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Monophasic spindle cell synovial sarcoma of the head and neck: Report of two cases and review of the literature
J
Oral MaxillofacSurg
52:309-313.
1994
Monophasic Spindle Cell Synovial Sarcoma of the Head and Neck: Report of Two Cases and Review of the Literature MICHAEL
MILORO, DMD, MD,9 PETER D. QUINN, DMD, MD,t AND JEFFERY C.B. STEWART, DDS, MS+
Report of Cases
Synovial sarcoma is a malignant tumor of primitive undifferentiated mesenchymal origin comprising up to 10% of all soft tissue sarcomas.’ The classic histopathologic biphasic synovial sarcoma, consisting of two distinct cell types in varying proportions and patterns, is easily recognized. The epithelial component is composed of cuboidal to columnar cells that commonly form duct-like structures, adjacent to fascicles of spindle-shaped cells with oval nuclei and indistinct cytoplasm. Controversy exists in the literature regarding the presence of a monophasic variety of synovial sarcoma, which fails to display epithelial cells and is composed exclusively of broad sheets of spindle cells. Some pathologists are hesitant to confirm the presence of synovial sarcoma when only one cell type, either spindle or epithelial, is present, because the differential diagnosis of histologically similar tumors is extensive. Mackenzie* states that histologic identification of the biphasic pattern is mandatory in the diagnosis of synovial sarcoma. More recently, however, the monophasic synovial sarcoma, consisting solely of spindle cells, has gained more acceptance as a distinct entity, because positive identification can he documented with the use of immunohistochemical tumor markers. The occurrence of a monophasic variety of synovial sarcoma, either spindle cell or epithelial, in the head and neck is extremely rare, there have heen only four cases reported in the literature,3,4 with three representing metastatic lesions (Table 1). This report presents two cases of primary monophasic spindle cell synovial sarcoma of the head and neck.
CASE l*
A 28-year-oldwhite man presented with a Cmonth history
of right submandibular swelling. He had been treated by a general dentist with incision and drainage and oral antibiotics for a presumed odontogenic infection, without resolution of the mass. The patient complained of slight tenderness of the right neck mass, trismus, and decreased tongue mobility, but denied dyspnea or dysphagia. On physical examination, an 8 X g-cm firm, nonmobile, slightly tender, right anterior cervical neck mass was present. There was no lymphadenopathy. The uvula was deviated to the left, with right palatal draping. A computed tomographic (CT) scan was interpreted as a right submandibular abscess with central necrosis (Fig 1). An incisional biopsy performed through a previous incision and drainage site revealed a poorly differentiated malignant tumor with epithelial features. A metastatic work-up, i’ncluding panendoscopy, bone scan, liver function tests, and head and chest CT scans, was negative. Microscopic examination of the tumor showed a malignant lesion with areas of necrosis. The tumor was coqposed of small cells with round to oval nuclei and occasional nucleoli. The cells were arranged in nests and clusters, which suggested epithelial differentiation, although glandular or cleft-like spaces were not evident. Immunohistochemical studies showed rare keratin-positive cells and small groups of epithelial membrane antigen (EMA)-positive cells. Additional immunohistochemical staining for S- 100, lymphocyte common antigen, calcitonin, and thyroglobulin was negative, making the diagnosis of lymphoma or metastatic thyroid carcinoma unlikely. Differential diagnosis at this point consisted of nasopharyngeal carcinoma, synovial sarcoma of the parapharyngeal region, fibrosarcoma, hemangiopericytoma, and leiomyosarcoma. Subsequently, the patient underwent a second biopsy of the right floor of mouth that showed small oval-to-short spindle cells with uniform nuclei, inconspicuous nucleoli, scant cytoplasm, and rare mitoses. The cells were arranged around dilated venous channels in a hemangiopericytoma-like pattern. No gland formation was seen; however, immunohistochemical stains for monoclonal cytokeratin and EMA were again focally positive within the tumor cells, consistent with a diagnosis of monophasic spindle cell synovial sarcoma. The treatment plan for this patient included surgical resection and postoperative radiation and chemotherapy. The
Received from the University of Pennsylvania School of Dental Medicine, Philadelphia, PA. $ Chief Resident, Department of Oral and Maxillofacial Surgery. t Chairman, Department of Oral and Maxillofacial Surgery; Di-
rector, Postgraduate Program. $ Assistant Professor,Department of Pathology. Address correspondence and reprint requests to Dr Quinn: Department of Oral and Maxillofacial Surgery, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104. 0 1994 American
Association
of Oral and Maxillofacial
Surgeons
* A more detailed description of the clinical features of this case has been presented in Torsigiieri, Hendrix, and Quinn.*”
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310
MONOPHASIC SPINDLE CELL SYNOVIAL SARCOMA
Table 1. Literature Reports of Synovial Sarcoma of the Head and Neck Reference White et al, I 9926 Carillo et al, 1992’ Karr et al, 1991’ Ferlito and Caruso, 19918 Ordonez et al, 19904
Head and Neck Site
Histopathologic Pattern
Temporomandibular joint Tongue Metastatic to mandible Larynx
Biphasic Monophasic Biphasic
39 Cases (4 head and neck) Nasopharynx Pterygomaxillary space
3 Monophasicf 1 biphasic Biphasic Biphasic
Verma et al, 19909 Maxymiw and Wood, 1990’0 DeAraujo and Buccal mucosa Monteiro, 1989” Bridge et al, 1988’ Tongue Moore and Berke, Head and neck region 1987” Shmookler et al, Orofacial region 198213 (11 cases) Delbalso et al, 198214 Temporomandibular joint Mitcherling et al, Neck 1976’3 Guzman-Patraca et al, Tongue 1975’6 Moussavi and Ghodsi, Tongue 1974’7 Novotny and Fort, Tongue 1971’8 Mir-Ahedy, 1962” Tongue
Biphasic
Biphasic Biphasic Biphasic
Unspecified Biphasic
patient underwent tracheotomy, right radical neck dissection, and right hemimandibulectomy, hemiglossectomy, and partial pharyngectomy, with immediate reconstruction using a right pectoralis major myocutaneous flap and titanium reconstruction plate. External beam radiation was begun 6 weeks postoperatively for a total of 68.4Gy to the right floor of mouth and neck regions. This was followed by six courses of doxorubicin (adriamycin). At 24 months after surgery, the patient developed an abnormality on chest radiograph that proved to be a metastasis, for which he underwent a left upper lobectomy. Approximately 1 year postthoracotomy, he developed spinal stenosis due to vertebral metastases, which was treated with surgery and radiation therapy to a total of 50 Gy to the lower thoracic spine. The patient’s condition continued to deteriorate and he succumbed to his illness 3 yearsand 8 months following the onset of symptoms.
opening was 25 mm without deviation. A panoramic radiograph revealed diffuse bony changes on the distal slope of the left coronoid process. Subsequently, the patient underwent an incisional biopsy of a mass of the left coronoid notch region. The initial pathology report described a spindle cell sarcoma and suggested the possibility of a well-differentiated fibrosarcoma, leiomyosarcoma, or a monophasic synovial sarcoma (Fig 2). The patient was then referred to our department where magnetic resonance imaging was performed that demonstrated a 4 X 5-cm soft tissue density in the infratemporal fossa region (Fig 3). A metastatic work-up was negative. The patient then underwent resection of the left mandibular ramus and associated tumor mass, and immediate reconstruction using a temporalis flap and titanium reconstruction plate (Synthes Maxillofacial, Paoli, PA). Microscopically the tumor was composed of a cellular proliferation of spindle cells with round-to-oval, uniform nuclei. Rarely, the cells were arranged in vaguely defined groups with slightly more cytoplasm, suggesting epithelial features. No glands were identified, however, and the mitotic rate was low, S- 100 and desmin immunohistochemistry were negative, making the diagnoses of melanoma, malignant peripheral nerve sheath tumor, or leiomyosarcoma unlikely. However, cytokeratin (AEl/AE3; Fig 4) and EMA (Fig 5) immunohistochemical stains were positive, consistent with monophasic synovial cell sarcoma. The final microscopic diagnosis was monophasic spindle cell synovial sarcoma with focal bony invasion; all bony and mucosal margins were free of tumor. The patient received postoperative radiation therapy to a total of 63 Gy, and remains asymptomatic without evidence of recurrence at 2 years. Discussion Enzinger and Weiss’ classified synovial sarcomas into four groups based on their morphologic characteristics: biphasic, monophasic fibrous (spindle cell),
CASE 2 A 35-year-old white woman was in her usual state of health until 2 years earlier when she presented to an oral surgeon complaining of left facial pain. Her past medical history was significant for a heart murmur, colitis, hypoglycemia, and asthma. Her family history was significant for breast, prostate, and cervical carcinoma. Despite removal of four impacted wisdom teeth, the pain persisted. She was then treated conservatively for a presumed diagnosis of “temporomandibular joint syndrome.” On physical examination, there was slight left preauricular edema and tenderness to palpation. Maximum interincisal
FIGURE 1. CT scan of right submandibular mass with central ne-
MILORO, QUINN, AND STEWART
311
FIGURE 2. Photomicrograph of hematoxylin-eosin-stained section of soft tissue mass showing uniform spindle cells without distinguishing features (original magnification X40).
FIGURE 4. Photomicrograph of cytokeratin (AEl/AE3) immunohistochemical stain of soft tissue mass showing focal areas of positivity (original magnification X40).
and the rare monophasic epithelial and poorly differentiated synovial sarcomas. Synovial sarcoma most commonly affects young adults (ages 15 to 40) has a slight male predilection of 1.2: 1, and usually occurs in paraarticular locations of the lower extremities, although it may be found in areas unrelated to synovial tissues. The approximate incidence of this tumor in the head and neck region is 9% of all synovial sarcomas, with only a few reports of intraoral occurrence (most commonly involving the tongue). It is postulated that these tumors in the head and neck originate from parapharyngeal connective tissues, and therefore occur
mostly in cervical, parapharyngeal, and retropharyngeal locations. Jernstrom2’ is credited with the first description of a case of synovial sarcoma in the head and neck. Since then over 30 cases have been reported (Table 1). The typical clinical presentation is a slow-growing, deep-seated, palpable mass that is associated with pain in about half the cases. Tumors of the head and neck can cause dyspnea or dysphagia. Radiographic evaluation of these lesions may reveal an underlying periosteal reaction of neighboring bone, or multiple small calcifications in about one third of the cases. Angio-
FIGURE 3. Magnetic resonance image of soft tissue mass of left infmtemporal fossa.
FIGURE 5. Photomicrograph of EMA immunohistochemical stain of soft tissue mass showing diffuse uptake of marker (original magnification X40).
312
graphic studies commonly show prominent vascularity of these tumors. Gross findings are inconsistent, depending on the size of the tumor, the duration of involvement, and the location. Although the histogenesis of synovial sarcoma is unclear, most investigators currently regard the cell of origin to be a primitive mesenchymal precursor stem cell, unrelated to synovial epithelium. Still others have suggested that the proliferative cells of this neoplasm possess the capability of differentiation along both mesenchymal and epithelial lines to produce the characteristic biphasic histologic picture of spindle-shaped cells and cleft-like spaces lined by epithelial-like cells. It should be realized that the designation of a monophasic synovial sarcoma as either epithelial or spindle cell is descriptive of the conventional light microscopic appearance of the tumor cells, yet acknowledges the potential of both of these cells to express immunohistochemical tumor markers consistent with epithelial differentiation. The monophasic spindle cell synovial sarcoma may pose a diagnostic dilemma because similar microscopic features may be encountered in fibrosarcoma, leiomyosarcoma, malignant schwannoma, and hemangiopericytoma. The ultrastructural features of monophasic synovial sarcoma, however, have been well characterized. The spindle cells of monophasic tumors bear striking similarities to those in the biphasic lesions. These cells generally exhibit a smooth surface with close desmosomal contacts between neighboring cells, and occasional intercellular spaces and elongated cytoplasmic microvilli or filopodia.22 Foci of calcification or new bone formation in the stroma occurs in up to 30% of these tumors, and vascularization can be extensive. Also, mast cells may be a prominent feature of this neoplasm, more commonly associated with the spindle cell portions than the epithelial portions of a biphasic lesion. Mitotic figures occur less commonly in monophasic spindle cell synovial sarcoma than in fibrosarcoma. Additionally, special staining procedures have been used to identify various glycoprotein secretions as well as two distinctive types of mutinous material secreted by each cell type in the biphasic synovial sarcoma; the epithelial cells secreting a periodic acidSchiff (PAS)-positive material, and the spindle cells producing a PAS-negative substance.23 While histologic and electron microscopic findings may aid in defining synovial sarcomas, recent studies have demonstrated the usefulness of immunohistochemistry as a diagnostic adjunct for differentiating the monophasic spindle cell form of synovial sarcoma from other spindle cell sarcomas. Several investigations have shown that the spindle cells of monophasic synovial sarcomas demonstrate certain epithelial markers.4y24,25 Although variability in patterns of marker expression are evident, both the epithelial and spindle cell com-
MONOPHASIC SPINDLE CELL SYNOVIAL SARCOMA
ponents of these tumors display positive reactivity for cytokeratin, a marker for epithelial tissues, and less intensely for EMA, which has been demonstrated on the luminal surface of the epithelial-lined ducts of biphasic sarcomas as well as the spindle cells of the monophasic tumor variety.25 Overall, the degree of staining is more in the epithelial than in the spindle cell regions and, since only a few spindle cells may express the antigen in a monophasic spindle cell tumor, it is necessary to examine many sections from different sites. In one study,4 reactivity for cytokeratin (AEl/ AE3) was detected in 63% of primary monophasic tumors; a smaller percentage (29%) of tumors were positive for EMA, while only one primary monophasic tumor expressed carcinoembryonic antigen. The spindle cells of 20 of 24 monophasic tumors, and every biphasic tumor, reacted for vimentin, an intermediate filament that is present in some mesenchymal tissues, and is therefore found in spindle but not epithelial cells. It should be mentioned that immunoreactivity for vimentin was not investigated in either of our cases because the microscopic differential diagnosis included synovial sarcoma as well as fibrosarcoma. Since vimentin reactivity would most likely have been positive in both of these tumors of mesenchymal origin, no additional relevant diagnostic information would have been provided. Other studies have demonstrated variable immunoreactivity patterns with other cytokeratin antibodies and various staining techniques. These data not only validate the existence of a monophasic form of synovial sarcoma, but also show that immunoreactivity in these tumors may provide important additional diagnostic information. Also, chromosomal rearrangements have been reported in synovial sarcoma patients, the most common of which is a balanced translocation between chromosomes X and 18.5 Future cytogenetic information may provide further diagnostic information regarding these tumors. The recommended treatment of synovial sarcoma consists of radical surgical excision, often including surrounding muscle groups or total amputation. This is followed by postoperative radiation therapy, with the use of chemotherapy reserved for the prevention of distant metastases. The rate of recurrence for all types of synovial sarcoma has been reported to be from 30% to 50%, and many patients exhibit multiple recurrences. Survival rates vary from 30% to 50% at 5 years, and 10% to 30% at 10 years. Some investigators have found no correlation between histologic subtype and prognosis, while others report a poorer prognosis with the monophasic variety. &all, et a12*report a 5year survival rate of 58% for the biphasic and 30% for the monophasic types, and lo-year survival rates of 30% and 1 l%, respectively. Also, they report an enhanced potential of the monophasic synovial sarcoma to metastasize and cause death. Indeed, the first patient
313
MJLORO, QUINN, AND STEWART
reported in our study died with metastatic disease to his lung and spine less than 3 years from the time of diagnosis. Metastatic lesions develop in about 50% of cases, with the most common sites being the lung, regional lymph nodes, and bone.26 Although the monophasic synovial sarcoma remains a rare entity, with few cases reported in the literature, it should be regarded as a highly aggressive tumor with a poorer prognosis than the biphasic type, which may necessitate an equally aggressive approach in management. References 1. Enzinger FM, Weiss SW: Soft Tissue Tumors. St Louis, MO, Mosby, 1988, p 659-688 2. Mackenzie DH: Synovial sarcoma. A review of 58 cases. Cancer 19:169, 1966 3. Karr RA, Best CG, Salem PA, et al: Synovial sarcoma metastatic to the mandible: Report of two cases. J Oral Maxillofac Surg 49:1341, 1991 4. Ordonez NG, Mahfouz SM, McKay B: Synovial sarcoma: An immunohistochemical and ultrastructural study. Hum Path01 21:733, 1990 5. Bridge JA, Bridge RS, Borek DA, et ah Translocation t(x; 18) in orofacial synovial sarcoma. Cancer 62:935, 1988 6. White RD. Makar J. Steckler RM: Svnovial sarcoma of the temporomandibular joint. J Oral Maxillofac Surg 50: 1227, 1992 7. Carrillo R, El-Nagger AK, Rodriguez-Pet&o JL, et al: Synovial sarcoma of the tongue: Case report and review of the literature. J Oral Maxillofac Surg 50~904, 1992 8. Ferlito A, Caruso G: Endolaryngeal synovial sarcoma: An update on diagnosis and treatment. ORL 53: 116,199 1 9. Verma A, Mehta S, Mann SBS, et ah Synovial sarcoma of the nasopharynx. Ear Nose Throat J 69:347, 1990 10. Maxymiw WG, Wood RE: Synovial sarcoma of the maxillofacial
11. 12. 13.
14. 15. 16.
17. 18. 19. 20. 2 1. 22.
23. 24. 25.
26.
region with osseous involvement: Case report. Int J Oral Maxillofac Surg 19:305, 1990 DeAraujo VC, Monteiro DCM: Oral synovial sarcoma: Report of a case. J Oral MaxiBofac Surg 47:1001, 1989 Moore DM, Berke GS: Synovial sarcoma of the head and neck. Arch Otolaryngol Head Neck Surg I 13:311, 1987 Shmookler BM, Enzinger FM, Brannon RB: Orofacial synovial sarcoma: A clinicopathologic study of 1I new cases and review of the literature. Cancer 501269, 1982 Delbalso AM, Pyatt RS, Busch RF, et al: Synovial cell sarcoma of the temporomandibular joint: Computed tomographic findinas. Arch Otolarvnaol 108:520. 1982 Mitcherhng JJ, Collins EMyTomich CE, et al: Synovial sarcoma of the neck: Report of case. J Oral Surg 34~64, 1976 Guzman-Patraca C, Torres HO, Garza RG: Synovial sarcoma of the oral cavity (foramen caecum): Report of a case and review of the literature. Prensa Med Mex 40~215, 1975 Moussavi M, Ghodsi S: Synovial sarcoma of the tongue: Report of a case. J Laryngol Otol88:795, 1974 Novotny GM, Fort TC: Synovial sarcoma of the tongue. Arch Otolaryngol 94:77, 1971 Mir-Abedy M: Considerations of the base of the tongue and its tumors. Ann Otolaryngol Chir Cervicofac 79547, 1962 Torsiglieri AJ, Hendrix RA, Quinn PS Synovial sarcoma of the jaw. Ear Nose Throat J 70:396, 1989 Jemstrom P: Synovial sarcoma of the pharynx. Report of a case. Am J Clin Path01 24957, 1954 Krall RA, Kostianovsky M, Patchefsky AS: Synovial sarcoma. A clinical, pathological, and ultrastructural study of 26 cases supporting the recognition of a monophasic variant. Am J Surg Path01 5: 137, 1981 Nakamura T, Nakata K, Hata S, et al: Histochemical characterization of mucosubstances in synovial sarcoma. Am J Surg Path01 8:429, 1984 Leader M, Pate1 J, Collins M, et al: Synovial sarcomas: True carcinosarcomas? Cancer 59:2096, 1987 Heyderman E, Steele K, Ormerod MG: A new antigen on the epithehai membrane: Its immunoperoxidase locaiimtion in normal and neoplastic tissue. J Clin Path01 32:35, 1979 Cadman NL, Some EH, Kelly PJ: Synovial sarcoma: An analysis of 134 tumors. Cancer 18:613, 1965
Oral MaxillofacSurg
52:309-313.
1994
Monophasic Spindle Cell Synovial Sarcoma of the Head and Neck: Report of Two Cases and Review of the Literature MICHAEL
MILORO, DMD, MD,9 PETER D. QUINN, DMD, MD,t AND JEFFERY C.B. STEWART, DDS, MS+
Report of Cases
Synovial sarcoma is a malignant tumor of primitive undifferentiated mesenchymal origin comprising up to 10% of all soft tissue sarcomas.’ The classic histopathologic biphasic synovial sarcoma, consisting of two distinct cell types in varying proportions and patterns, is easily recognized. The epithelial component is composed of cuboidal to columnar cells that commonly form duct-like structures, adjacent to fascicles of spindle-shaped cells with oval nuclei and indistinct cytoplasm. Controversy exists in the literature regarding the presence of a monophasic variety of synovial sarcoma, which fails to display epithelial cells and is composed exclusively of broad sheets of spindle cells. Some pathologists are hesitant to confirm the presence of synovial sarcoma when only one cell type, either spindle or epithelial, is present, because the differential diagnosis of histologically similar tumors is extensive. Mackenzie* states that histologic identification of the biphasic pattern is mandatory in the diagnosis of synovial sarcoma. More recently, however, the monophasic synovial sarcoma, consisting solely of spindle cells, has gained more acceptance as a distinct entity, because positive identification can he documented with the use of immunohistochemical tumor markers. The occurrence of a monophasic variety of synovial sarcoma, either spindle cell or epithelial, in the head and neck is extremely rare, there have heen only four cases reported in the literature,3,4 with three representing metastatic lesions (Table 1). This report presents two cases of primary monophasic spindle cell synovial sarcoma of the head and neck.
CASE l*
A 28-year-oldwhite man presented with a Cmonth history
of right submandibular swelling. He had been treated by a general dentist with incision and drainage and oral antibiotics for a presumed odontogenic infection, without resolution of the mass. The patient complained of slight tenderness of the right neck mass, trismus, and decreased tongue mobility, but denied dyspnea or dysphagia. On physical examination, an 8 X g-cm firm, nonmobile, slightly tender, right anterior cervical neck mass was present. There was no lymphadenopathy. The uvula was deviated to the left, with right palatal draping. A computed tomographic (CT) scan was interpreted as a right submandibular abscess with central necrosis (Fig 1). An incisional biopsy performed through a previous incision and drainage site revealed a poorly differentiated malignant tumor with epithelial features. A metastatic work-up, i’ncluding panendoscopy, bone scan, liver function tests, and head and chest CT scans, was negative. Microscopic examination of the tumor showed a malignant lesion with areas of necrosis. The tumor was coqposed of small cells with round to oval nuclei and occasional nucleoli. The cells were arranged in nests and clusters, which suggested epithelial differentiation, although glandular or cleft-like spaces were not evident. Immunohistochemical studies showed rare keratin-positive cells and small groups of epithelial membrane antigen (EMA)-positive cells. Additional immunohistochemical staining for S- 100, lymphocyte common antigen, calcitonin, and thyroglobulin was negative, making the diagnosis of lymphoma or metastatic thyroid carcinoma unlikely. Differential diagnosis at this point consisted of nasopharyngeal carcinoma, synovial sarcoma of the parapharyngeal region, fibrosarcoma, hemangiopericytoma, and leiomyosarcoma. Subsequently, the patient underwent a second biopsy of the right floor of mouth that showed small oval-to-short spindle cells with uniform nuclei, inconspicuous nucleoli, scant cytoplasm, and rare mitoses. The cells were arranged around dilated venous channels in a hemangiopericytoma-like pattern. No gland formation was seen; however, immunohistochemical stains for monoclonal cytokeratin and EMA were again focally positive within the tumor cells, consistent with a diagnosis of monophasic spindle cell synovial sarcoma. The treatment plan for this patient included surgical resection and postoperative radiation and chemotherapy. The
Received from the University of Pennsylvania School of Dental Medicine, Philadelphia, PA. $ Chief Resident, Department of Oral and Maxillofacial Surgery. t Chairman, Department of Oral and Maxillofacial Surgery; Di-
rector, Postgraduate Program. $ Assistant Professor,Department of Pathology. Address correspondence and reprint requests to Dr Quinn: Department of Oral and Maxillofacial Surgery, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104. 0 1994 American
Association
of Oral and Maxillofacial
Surgeons
* A more detailed description of the clinical features of this case has been presented in Torsigiieri, Hendrix, and Quinn.*”
0278-2391/94/5203-0018$3.00/O
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MONOPHASIC SPINDLE CELL SYNOVIAL SARCOMA
Table 1. Literature Reports of Synovial Sarcoma of the Head and Neck Reference White et al, I 9926 Carillo et al, 1992’ Karr et al, 1991’ Ferlito and Caruso, 19918 Ordonez et al, 19904
Head and Neck Site
Histopathologic Pattern
Temporomandibular joint Tongue Metastatic to mandible Larynx
Biphasic Monophasic Biphasic
39 Cases (4 head and neck) Nasopharynx Pterygomaxillary space
3 Monophasicf 1 biphasic Biphasic Biphasic
Verma et al, 19909 Maxymiw and Wood, 1990’0 DeAraujo and Buccal mucosa Monteiro, 1989” Bridge et al, 1988’ Tongue Moore and Berke, Head and neck region 1987” Shmookler et al, Orofacial region 198213 (11 cases) Delbalso et al, 198214 Temporomandibular joint Mitcherling et al, Neck 1976’3 Guzman-Patraca et al, Tongue 1975’6 Moussavi and Ghodsi, Tongue 1974’7 Novotny and Fort, Tongue 1971’8 Mir-Ahedy, 1962” Tongue
Biphasic
Biphasic Biphasic Biphasic
Unspecified Biphasic
patient underwent tracheotomy, right radical neck dissection, and right hemimandibulectomy, hemiglossectomy, and partial pharyngectomy, with immediate reconstruction using a right pectoralis major myocutaneous flap and titanium reconstruction plate. External beam radiation was begun 6 weeks postoperatively for a total of 68.4Gy to the right floor of mouth and neck regions. This was followed by six courses of doxorubicin (adriamycin). At 24 months after surgery, the patient developed an abnormality on chest radiograph that proved to be a metastasis, for which he underwent a left upper lobectomy. Approximately 1 year postthoracotomy, he developed spinal stenosis due to vertebral metastases, which was treated with surgery and radiation therapy to a total of 50 Gy to the lower thoracic spine. The patient’s condition continued to deteriorate and he succumbed to his illness 3 yearsand 8 months following the onset of symptoms.
opening was 25 mm without deviation. A panoramic radiograph revealed diffuse bony changes on the distal slope of the left coronoid process. Subsequently, the patient underwent an incisional biopsy of a mass of the left coronoid notch region. The initial pathology report described a spindle cell sarcoma and suggested the possibility of a well-differentiated fibrosarcoma, leiomyosarcoma, or a monophasic synovial sarcoma (Fig 2). The patient was then referred to our department where magnetic resonance imaging was performed that demonstrated a 4 X 5-cm soft tissue density in the infratemporal fossa region (Fig 3). A metastatic work-up was negative. The patient then underwent resection of the left mandibular ramus and associated tumor mass, and immediate reconstruction using a temporalis flap and titanium reconstruction plate (Synthes Maxillofacial, Paoli, PA). Microscopically the tumor was composed of a cellular proliferation of spindle cells with round-to-oval, uniform nuclei. Rarely, the cells were arranged in vaguely defined groups with slightly more cytoplasm, suggesting epithelial features. No glands were identified, however, and the mitotic rate was low, S- 100 and desmin immunohistochemistry were negative, making the diagnoses of melanoma, malignant peripheral nerve sheath tumor, or leiomyosarcoma unlikely. However, cytokeratin (AEl/AE3; Fig 4) and EMA (Fig 5) immunohistochemical stains were positive, consistent with monophasic synovial cell sarcoma. The final microscopic diagnosis was monophasic spindle cell synovial sarcoma with focal bony invasion; all bony and mucosal margins were free of tumor. The patient received postoperative radiation therapy to a total of 63 Gy, and remains asymptomatic without evidence of recurrence at 2 years. Discussion Enzinger and Weiss’ classified synovial sarcomas into four groups based on their morphologic characteristics: biphasic, monophasic fibrous (spindle cell),
CASE 2 A 35-year-old white woman was in her usual state of health until 2 years earlier when she presented to an oral surgeon complaining of left facial pain. Her past medical history was significant for a heart murmur, colitis, hypoglycemia, and asthma. Her family history was significant for breast, prostate, and cervical carcinoma. Despite removal of four impacted wisdom teeth, the pain persisted. She was then treated conservatively for a presumed diagnosis of “temporomandibular joint syndrome.” On physical examination, there was slight left preauricular edema and tenderness to palpation. Maximum interincisal
FIGURE 1. CT scan of right submandibular mass with central ne-
MILORO, QUINN, AND STEWART
311
FIGURE 2. Photomicrograph of hematoxylin-eosin-stained section of soft tissue mass showing uniform spindle cells without distinguishing features (original magnification X40).
FIGURE 4. Photomicrograph of cytokeratin (AEl/AE3) immunohistochemical stain of soft tissue mass showing focal areas of positivity (original magnification X40).
and the rare monophasic epithelial and poorly differentiated synovial sarcomas. Synovial sarcoma most commonly affects young adults (ages 15 to 40) has a slight male predilection of 1.2: 1, and usually occurs in paraarticular locations of the lower extremities, although it may be found in areas unrelated to synovial tissues. The approximate incidence of this tumor in the head and neck region is 9% of all synovial sarcomas, with only a few reports of intraoral occurrence (most commonly involving the tongue). It is postulated that these tumors in the head and neck originate from parapharyngeal connective tissues, and therefore occur
mostly in cervical, parapharyngeal, and retropharyngeal locations. Jernstrom2’ is credited with the first description of a case of synovial sarcoma in the head and neck. Since then over 30 cases have been reported (Table 1). The typical clinical presentation is a slow-growing, deep-seated, palpable mass that is associated with pain in about half the cases. Tumors of the head and neck can cause dyspnea or dysphagia. Radiographic evaluation of these lesions may reveal an underlying periosteal reaction of neighboring bone, or multiple small calcifications in about one third of the cases. Angio-
FIGURE 3. Magnetic resonance image of soft tissue mass of left infmtemporal fossa.
FIGURE 5. Photomicrograph of EMA immunohistochemical stain of soft tissue mass showing diffuse uptake of marker (original magnification X40).
312
graphic studies commonly show prominent vascularity of these tumors. Gross findings are inconsistent, depending on the size of the tumor, the duration of involvement, and the location. Although the histogenesis of synovial sarcoma is unclear, most investigators currently regard the cell of origin to be a primitive mesenchymal precursor stem cell, unrelated to synovial epithelium. Still others have suggested that the proliferative cells of this neoplasm possess the capability of differentiation along both mesenchymal and epithelial lines to produce the characteristic biphasic histologic picture of spindle-shaped cells and cleft-like spaces lined by epithelial-like cells. It should be realized that the designation of a monophasic synovial sarcoma as either epithelial or spindle cell is descriptive of the conventional light microscopic appearance of the tumor cells, yet acknowledges the potential of both of these cells to express immunohistochemical tumor markers consistent with epithelial differentiation. The monophasic spindle cell synovial sarcoma may pose a diagnostic dilemma because similar microscopic features may be encountered in fibrosarcoma, leiomyosarcoma, malignant schwannoma, and hemangiopericytoma. The ultrastructural features of monophasic synovial sarcoma, however, have been well characterized. The spindle cells of monophasic tumors bear striking similarities to those in the biphasic lesions. These cells generally exhibit a smooth surface with close desmosomal contacts between neighboring cells, and occasional intercellular spaces and elongated cytoplasmic microvilli or filopodia.22 Foci of calcification or new bone formation in the stroma occurs in up to 30% of these tumors, and vascularization can be extensive. Also, mast cells may be a prominent feature of this neoplasm, more commonly associated with the spindle cell portions than the epithelial portions of a biphasic lesion. Mitotic figures occur less commonly in monophasic spindle cell synovial sarcoma than in fibrosarcoma. Additionally, special staining procedures have been used to identify various glycoprotein secretions as well as two distinctive types of mutinous material secreted by each cell type in the biphasic synovial sarcoma; the epithelial cells secreting a periodic acidSchiff (PAS)-positive material, and the spindle cells producing a PAS-negative substance.23 While histologic and electron microscopic findings may aid in defining synovial sarcomas, recent studies have demonstrated the usefulness of immunohistochemistry as a diagnostic adjunct for differentiating the monophasic spindle cell form of synovial sarcoma from other spindle cell sarcomas. Several investigations have shown that the spindle cells of monophasic synovial sarcomas demonstrate certain epithelial markers.4y24,25 Although variability in patterns of marker expression are evident, both the epithelial and spindle cell com-
MONOPHASIC SPINDLE CELL SYNOVIAL SARCOMA
ponents of these tumors display positive reactivity for cytokeratin, a marker for epithelial tissues, and less intensely for EMA, which has been demonstrated on the luminal surface of the epithelial-lined ducts of biphasic sarcomas as well as the spindle cells of the monophasic tumor variety.25 Overall, the degree of staining is more in the epithelial than in the spindle cell regions and, since only a few spindle cells may express the antigen in a monophasic spindle cell tumor, it is necessary to examine many sections from different sites. In one study,4 reactivity for cytokeratin (AEl/ AE3) was detected in 63% of primary monophasic tumors; a smaller percentage (29%) of tumors were positive for EMA, while only one primary monophasic tumor expressed carcinoembryonic antigen. The spindle cells of 20 of 24 monophasic tumors, and every biphasic tumor, reacted for vimentin, an intermediate filament that is present in some mesenchymal tissues, and is therefore found in spindle but not epithelial cells. It should be mentioned that immunoreactivity for vimentin was not investigated in either of our cases because the microscopic differential diagnosis included synovial sarcoma as well as fibrosarcoma. Since vimentin reactivity would most likely have been positive in both of these tumors of mesenchymal origin, no additional relevant diagnostic information would have been provided. Other studies have demonstrated variable immunoreactivity patterns with other cytokeratin antibodies and various staining techniques. These data not only validate the existence of a monophasic form of synovial sarcoma, but also show that immunoreactivity in these tumors may provide important additional diagnostic information. Also, chromosomal rearrangements have been reported in synovial sarcoma patients, the most common of which is a balanced translocation between chromosomes X and 18.5 Future cytogenetic information may provide further diagnostic information regarding these tumors. The recommended treatment of synovial sarcoma consists of radical surgical excision, often including surrounding muscle groups or total amputation. This is followed by postoperative radiation therapy, with the use of chemotherapy reserved for the prevention of distant metastases. The rate of recurrence for all types of synovial sarcoma has been reported to be from 30% to 50%, and many patients exhibit multiple recurrences. Survival rates vary from 30% to 50% at 5 years, and 10% to 30% at 10 years. Some investigators have found no correlation between histologic subtype and prognosis, while others report a poorer prognosis with the monophasic variety. &all, et a12*report a 5year survival rate of 58% for the biphasic and 30% for the monophasic types, and lo-year survival rates of 30% and 1 l%, respectively. Also, they report an enhanced potential of the monophasic synovial sarcoma to metastasize and cause death. Indeed, the first patient
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reported in our study died with metastatic disease to his lung and spine less than 3 years from the time of diagnosis. Metastatic lesions develop in about 50% of cases, with the most common sites being the lung, regional lymph nodes, and bone.26 Although the monophasic synovial sarcoma remains a rare entity, with few cases reported in the literature, it should be regarded as a highly aggressive tumor with a poorer prognosis than the biphasic type, which may necessitate an equally aggressive approach in management. References 1. Enzinger FM, Weiss SW: Soft Tissue Tumors. St Louis, MO, Mosby, 1988, p 659-688 2. Mackenzie DH: Synovial sarcoma. A review of 58 cases. Cancer 19:169, 1966 3. Karr RA, Best CG, Salem PA, et al: Synovial sarcoma metastatic to the mandible: Report of two cases. J Oral Maxillofac Surg 49:1341, 1991 4. Ordonez NG, Mahfouz SM, McKay B: Synovial sarcoma: An immunohistochemical and ultrastructural study. Hum Path01 21:733, 1990 5. Bridge JA, Bridge RS, Borek DA, et ah Translocation t(x; 18) in orofacial synovial sarcoma. Cancer 62:935, 1988 6. White RD. Makar J. Steckler RM: Svnovial sarcoma of the temporomandibular joint. J Oral Maxillofac Surg 50: 1227, 1992 7. Carrillo R, El-Nagger AK, Rodriguez-Pet&o JL, et al: Synovial sarcoma of the tongue: Case report and review of the literature. J Oral Maxillofac Surg 50~904, 1992 8. Ferlito A, Caruso G: Endolaryngeal synovial sarcoma: An update on diagnosis and treatment. ORL 53: 116,199 1 9. Verma A, Mehta S, Mann SBS, et ah Synovial sarcoma of the nasopharynx. Ear Nose Throat J 69:347, 1990 10. Maxymiw WG, Wood RE: Synovial sarcoma of the maxillofacial
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