Small-cell variant of synovial sarcoma: Fine-needle aspiration with ancillary features and potential diagnostic pitfalls

Silverman, Jan F.; Landreneau, Rodney J.; Sturgis, Charles D.; Raab, Stephen S.; Fox, Karl R.; Jasnosz, Katherine M.; Dabbs, David J.

doi:10.1002/1097-0339(200008)23:2<118::aid-dc11>3.0.co;2-m

Cited by 33 publications

(30 citation statements)

References 21 publications

(34 reference statements)

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“…“Rhabdoid” features have been rarely described in SSs on histopathologic sections, but not within the established cytopathologic spectrum of a SS, to the best of our knowledge …”

Section: Introductionmentioning

confidence: 86%

Role of fine needle aspiration cytology in the diagnosis of a rare case of a poorly differentiated synovial sarcoma with “Rhabdoid” features, including treatment implications

Rekhi

Shetty

Ramadwar

et al. 2017

Diagnostic Cytopathology

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Synovial sarcoma is a high-grade, soft tissue sarcoma that is relatively chemosensitive. Its exact diagnosis is crucial, including differentiation from its closest diagnostic mimic, ie, Ewing sarcoma, in view of different treatment options, including chemotherapy regimens, for both these tumors. A 15-year-old girl presented with a recurrent soft tissue mass in her right popliteal region, which was diagnosed as Ewing sarcoma, based on positive immunoexpression of MIC2/CD99, Fli1 and negative expression of LCA and desmin. During her metastatic "work-up", a popliteal lymph node was identified, which was aspirated and examined. Fine needle aspiration cytology smears showed singly scattered and loose, cohesive clusters of cells containing round to polygonal, to short spindle-shaped nuclei with prominent nuclei, and moderate to abundant cytoplasm, including several "rhabdoid" cells. These features prompted a review of the biopsy of the recurrent tumor, and additional immunohistochemical stains, which revealed positive co-expression of pan cytokeratin (AE1/AE3), epithelial membrane antigen (EMA), along with a characteristic variable staining pattern of INI11/SMARCB1. Subsequently, by fluorescent in situ hybridization (FISH) technique, performed on the paraffin section of the recurrent tumor, 100% tumor nuclei displayed SS18 rearrangement, while none of the tumor cells displayed EWSR1 rearrangement. Diagnosis of poorly differentiated SS with "rhabdoid" features was confirmed. This constitutes as the first case, describing cytopathologic features of a poorly differentiated SS with "rhabdoid" features, initially misdiagnosed as a Ewing sarcoma, on biopsy and confirmed as SS by FISH technique. The diagnostic and treatment implications in this case are discussed herewith. Diagn. Cytopathol. 2017;45:662-667. © 2017 Wiley Periodicals, Inc.

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“…“Rhabdoid” features have been rarely described in SSs on histopathologic sections, but not within the established cytopathologic spectrum of a SS, to the best of our knowledge …”

Section: Introductionmentioning

confidence: 86%

Role of fine needle aspiration cytology in the diagnosis of a rare case of a poorly differentiated synovial sarcoma with “Rhabdoid” features, including treatment implications

Rekhi

Shetty

Ramadwar

et al. 2017

Diagnostic Cytopathology

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“…Its cytomorphological features could overlap with those of other malignant small round cell tumors. [57] Cytomorphology of the rare variants of synovial sarcoma such as the poorly differentiated, small cell, and monophasic variants has also been reported recently, wherein the importance of ancillary techniques such as immunocytochemistry and molecular analysis have been emphasised. [58] ICC was not found to be a very helpful ancillary technique; only two out of ten cases in which ICC was applied were diagnostic and eight cases were negative for both cytokeratin and the epithelial membrane antigen (EMA).…”

Section: Synovial Sarcomamentioning

confidence: 99%

Malignant small round cell tumors

Rajwanshi

Srinivas

Gautam

2009

J Cytol

131

105

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Malignant small round cell tumors are characterised by small, round, relatively undifferentiated cells. They generally include Ewing's sarcoma, peripheral neuroectodermal tumor, rhabdomyosarcoma, synovial sarcoma, non-Hodgkin's lymphoma, retinoblastoma, neuroblastoma, hepatoblastoma, and nephroblastoma or Wilms’ tumor. Other differential diagnoses of small round cell tumors include small cell osteogenic sarcoma, undifferentiated hepatoblastoma, granulocytic sarcoma, and intraabdominal desmoplastic small round cell tumor. Differential diagnosis of small round cell tumors is particularly difficult due to their undifferentiated or primitive character. Tumors that show good differentiation are generally easy to diagnose, but when a tumor is poorly differentiated, identification of the diagnostic, morphological features is difficult and therefore, no definitive diagnosis may be possible. As seen in several study reports, fine needle aspiration cytology (FNAC) has become an important modality of diagnosis for these tumors. The technique yields adequate numbers of dissociated, viable cells, making it ideally suitable for ancillary techniques. Typically, a multimodal approach is employed and the principal ancillary techniques that have been found to be useful in classification are immunohistochemistry and immunophenotyping by flow cytometry, reverse transcriptase polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and electron microscopy. However, the recent characterization of chromosomal breakpoints and the corresponding genes involved in malignant small round cell tumors means that it is possible to use molecular genetic approaches for detection.

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“…Yet, unresected or metastatic tumor, together with progressive or recurrent disease, were associated with dismal outcome [5]. Since radical resection consistently holds a major prognostic value, chemotherapy may be important to achieve cytoreduction, thus increasing the probability of a radical excision, especially when the tumor site makes it difficult [25][26][27].…”

Section: Discussionmentioning

confidence: 99%

SYNOVIAL SARCOMA OF THE NECK IN A CHILD: A Multidisciplinary Approach

Farruggia¹,

D’Angelo²,

Cascio³

et al. 2008

Pediatric Hematology and Oncology

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Synovial sarcoma (SS) is the most common nonrhabdomyosarcomatous soft tissue sarcoma in childhood, but the head-neck site accounts for less than 5% of cases. The authors report a 10-year-old boy with SYT-SSX1 positive left parapharyngeal SS, resistant to front-line VAIA chemotherapy, who obtained a good partial response by salvage regimen (I(3)VE + CEV + I(3)VE) and local radiotherapy, so a complete surgical resection could be performed. The complete remission was subsequently consolidated by ablative high-dose chemotherapy, followed by autologous stem cell reinfusion. The child remains in complete remission at 36 months after completion of treatment.

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Small-cell variant of synovial sarcoma: Fine-needle aspiration with ancillary features and potential diagnostic pitfalls

Cited by 33 publications

References 21 publications

Role of fine needle aspiration cytology in the diagnosis of a rare case of a poorly differentiated synovial sarcoma with “Rhabdoid” features, including treatment implications

Role of fine needle aspiration cytology in the diagnosis of a rare case of a poorly differentiated synovial sarcoma with “Rhabdoid” features, including treatment implications

Malignant small round cell tumors

SYNOVIAL SARCOMA OF THE NECK IN A CHILD: A Multidisciplinary Approach

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