—  SPECIALTY CONFERENCE  —

Cytopathology

Case 1 - Primary Pericardial Synovial Sarcoma

Martha B. Pitman, Massachusetts General Hospital, Boston, MA





Click on slide thumbnail images for an enlarged view.

If you have any difficulties viewing these slides, email the webmaster.



Click here to download handout in 1-up pdf format for the current section

Click here to download handout in 6-up pdf format for the current section



Clinical History
40 year old Asian male with chronic cough and shortness of breath is found to have a large anterior mediastinal mass.


Case 1 - Figure 1

Case 1 - Figure 2

Case 1 - Figure 3

Case 1 - Figure 4

Case 1 - Figure 5

Case 1 - Figure 6

Case 1 - Figure 7

Case 1 - Figure 8

Diagnosis:
Primary Pericardial Synovial Sarcoma

Discussion:
Initial FNA was scant and only direct smears were made. The relatively bland spindle cell population was interpreted as probably representing a spindle cell thymoma, but it was recommended to obtain additional tissue so that definitive ancillary tests could be performed. Detailed imaging studies identified a large, centrally necrotic mass with a connection to the pericardium. A repeat biopsy procedure obtained a core biopsy in addition to smears which showed a predominantly spindle cell tumor with only focal epithelioid areas. Ancillary testing included immunohistochemical stains which showed the tumor cells to be CD99 positive, focally positive for EMA and keratin, and negative for S100. smooth muscle actin, desmin, and calretinin. The diagnosis was clinched with FISH analysis that demonstrated the diagnostic SYT-SSX break-apart signal corresponding to the t(X;18) translocation. The patient was surgically debulked with positive margins of a 17.5 cm synovial sarcoma that involved the pericardium and left ventricle, filled the anterior mediastinum and invaded the fatty thymus. The patient is alive 4 months post-op and receiving chemotherapy.

The initial cytology diagnosis of a spindle cell thymoma was reasonable as tumors of the anterior mediastinum usually fall into one of four groups: 1) thyroid tumors, 2) lymphoma, 3) teratoma and other germ cell tumors and 4) thymoma. Given that the smears were composed of a pure population of spindle cells, and no tissue was available for ancillary tests, a generic diagnosis of spindle cell lesion favoring thymoma was the best answer. Most importantly, however, it was made clear that a specific diagnosis was not made and that additional tissue needed to be obtained to make a definitive diagnosis. For patient management, it was important to confirm the diagnosis prior to surgery because some tumors, such as lymphoma, are non-surgical diseases, and others may require pre-operative chemoradiation.

Primary cardiac tumors are rare and most are benign mesenchymal tumors, most of which are myxomas. Primary cardiac sarcomas are extremely rare, but in fact, represent the second most common type of cardiac neoplasm. Only a few hundred cases of primary cardiac sarcoma have been reported in the world literature. Angiosarcoma is the more common sarcoma encountered, but synovial sarcoma has been reported arising from the atrium, ventricle and pericardium. Other sarcomas reported include myxofibrosarcoma, leiomyosarcoma, rhabdosarcoma and liposarcoma, among others.

The mean age for presentation of a cardiac sarcoma is between 30-50 years but they can occur at any age. The clinical presentation is directly dependent on the size of the tumor, but patients usually present with dyspnea as the patient presented here. Complete excision is difficult and adjuvant chemotherapy and radiation therapy are often used. If localized to the heart, orthotopic heart transplant has been shown to provide long-term survival. Prognosis overall, however, remains poor with a median survival of 6 months.

FNA of these lesions can be helpful but most lesions require ancillary testing for a specific diagnosis.

Bibliography
  1. Assaad MW, Pantanowtiz L, Otis CN. Diagnostic accuracy of image-guided percutaneous fine needle aspiration biopsy of the mediastinum. Diagn Cytopathol. 2007 Nov;35(11):705-9.

  2. Benassi F, Maiorana A, Melandri F, Stefanelli G. A case of primary cardiac angiosarcoma: extensive right atrial wall reconstruction with autologous pericardium. J Card Surg. 2010 May;25(3):282-4. Epub 2009 Oct 12.

  3. Bhattacharya P, Singh P, Bahal A, Gulati D, Tevatia MS, Mehta A, Muttagikar MP. Angiosarcoma of pericardium: a report of two cases. Indian J Pathol Microbiol. 2007 Oct;50(4):777-9.

  4. Grebenc ML, Rosado de Christenson ML, Burke AP, Green CE, Galvin JR. Primary cardiac and pericardial neoplasms: radiologic-pathologic correlation. Radiographics. 2000 Jul-Aug;20(4):1073-103; quiz 1110-1, 1112.

  5. Hing SN, Marshall L, Al-Saadi R, Hargrave D. Primary pericardial synovial sarcoma confirmed by molecular genetic studies: a case report. J Pediatr Hematol Oncol. 2007 Jul;29(7):492-5.

  6. Katakura H, Fukuse T, Shiraishi I, Hayatsu E, Nishijo K, Toguchida J, Nakashima Y, Wada H. Mediastinal synovial sarcoma. Thorac Cardiovasc Surg. 2009 Apr;57(3):183-5.

  7. Luk A, Ahn E, Vaideeswar P, Butany JW. Pericardial tumors. Semin Diagn Pathol. 2008 Feb;25(1):47-53.

  8. Mayer F, Aebert H, Rudert M, Königsrainer A, Horger M, Kanz L, Bamberg M, Ziemer G, Hartmann JT. Primary malignant sarcomas of the heart and great vessels in adult patients--a single-center experience. Oncologist. 2007 Sep;12(9):1134-42.

  9. Wang JG. Re: Primary cardiac synovial sarcoma. Interact Cardiovasc Thorac Surg. 2010 Oct;11(4):492.

  10. Moorjani N , Peebles C , Gallagher P , Tsang G . Pericardial synovial sarcoma. J Card Surg. 2009 May-Jun;24(3):349-51.

  11. Papi M, Genestreti G, Tassinari D, Lorenzini P, Serra S, Ricci M, Pasquini E, Nicolini M, Pasini G, Tamburini E, Fattori PP, Ravaioli A. Malignant pericardial mesothelioma. Report of two cases, review of the literature and differential diagnosis. Tumori. 2005 May-Jun;91(3):276-9.

  12. Powers CN, Silverman JF, Geisinger KR, Frable WJ. Fine-needle aspiration biopsy of the mediastinum. A multi-institutional analysis. Am J Clin Pathol. 1996 Feb:105(2):168-73.

  13. Timóteo AT , Branco LM , Bravio I , Pinto E , Timoteo T , Matos P , Ferreira RC . Primary angiosarcoma of the pericardium: case report and review of the literature. Kardiol Pol;68(7):802-5.

  14. Zhang PJ , Brooks JS , Goldblum JR , Yoder B , Seethala R , Pawel B , Gorman JH , Gorman RC , Huang JH , Acker M , Narula N . Primary cardiac sarcomas: a clinicopathologic analysis of a series with follow-up information in 17 patients and emphasis on long-term survival. Hum Pathol. 2008 Sep;39(9):1385-95.