrosarcoma in particular have high local recurrence that may be due to their highly infiltrative nature with long, high signal “tail” seen on MRI that requires wide resection. ¹³ Primary bone tumors of the elbow are rare in the literature; most of the information comes from two registry-based case series totalling 34 patients collected over six decades.^29,30 They typically present at an older age than benign tumors (average age 45 and 49 years in Halai et al. and Bruguera et al., respectively) with rest pain and swelling in over 70% of cases.^29,30 High-grade osteosarcoma and Ewing sarcoma were the most common malignant tumors, and many presented with metastatic disease. In Halai et al.’s study, five-year survival for the high-grade osteosarcomas was 14% and 50% of the Ewing sarcomas died within two years of surgery, though many of these cases were in the 1970–1980s and likely does not reflect current five-year survival rates.

Conclusion

Elbow stiffness and contracture can significantly alter patients’ functional abilities and can be challenging for the upper extremity surgeon to manage. Although the majority of patients with elbow contractures are due to post-traumatic or arthritic causes, we present this unusual case of synovial sarcoma to stress the importance of considering malignant processes when elbow stiffness presents with pain the absence of prior trauma or arthritis. Synovial sarcomas can be challenging cases to treat and reconstruct; collaboration between the upper extremity surgeon and the orthopaedic oncologist is recommended.