Small biopsies in the head and neck: Bone and soft tissue

Sharma, Aarti E; Kerr, Darcy A.

doi:10.1053/j.semdp.2023.06.003

Cited by 1 publication

(1 citation statement)

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“…42 TLE1 can narrow down the differential diagnosis; however, TLE1 promiscuity has been observed across these tumors and cannot reliably be used in this distinction. 43 Moreover, FLI1 and CD99 positivity and INI1 loss are not uncommon in primary renal synovial sarcoma creating a diagnostic dilemma. 44–46 In such scenarios, IHC for SS18-SSX supported by FISH and/or PCR assist in rendering a correct diagnosis.…”

Section: Discussionmentioning

confidence: 99%

SS18-SSX Expression in a Contemporary Cohort of Primary Renal Synovial Sarcoma: A Multi-Institutional Experience of Fourteen Patients

Challa

Mohanty²,

Jha³

et al. 2023

Int J Surg Pathol

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Primary renal synovial sarcoma is a rare aggressive mesenchymal neoplasm of the kidney that accounts for less than 1% of renal sarcomas. Herein, we describe the clinicopathologic and molecular findings of 14 renal synovial sarcoma patients in one of the largest case series to date and to our knowledge, the only renal synovial sarcoma series to use novel SS18-SSX IHC. Clinicopathologic, IHC, molecular, management, and follow-up data were reviewed and analyzed. Macroscopically, the tumors had either homogeneous, tan-white, and solid ( n = 10), variegated and solid ( n = 3), or variegated and solid-cystic ( n = 1) cut surfaces. Spindle cell ( n = 10), round cell ( n = 3), and round to epithelioid morphologies ( n = 1) were observed. SS18-SSX IHC was positive in all 14 tumors (diffuse, n = 10; multifocal, n = 2; focal, n = 2). All the tumors harbored SS18::SSX1/2 gene rearrangement. Metastases to the liver, brain, and lung ( n = 1); liver and bone ( n = 1); liver and diaphragm ( n = 1) were identified. Adjuvant chemotherapy was administered in 11/12 patients. Follow-up was available for 10 patients (time period range: 5 to 24 months). Four patients died of disease, and six patients are alive with no recurrence or metastasis. As SS18-SSX IHC showed an excellent concordance with the FISH results, this may reliably be used in the IHC panel of spindle/round cell sarcomas of the kidney and as a molecular surrogate for renal synovial sarcoma, particularly in a resource-limited setting. Also, the tumors with focal SS18-SSX expression had lower break apart signals in the FISH assay (19% and 23% in two tumors with focal SS18-SSX IHC positivity).

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