Synovial sarcoma: Diagnosis on fine‐needle aspiration by morphology and molecular analysis

Abstract

BACKGROUND: Synovial sarcoma (SS) is characterized by the t(X; 18) (p11.2; q11.2) translocation resulting in the SYT-SSX fusion transcript, detectable by reverse transcriptase polymerase chain reaction (RT-PCR).

Metastatic Monophasic Synovial Sarcoma: A challenging Diagnosis on Fine Needle Aspiration with Broad Differential Diagnosis

“…Synovial sarcomas (SS) are rare soft tissue sarcomas that usually arise near large extremity joints, especially knee joint [4]. SS may pose difficult diagnostic challenges on cytology when encountered as a monophasic variant.…”

“…SS presents most usually as a slow-growing deep seated mass, and in half of the cases they are painful [3]. SS could arise from any anatomic site, however, most commonly arise near large extremity joints, especially knee joint [4]. SS have three main histologic patterns: Biphasic synovial sarcoma (BSS); Monophasic synovial sarcoma (MSS); and poorly differentiated synovial sarcoma (PSS) [5].…”

Monophasic parapharyngeal synovial sarcoma diagnosed by cytology, immunocytochemistry, and molecular pathology: Case report and review of the literature

“…A study by Sun et al21 showed that the efficiency of FISH is comparable to or even higher than that of RT‐PCR for SYT‐SSX detection. In a recent retrospective and prospective study, Srinivasan et al evaluated the applicability of RT‐PCR looking for the SYT‐SSX transcript on FNAs 22…”

Value of combined cytology and molecular information in the diagnosis of soft tissue tumors

“…Because SMARCB1 , located on 22q12, is considered to be a tumor‐suppressor gene, its quasi‐systematically biallelic inactivation, detected at the molecular level, is closely linked to this protein extinction. Aberrations of chromosomes 22 have been reported, and this suggests the presence of a muted SMARCB1 / INI1 suppressor gene at this locus …”

“…Aberrations of chromosomes 22 have been reported, and this suggests the presence of a muted SMARCB1/ INI1 suppressor gene at this locus. 42,48 ASPS occurs in adolescents and young adults with a predilection for females, and the more common sites of involvement are muscles and soft tissues of the extremities. 49,50 Cells in ASPS display abundant, clear to finely vacuolated cytoplasm, often with disrupted margins and flowing of the cytoplasmic material, prominent nucleoli, and scattered bare nuclei.…”