Primary Renal Synovial Sarcoma Research Articles

Primary renal synovial sarcoma presenting in the first trimester of pregnancy.

The incidence of malignancy occurring in pregnancy is approximately 0.7–0.1 % [1]. Sarcomas occurring during pregnancy are even rarer, and kidney is an unusual site for a synovial sarcoma (SS). The histogenesis of this tumor is unknown and is usually characterized by the specific translocation t(X; 18) (p 11.2; q 11) resulting in fusion of SYT gene on chromosome 18 with SSX gene on chromososme X. SSs in general have an aggressive clinical course. Their occurrence during pregnancy poses a challenge in management.

Synovialosarcome rénal primitif

The primary renal synovial sarcoma is a rare tumor with a poor prognosis. It may be confused with other types of mesenchymal kidney tumors because of similarities in clinical and histological appearance. About 60 cases have been described in the literature. We report a case of a 66-year-old man presenting a primary synovial sarcoma of the right kidney with a vascular invasion of the inferior vena cava and right renal vein. The diagnosis was confirmed in molecular biology by reverse transcription polymerase chain reaction (RT-PCR) which demonstrated a unique chromosomal translocation t(X;18) with SYT-SSX2 fusion transcripts. We describe here the case with a brief review.

Primary renal synovial sarcoma: Report of a rare case

Primary renal synovial sarcoma is a relatively recently described uncommon tumor of kidney, with only 34 cases described till date. We report a case of PRSS in a 19-year-old female who presented with a lump in right lumber region, along with brief review of literature.

Primary Monophasic Synovial Sarcoma of the Kidney: A Case Report and Review of Literature

Primary synovial sarcoma (SS) of the kidney is a rare neoplasm and its presenting features are similar to other common renal tumors, making early diagnosis difficult. To date, few cases have been reported in the literature. Primary renal SSs can exist in either a monophasic or a biphasic pattern, the former being more common and tending to have a better prognosis than the biphasic variant. Herein we describe a case of primary renal SS that was diagnosed based on histopathology and immunohistochemistry after radical nephrectomy. Fusion gene product analysis was also done by FISH and RT-PCR. Patient follow-up and literature review are presented, focused on systemic therapy. We highlight that these tumors should be correctly diagnosed as clinical results and specific treatment are distinct from primary epithelial renal cell carcinoma. Adjuvant chemotherapy should be tailored for each patient in the management of disease, although its role still remains unclear.

Rapidly progressive course of primary renal synovial sarcoma: Case report

Primary kidney sarcoma, especially synovial sarcoma (SS), is a very rare neoplasm. Preoperative signs and symptoms are very similar to renal cell carcinoma, therefore, the proper diagnosis is very difficult and usually made after nephrectomy.This is a case report of primary renal SS. A 38-year-old man presented with a history of fever and hematuria, and right flank pain 3 weeks ago. Abdominal computerized tomography revealed a heterogeneous well-marginated soft tissue mass arising in the lower part of the right kidney. Right nephrectomy was performed. A cystic tumor of 120 x 85 mm in size with soft solid growth, and with the extensive areas of hemorrhage and necrosis was seen on gross examination. Histopathology revealed a neoplasm composed of solid monomorphic sheets of spindle cells. Immunohistochemistry showed tumor cells strongly positive for BCL2, CD99, CD56 and vimentin, and focally positive for epithelial membrane antigen (EMA). The histological diagnosis of primary renal SS was based on morphology and immunohistochemistry. FISH analysis and RT-PCR was carried out on formalin-fixed paraffin-embedded tissue sections. The molecular analysis demonstrated translocation of SYT gene on chromosome 18 and SSX2 gene on chromosome X. The findings were consistent with diagnosis of SS. Our case shows that histopathological diagnosis of primary kidney SS, although difficult, is possible to be made on the basis of morphological and immunohistochemical analysis. However, this diagnosis should be corroborated by molecular techniques confirming SYT-SSX translocation on chromosome 18 and chromosome X. Here we present visceral monophasic SS with aggressive clinical course and poor outcome.

The Value of Immunohistochemistry in Diagnosing Primary Renal Synovial Sarcoma: A Case Report and Literature Review

Primary synovial sarcoma of the kidney is rare and difficult to diagnose with 100% accuracy without the use of up-to-date histopathologic methods. Immunohistochemical procedures are well established and are continuously expanding and improving. Currently, these methods are successful in up to 90% of tumor identification. The remaining cases will ultimately benefit by combining immunohistochemistry with tumor-specific genetic marker identifiers, the latter of which are increasing in availability for tumor diagnosis. The principal immunohistochemical methods enlisted in establishing a diagnosis of primary renal synovial sarcoma are summarized.

Clinical and pathological features of primary renal synovial sarcoma: analysis of 64 cases from 11 years of medical literature

To describe, for the first time, the clinical characteristics of primary renal synovial sarcoma (SS) and to examine the association of histological features with the expression of immunohistochemical markers. We collated published data on all cases of primary renal SS, from its first description in 2000 to September 2011. Data on clinical and pathological characteristics were extracted and used to create a database. Disease-free survival (DFS) and overall survival (OS) rates were estimated using the Kaplan-Meier method with Rothman's 95% confidence intervals (CIs) and compared across the groups using the log-rank test. The associations between tumour extension and histological features were evaluated using the non-parametric Spearman rank test. A chi-squared test was used to assess the differences between groups. In the overall cohort, the median OS was 48 months (95% CI, 14.1-81.9). Cox analysis showed that the risk of death at diagnosis was greatly increased in patients with metastatic disease compared with those with non-metastatic disease (hazard ratio [HR]: 343.9, 95% CI, 2.8-42,000; P= 0.017). The median DFS was 33.0 months (95% CI, 16.8-49.2), and patients who develop metastatic disease have a very poor prognosis with a median survival of 6 months (95% CI, 5.1-6.9). Microscopic features were monophasic, biphasic and poorly differentiated synovial sarcoma in 76, 16 and 8% of patients, respectively. Significant differences in expression of immunohistochemical markers or genetic mutation were found between different subtypes. Despite its retrospective nature, this study shows that renal SS comprises different histological subtypes, which are characterized by specific immunohistochemical stains and by specific translocations. When diagnosed at metastatic stage, the prognosis was very poor compared with that for non-metastatic disease, even though one out of three patients with non-metastatic disease had disease relapse. Cooperative efforts and publication of cases with adequate follow-up are necessary to better define prognosis and therapeutic strategies for this rare disease.

Cystic Renal Neoplasms and Renal Neoplasms Associated With Cystic Renal Diseases in Adults

Cystic renal neoplasms in adults are a heterogeneous group of tumors with characteristic histogenesis, pathological findings, and variable biological profiles. They include disparate entities that are either biologically benign (lymphangioma, cystic nephroma, and mixed epithelial and stromal tumor) or malignant (cystic renal cell carcinoma, multilocular cystic renal cell carcinoma, and primary renal synovial sarcoma). Renal cystic diseases are characterized by cystic changes of the kidneys due to hereditary, developmental, or acquired etiology. Cystic renal diseases such as acquired cystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis are associated with the development of a wide spectrum of benign and malignant renal neoplasms. Most cystic renal tumors and cystic disease-associated renal neoplasms show characteristic cross-sectional imaging findings that permit accurate diagnosis. In addition, cross-sectional imaging is pivotal in the follow-up and surveillance of adult cystic tumors of the kidney.

Primary renal synovial sarcoma in a 13-year-old boy

Primary renal synovial sarcoma is a rare entity with fewer than 40 cases reported in the literature. Its clinical presentation and radiographic features, namely, its often complex cystic appearance, make it difficult to differentiate from other benign or malignant renal lesions. Although there are certain consistent morphological and immunohistochemical features, diagnosis ultimately depends on molecular studies. Prognosis is poor, and there currently exists no defined treatment protocol. Herein, we describe the youngest reported case of primary renal synovial sarcoma in the literature.

Diffuse Expression of PAX2 and PAX8 in the Cystic Epithelium of Mixed Epithelial Stromal Tumor, Angiomyolipoma With Epithelial Cysts, and Primary Renal Synovial Sarcoma

Over the past decade, 3 novel, typically cystic renal neoplasms have been described: angiomyolipoma with epithelial cysts (AMLEC), mixed epithelial stromal tumor (MEST), and primary renal synovial sarcoma (SS). In all 3 neoplasms, the nature of the cystic epithelium is not clear; some have postulated that the cysts represent cystically dilated, entrapped renal tubular epithelium, whereas an alternative interpretation is that the epithelium represents epithelial differentiation by the stromal component of the neoplasm. The latter is supported by the extrarenal location of the epithelium in some cases. PAX2 and PAX8 are tissue-specific transcription factors expressed primarily in the renal and Müllerian systems and also in Wolffian duct structures (such as seminal vesicle). Their expression has not been examined in these lesions. We performed PAX2 and PAX8 immunohistochemistry on representative sections of cases of AMLEC (8 cases), MEST (8 cases), and renal SS (3 cases). The relative percentage and intensity (none, weak, moderate, and strong) of nuclear labeling were evaluated in both the benign adjacent renal tubules and the lesion's epithelial cysts. In the benign kidney, distal convoluted tubules (DCTs) labeled strongly for PAX2 and PAX8, whereas proximal convoluted tubules labeled minimally. The cystic epithelium of all 8 cases of AMLEC, including 5 that protruded beyond the renal capsule into the perirenal fat, demonstrated strong diffuse labeling for both PAX2 and PAX8. We also identified a mimic of entirely extrarenal AMLEC, angiomyolipoma with endosalpingiosis. PAX2 and PAX8 diffusely and strongly labeled the epithelial component of all 8 cases of MEST, including all architectural (phyllodes-like, large cysts, small cysts, clustered microcysts) and virtually all cytologic (hobnail, flat, cuboidal, columnar, apocrine, and clear cell) epithelial variants present. The epithelial cysts of all 3 cases of primary renal SS labeled diffusely and strongly for PAX2 and PAX8. Cyst epithelial labeling intensity was similar to that of renal DCT in all cases. The diffuse labeling for PAX2/PAX8 in the epithelial cysts of AMLEC, taken together with their consistent negativity for estrogen receptor and HMB45, supports the hypothesis that this epithelium represents entrapped, cystically dilated renal tubules that commonly herniate beyond the renal capsule. The diffuse labeling of the cyst epithelium of renal SS supports the previously proposed hypothesis that this cyst epithelium represents entrapped dilated renal tubules in a monophasic spindle cell lesion and not neoplastic epithelial differentiation. The diffuse labeling for PAX2/PAX8 in MEST epithelium, coupled with its usual estrogen receptor negativity, is consistent with the hypothesis that the epithelium of MEST demonstrates renal tubular differentiation and undergoes architectural and cytologic changes as it grows along with the stromal component. Whether this complex epithelium represents entrapped or neoplastic renal tubular epithelium remains an open question.

A Case of Renal Synovial Sarcoma Treated with Adjuvant Ifosfamide and Doxorubicin

Primary renal synovial sarcomas (SS) are rare tumors of the kidney. Faria et al first described primary renal synovial sarcoma in 1999 (Mod Pathol 12:94A). In this paper we present a primary renal synovial sarcoma case and review the 41 primary renal synovial sarcoma cases reported to date. Primary renal synovial sarcomas can exist in either a monophasic or a biphasic pattern. The monophasic variant of primary renal synovial sarcoma is more common and tends to have a better prognosis than the biphasic variant. We present in this paper, a 68-year-old woman with primary renal synovial sarcoma. She presented with right flank pain and abdominal distention. Postoperative pathology of the 20 cm mass on magnetic resonance imaging showed histologic and immunochemical features of synovial sarcoma with coexisting spindle and epithelial cells. She underwent adjuvant ifosfamide and doxorubicin chemotherapy and was free of disease at 1 year after diagnosis. As a conclusion, physicians should be aware of the possibility of malignancy in cystic renal masses and that synovial sarcoma is one of the possibilities.

Primary renal synovial sarcoma

Primary synovial sarcoma (SS) of kidney is very rare and difficult to diagnose. Here, we present a case of a 21-year-old female clinically diagnosed as renal cell carcinoma. Right nephrectomy specimen showed a cystic tumor in the upper pole of kidney with areas of hemorrhage and solid growth. Histologically, it showed poorly differentiated cells with hemangiopericytoma-like vascular pattern. Morphologic and immunohistochemical features were compatible with the diagnosis of poorly differentiated SS of kidney. Primary renal SS is a recently described entity. To the best of our knowledge, approximately 34 cases have been reported till date and this is the eighth documented case of poorly differentiated variant. Most of the time, poorly differentiated SS of kidney exhibits hemangiopericytoma like histology. Reverse transcriptase-polymerase chain reaction analysis to demonstrate SYT–SSX fusion gene transcript helps to confirm the diagnosis.

Primary Renal Synovial Sarcoma

Synovial sarcomas are generally deep-seated tumors that most often occur in the proximity of large joints of adolescents and young adults. We describe two cases of primary renal synovial sarcoma that were treated successfully by radical nephrectomy. Synovial sarcoma originating from the kidney is extremely rare and the histogenesis is uncertain. Surgical resection and ifosfamide based chemotherapy are the mainstay for the management of renal synovial sarcoma. Fewer than 40 patients have been described in the English literature. Physicians should be aware of the possibility of malignancy in cystic renal masses and raise the suspicion of synovial sarcoma, especially when patients with renal masses are a young adult.

Sarcoma sinovial renal en edad temprana

We report a primary renal Synovial Sarcoma (SS) case and analyze its features. A 15 year old male presented with left abdominal mass and weight loss. CT scan images showed a 13 cm mass located in the lower pole of the left kidney. Renal biopsy recognized an undifferentiated neoplasm, the immunohistochemistry suggesting the probability of neuroectodermic primitive tumor versus SS. Chemotherapy and radical nephrectomy were carried out. Pathological study showed a big multilobulated necrotic tumor 22 x 13 x 12.5 cm. Histopathological study demonstrated a neoplasm composed by immature cells. Currently, patient has survived 1,8 years. A structured bibliographical search was performed in the Medline, Imbiomed and Scielo databases. The final immunohistochemistry studies gave the diagnosis of poorly differentiated renal SS small cell variety. The renal SS is extremely infrequent, with less than 40 cases reported, of which this case reports the earlier age. These tumors, when located in the kidney, represent a great diagnostic challenge that requires adequate clinical, radiological, surgical, and pathological correlation for appropriate diagnosis and treatment.

The application of cytogenetics and fluorescence in situ hybridization to fine‐needle aspiration in the diagnosis and subclassification of renal neoplasms

Percutaneous fine-needle aspiration (FNA) cytology is an important diagnostic test for the evaluation and management of selected renal masses. Cytogenetic analysis of cytology specimens can serve as an adjunct for precise classification because certain tumors are associated with specific chromosomal aberrations. This study summarizes our experience with the application of conventional cytogenetics and fluorescence in situ hybridization (FISH) to renal FNA specimens. All percutaneous renal FNAs performed during 2005 through 2008 were identified from the electronic pathology database. Results of cytogenetic and FISH analyses were correlated with the final diagnoses of the renal FNAs. A total of 303 renal FNAs were performed. During an onsite assessment, a portion of the cytology specimen was allocated for cytogenetic analysis in 74 cases. Karyotypic analysis or FISH was successful in 44 (59%) of these. Characteristic chromosomal abnormalities were observed in 27 cases. In 17 cases, a karyotype revealed a combination of trisomies/tetrasomies and in another 5 cases, FISH revealed trisomy 7 and 17, both of which are consistent with papillary renal cell carcinoma (RCC). Two cases showed 3p deletions consistent with clear cell RCC. Trisomy 3 was observed in 1 case of clear cell RCC. Monosomy 1 and 17 was observed in a case of papillary RCC comprised oncocytic cells. In 1 case of primary renal synovial sarcoma, FISH revealed a rearrangement at the SYT locus (18q11.2). Renal FNA specimens are amenable to analysis by cytogenetics and FISH in the diagnosis and subclassification of renal neoplasms.

Clinicopathologic analysis of 4 cases of primary renal synovial sarcoma

Primary renal synovial sarcoma is rare and might be misdiagnosed as another renal tumor. This study demonstrates the clinicopathologic and immunohistochemical features, differential diagnosis, and prognosis of such tumors. Histologic slides and clinical data were reviewed for 4 patients with primary renal synovial sarcoma and immunohistochemical staining was performed. Molecular analysis was performed on 2 cases to demonstrate the presence of the SYT-SSX gene fusion transcripts by reverse transcriptase polymerase chain reaction (RT-PCR). The patients were 2 women and 2 men aged from 32 to 48 years. The tumors were 10.0-15.0 cm in diameter, grey-white and solid, and hemorrhage or necrosis was observed. Microscopically, the tumors consisted of mitotically active, monomorphic plump spindle cells with indistinct cell borders growing in short, intersecting fascicles. Hypocellular myxoid areas and a prominent hemangiopericytomatous pattern were present in all cases. The average mitotic rate was 5-8 mitoses/10 high-power fields. Hemorrhage and tumor necrosis were easily found. Scattered small cysts lined with flat, cuboidal, or hobnailed epithelia were found in 3 cases. Tumor cells are immunoreactive for Vimentin (4/4), Bcl-2 (4/4), CD99 (4/4), and CD56 (3/4), and focally for EMA (3/4) and Cytokeratin (3/4). SYT-SSX1 gene fusion was detected in the 2 cases in which RT-PCR analysis was performed. One patient had tumor metastasis to the lung 6 months after surgery and died 5 months later. Multiple metastasis to the liver occurred in one patient and the patient died 13 months after the initial surgery. The other 2 patients had tumors recur at 8 and 15 months and died at 18 and 21 months, respectively, after the initial operation. Primary renal synovial sarcoma is rare, with poor prognosis, characterized by SYT-SSX gene fusion, and needs to be differentiated from other renal sarcomas.

Primary synovial sarcoma of the kidney: use of PET/CT in diagnosis and follow-up

Primary renal synovial sarcoma is a rarely seen renal neoplasm. An experienced uropathologist is needed to make the pathological diagnosis. A patient, operated on with a prediagnosis of renal cell carcinoma, the pathology of which was reported as synovial sarcoma, is presented in this article. 18F-fluoro-deoxyglucose positron emission tomography and computed tomography were performed preoperatively and in the postoperative follow-up to detect the primary tumor and lymph node metastases.

Primary Synovial Sarcoma of the Kidney

Primary synovial sarcoma arising from the kidney is extremely rare. We report two cases with primary renal synovial sarcoma. Both were initially diagnosed as renal cell carcinoma. The first case was a 30-year-old woman who presented with right flank soreness. Ultrasonography disclosed a multiloculated cystic tumor measuring 9 x 7 cm. She underwent hand-assisted laparoscopic radical nephrectomy; there was no recurrence during 15 months of follow-up. The second case was a 49-year-old woman who presented with a palpable mass in the left upper quadrant of the abdomen of 1 month's duration. Computed tomography showed a heterogeneously enhanced tumor measuring 13 x 11 cm at the left retroperitoneum with displacement of the pancreas and the left kidney. Hand-assisted retroperitoneoscopic radical nephrectomy was performed. She had no evidence of recurrence after 27 months of follow-up. Pathology of the two cases showed histologic and immunochemical features of synovial sarcoma with coexisting spindle and epithelial cells. Physicians should be aware of the possibility of malignancy in cystic renal masses and that synovial sarcoma is one of the possibilities.

Magnetic resonance imaging features of renal synovial sarcoma: a case report

Primary renal synovial sarcoma (SS) was first described in 2000 by Argani, with only a few subsequent cases being reported in the English literature. Herein, we describe a case of a 52-year-old woman who presented with right flank pain. Magnetic resonance imaging revealed a 6-cm mass in the lower pole of the right kidney. T1 and T2 weighted imaging revealed a heterogeneous mass with triple sign. There was post-contrast enhancement. Imaging, histology and immunostaining together made the diagnosis of SS of the kidney.

Anaplastic Sarcoma of the Kidney

We report 20 cases of a distinct, previously unrecognized renal neoplasm, anaplastic sarcoma of the kidney with polyphenotypic features. The tumors were identified by re-reviewing tumors with unusual anaplastic features from the National Wilms Tumor Study Pathology Center, the International Society of Pediatric Oncology and the United Kingdom Children's Cancer Study Group trials. Patients ranged in age from 10 months to 41 years (median age 5 y, mean age 12 y) and females predominated (1.5:1). Twelve tumors presented in the right kidney, and 5 in the left (laterality was unknown in 3 cases). The most common presentation was a renal mass. Grossly, most tumors were large, measured 4 to 21 cm (mean 12.7 cm) and weighed 115 to 1820 g (mean 835 g). Seven out of 12 tumors suitable for assessment had a distinct cystic component. The tumors involved the pelvi-calyceal system in 5 of the cases. Histologically, all tumors showed a spindle cell component which contained either multiple foci or diffuse, widespread anaplastic changes with bizarre pleomorphic cells and very atypical mitotic figures. Chondroid differentiation was seen in 16 cases, usually in the form of islands of hyaline cartilage (13 cases) or chondroid matrix (3 cases). The nodules of cartilage showed both benign and malignant features, often within the same tumor. In 2 cases small foci of osteoid were found whereas osteoclast-like giant cells were seen in 4 cases. Only 3 of the tumors exhibited a primitive blastema-like area. No neoplastic epithelial structures were identified. No nephrogenic rests were found. Limited immunohistochemical studies showed vimentin positivity in 5/5 cases, desmin was positive in 4/6 cases, MYF4 showed focal weak nuclear positivity in 1/4 cases, but MyoD1 was negative in all cases (0/5). PGP9.5 was focally, strongly positive in 4/5 cases and p53 was strongly positive in 3/6 cases. Cytokeratin, using the antibody CAM5.2, was uniformly negative within the tumor cells. Finally, CD56 was focally positive in 1/6 tumors, whereas all other markers were negative including NB84a (4/4), CD34 (5/6), CD99 (5/5), and WT1 (6/6 cases). In 4 tumors reverse transcriptase-polymerase chain reaction was performed to detect the SYT-SSX fusion transcript produced by the t(x;18), and the ETV6-NTRK3 fusion transcript using RNA extracted from archived paraffin blocks-results were negative in all 4 specimens. Tumor stage was known in 15 patients including 7 stage I, 4 stage II, 3 stage III, and 1 stage IV tumors. They were usually diagnosed as anaplastic Wilms tumors and treated accordingly. Of the 13 patients with a minimum of 2 years follow-up, 4 patients developed distant metastases and 1 had local recurrence including 1 patient with stage IV, 2 with stage III, and 2 with stage I at presentation. Three of them died and 2 were lost to follow-up. One patient with stage I tumor developed widespread metastases and died. Another stage I patient developed local recurrence after 3 months of diagnosis, but was lost to follow-up. Five stage I patients were alive and free of tumor at last follow-up. The most common sites of metastases were lung (3 cases), and liver and bones (2 cases each). These tumors showed pathologic features similar to the pleuropulmonary blastoma of childhood and undifferentiated (embryonal) sarcoma of the liver. In the differential diagnosis, anaplastic Wilms tumor, primary renal synovial sarcoma, malignant mesenchymoma, ectomesenchymoma, and mesenchymal chondrosarcomas have been considered but none of these tumors shared the same features as the 20 cases described here which represent a distinct clinicopathologic entity with morphologic features of a polyphenotypic anaplastic sarcoma of the kidney. Further molecular studies are needed to better understand its nature and more accurate classification.