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Synovial sarcoma, a primary liver tumor – A case report
ARTICLE IN PRESS
Pathology – Research and Practice 202 (2006) 385–387 www.elsevier.de/prp
TEACHING CASE
Synovial sarcoma, a primary liver tumor – A case report Padmini Holla, G.R. Hafez, Igor Slukvin, Munci Kalayoglu Department of Pathology, University of Wisconsin, 600 Highland Ave, Madison, WI 53792-7375, USA Received 13 April 2004; accepted 15 December 2005
Abstract An 18-year-old female presented with a mass involving the liver which was resected. Microscopically, it was diagnosed as monophasic synovial sarcoma. Cytogenetic study (FISH) revealed translocation t(X; 18), confirming the diagnosis. r 2006 Elsevier GmbH. All rights reserved. Keywords: Synovial sarcoma; Liver
Introduction
Pathologic findings
Synovial sarcoma is the fourth most common type of sarcoma and occurs predominantly in the limbs. It is also found in other locations, including the head and neck region and abdominal wall. However, primary synovial sarcoma has been reported in major abdominal and thoracic organs [7]. Here, we report the occurrence of synovial sarcoma as a primary liver tumor, and we believe the most likely origin is from the liver capsule.
The mass was well-demarcated, tan-pink, soft with foci of hemorrhage and necrosis. It measured 21 14 15 cm and weighed 2,150 g (Fig. 1). This mass was firmly attached to the liver and did not extend to other organs.
Case report An 18-year-old female presented with a history of fatigue, nausea, vomiting, and abdominal fullness. A CT scan and an angiogram showed a large mass extending from the left lobe of the liver. An exploratory laparotomy was performed with resection of the tumor. Corresponding author. Tel.: +1 608 263 8439; fax: +1 608 262 6337. E-mail address: [email protected] (G.R. Hafez).
0344-0338/$ - see front matter r 2006 Elsevier GmbH. All rights reserved. doi:10.1016/j.prp.2005.12.006
Microscopic description Examination of H&E-stained sections of the tumor revealed a highly cellular neoplasm composed of uniform, plump spindle cells with indistinct cytoplasm and oval dark-staining nuclei and with an average of 4 mitoses per 10hpf (Fig. 2). There was no epithelial component. It had a very prominent vasculature with numerous dilated vessels resembling hemangiopericytoma (Fig. 3). The tumor was invested by a thin capsule and was adherent to the liver parenchyma, but did not invade it (Fig. 4). Foci of spindle cells stained positively with antisera to cytokeratin (AE1/AE3) (Fig. 5), but were negative using antisera to CD99, CD34, and CD117. Cytogenetic study revealed a reciprocal translocation between the short arm of the X chromosome and the
ARTICLE IN PRESS 386
P. Holla et al. / Pathology – Research and Practice 202 (2006) 385–387
Fig. 4. Capsule between tumor and liver (H&E 40). Fig. 1. Macroscopic appearance of tumor with a very narrow rim of liver included (above the calibration scale).
Fig. 5. Tumor stained with anti-AE1–AE3 cytokeratin showing cytoplasmic staining of cells (immunoperoxidase 100). Fig. 2. Monophasic sarcomatous area (H&E 200).
long arm of chromosome 18 with breakpoints at band Xp11.2 and band 18q11.2 (Fig. 6).
Discussion
Fig. 3. Section of tumor showing hemangiopericytoma-like feature (H&E 100).
Sarcomas of the liver are distinctly uncommon and, therefore, the possibility of metastases from extrahepatic sarcomas should always be considered when spindle cell tumors of the liver are encountered. The hepatic sarcomas include angiosarcomas, epithelioid hemangioendothelioma, undifferentiated embryonal sarcoma, and rhabdomyosarcoma [3]. Fibrosarcomas, malignant fibrous histiocytoma, and leiomyosarcomas are even more unusual. Synovial sarcoma occurs mainly in young adults and teenagers, although they also occur in older adults and preteen children [2]. Most synovial sarcomas arise in the deep soft tissue of limbs especially around the knee;
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Fig. 6. Chromosomal preparation showing t(X; 18).
however, any site can be affected [2]. Histologically, synovial sarcoma may be biphasic or monophasic. Biphasic synovial sarcoma has varying proportions of epithelial and spindle cell components. Monophasic synovial sarcoma may be spindle cell or epithelial/ glandular in type. Immunohistochemically, 90% of all synovial sarcomas are cytokeratin-positive, and in monophasic synovial sarcoma, the cytokeratin immunoreactivity may be focal; 70% of synovial sarcomas are CD 99-positive, and these sarcomas are virtually always CD 34-negative [7,8]. More than 90% of synovial sarcomas have been consistently found to have a balanced translocation t(X; 18) (p11.2; q11.2) [1,5,6]. Synovial sarcoma metastasizes to the lungs and lymph nodes, and several years may elapse after detection and treatment of the primary lesion before metastasis occurs. Differential diagnosis for monophasic synovial sarcoma includes fibrosarcoma, leiomyosarcoma, and malignant peripheral nerve sheath tumors. It is possible to distinguish monophasic synovial sarcoma from fibrosarcoma based on histology, immunohistochemistry, and chromosomal analysis. One case report of fibrosarcoma with translocation t(X; 18) has been reported. However, the distinction between poorly differentiated synovial sarcoma and fibrosarcoma may be difficult and could represent a histological variant of synovial sarcoma [5]. Also, distinction from malignant peripheral nerve sheath tumors may be difficult, as both may share similar immunohistologic properties. However, translocation t(X; 18), which was initially reported in malignant peripheral nerve sheath tumors, is now considered
a specific marker for synovial sarcoma and is not seen in any other spindle cell tumors [4]. In summary, to our knowledge, this is the first reported case of synovial sarcoma occurring as a primary liver tumor.
References [1] P. Dal Cin, et al., Chromosome in the diagnosis of soft tissue tumors. I. Synovial Sarcoma, Mod. Pathol. 5 (1992) 357–362. [2] C. Fletcher, et al., Pathology and Genetics of Tumors of Soft Tissue and Bone, IARC, Lyon, 2002 (pp. 200–204). [3] R. Kempson, C. Fletcher, et al., Tumors of the Soft Tissue, Armed Forces Institute of Pathology, Washington, DC, 2001 (pp. 472–484). [4] R. MacSween, A. Burt, et al., Pathology of the Liver, Churchill Livingstone, London, 2002 (pp. 750–754). [5] C. Sreekantaiah, et al., Chromosomal aberration in soft tissue tumors: relevance to diagnosis, classification and molecular mechanisms, Am. J. Pathol. 144 (1994) 1121–1134. [6] C. Turc-Carel, P. Dal Cin, J. Limon, et al., Involvement of chromosome X in primary cytogenetic change in human neoplasia: non random translocation in synovial sarcoma, Proc. Natl. Acad. Sci. USA 84 (1987) 1981–1985. [7] M. van de Rijn, et al., Absence of SYT-SSX fusion products in soft tissue tumors other than synovial sarcoma, Am. J. Clin. Pathol. 112 (1999) 43–49. [8] S. Weiss, J. Goldblum, Enzinger and Weiss’s Soft Tissue Tumors, Mosby, St. Louis, 2001 (pp. 1483–1562).
Pathology – Research and Practice 202 (2006) 385–387 www.elsevier.de/prp
TEACHING CASE
Synovial sarcoma, a primary liver tumor – A case report Padmini Holla, G.R. Hafez, Igor Slukvin, Munci Kalayoglu Department of Pathology, University of Wisconsin, 600 Highland Ave, Madison, WI 53792-7375, USA Received 13 April 2004; accepted 15 December 2005
Abstract An 18-year-old female presented with a mass involving the liver which was resected. Microscopically, it was diagnosed as monophasic synovial sarcoma. Cytogenetic study (FISH) revealed translocation t(X; 18), confirming the diagnosis. r 2006 Elsevier GmbH. All rights reserved. Keywords: Synovial sarcoma; Liver
Introduction
Pathologic findings
Synovial sarcoma is the fourth most common type of sarcoma and occurs predominantly in the limbs. It is also found in other locations, including the head and neck region and abdominal wall. However, primary synovial sarcoma has been reported in major abdominal and thoracic organs [7]. Here, we report the occurrence of synovial sarcoma as a primary liver tumor, and we believe the most likely origin is from the liver capsule.
The mass was well-demarcated, tan-pink, soft with foci of hemorrhage and necrosis. It measured 21 14 15 cm and weighed 2,150 g (Fig. 1). This mass was firmly attached to the liver and did not extend to other organs.
Case report An 18-year-old female presented with a history of fatigue, nausea, vomiting, and abdominal fullness. A CT scan and an angiogram showed a large mass extending from the left lobe of the liver. An exploratory laparotomy was performed with resection of the tumor. Corresponding author. Tel.: +1 608 263 8439; fax: +1 608 262 6337. E-mail address: [email protected] (G.R. Hafez).
0344-0338/$ - see front matter r 2006 Elsevier GmbH. All rights reserved. doi:10.1016/j.prp.2005.12.006
Microscopic description Examination of H&E-stained sections of the tumor revealed a highly cellular neoplasm composed of uniform, plump spindle cells with indistinct cytoplasm and oval dark-staining nuclei and with an average of 4 mitoses per 10hpf (Fig. 2). There was no epithelial component. It had a very prominent vasculature with numerous dilated vessels resembling hemangiopericytoma (Fig. 3). The tumor was invested by a thin capsule and was adherent to the liver parenchyma, but did not invade it (Fig. 4). Foci of spindle cells stained positively with antisera to cytokeratin (AE1/AE3) (Fig. 5), but were negative using antisera to CD99, CD34, and CD117. Cytogenetic study revealed a reciprocal translocation between the short arm of the X chromosome and the
ARTICLE IN PRESS 386
P. Holla et al. / Pathology – Research and Practice 202 (2006) 385–387
Fig. 4. Capsule between tumor and liver (H&E 40). Fig. 1. Macroscopic appearance of tumor with a very narrow rim of liver included (above the calibration scale).
Fig. 5. Tumor stained with anti-AE1–AE3 cytokeratin showing cytoplasmic staining of cells (immunoperoxidase 100). Fig. 2. Monophasic sarcomatous area (H&E 200).
long arm of chromosome 18 with breakpoints at band Xp11.2 and band 18q11.2 (Fig. 6).
Discussion
Fig. 3. Section of tumor showing hemangiopericytoma-like feature (H&E 100).
Sarcomas of the liver are distinctly uncommon and, therefore, the possibility of metastases from extrahepatic sarcomas should always be considered when spindle cell tumors of the liver are encountered. The hepatic sarcomas include angiosarcomas, epithelioid hemangioendothelioma, undifferentiated embryonal sarcoma, and rhabdomyosarcoma [3]. Fibrosarcomas, malignant fibrous histiocytoma, and leiomyosarcomas are even more unusual. Synovial sarcoma occurs mainly in young adults and teenagers, although they also occur in older adults and preteen children [2]. Most synovial sarcomas arise in the deep soft tissue of limbs especially around the knee;
ARTICLE IN PRESS P. Holla et al. / Pathology – Research and Practice 202 (2006) 385–387
387
Fig. 6. Chromosomal preparation showing t(X; 18).
however, any site can be affected [2]. Histologically, synovial sarcoma may be biphasic or monophasic. Biphasic synovial sarcoma has varying proportions of epithelial and spindle cell components. Monophasic synovial sarcoma may be spindle cell or epithelial/ glandular in type. Immunohistochemically, 90% of all synovial sarcomas are cytokeratin-positive, and in monophasic synovial sarcoma, the cytokeratin immunoreactivity may be focal; 70% of synovial sarcomas are CD 99-positive, and these sarcomas are virtually always CD 34-negative [7,8]. More than 90% of synovial sarcomas have been consistently found to have a balanced translocation t(X; 18) (p11.2; q11.2) [1,5,6]. Synovial sarcoma metastasizes to the lungs and lymph nodes, and several years may elapse after detection and treatment of the primary lesion before metastasis occurs. Differential diagnosis for monophasic synovial sarcoma includes fibrosarcoma, leiomyosarcoma, and malignant peripheral nerve sheath tumors. It is possible to distinguish monophasic synovial sarcoma from fibrosarcoma based on histology, immunohistochemistry, and chromosomal analysis. One case report of fibrosarcoma with translocation t(X; 18) has been reported. However, the distinction between poorly differentiated synovial sarcoma and fibrosarcoma may be difficult and could represent a histological variant of synovial sarcoma [5]. Also, distinction from malignant peripheral nerve sheath tumors may be difficult, as both may share similar immunohistologic properties. However, translocation t(X; 18), which was initially reported in malignant peripheral nerve sheath tumors, is now considered
a specific marker for synovial sarcoma and is not seen in any other spindle cell tumors [4]. In summary, to our knowledge, this is the first reported case of synovial sarcoma occurring as a primary liver tumor.
References [1] P. Dal Cin, et al., Chromosome in the diagnosis of soft tissue tumors. I. Synovial Sarcoma, Mod. Pathol. 5 (1992) 357–362. [2] C. Fletcher, et al., Pathology and Genetics of Tumors of Soft Tissue and Bone, IARC, Lyon, 2002 (pp. 200–204). [3] R. Kempson, C. Fletcher, et al., Tumors of the Soft Tissue, Armed Forces Institute of Pathology, Washington, DC, 2001 (pp. 472–484). [4] R. MacSween, A. Burt, et al., Pathology of the Liver, Churchill Livingstone, London, 2002 (pp. 750–754). [5] C. Sreekantaiah, et al., Chromosomal aberration in soft tissue tumors: relevance to diagnosis, classification and molecular mechanisms, Am. J. Pathol. 144 (1994) 1121–1134. [6] C. Turc-Carel, P. Dal Cin, J. Limon, et al., Involvement of chromosome X in primary cytogenetic change in human neoplasia: non random translocation in synovial sarcoma, Proc. Natl. Acad. Sci. USA 84 (1987) 1981–1985. [7] M. van de Rijn, et al., Absence of SYT-SSX fusion products in soft tissue tumors other than synovial sarcoma, Am. J. Clin. Pathol. 112 (1999) 43–49. [8] S. Weiss, J. Goldblum, Enzinger and Weiss’s Soft Tissue Tumors, Mosby, St. Louis, 2001 (pp. 1483–1562).