Fine‐needle aspiration in desmoplastic small round cell tumor: A report of 10 new tumors in 8 patients with clinicopathological and molecular correlations with review of the literature

Abstract

BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare round cell sarcoma entity characterized by a specific t(11;22)(p13;q12) translocation, usually intra-abdominal localization and an aggressive clinical outcome. To date, only 35 DSRCT cases diagnosed by fine-needle aspiration have been described. METHODS: This study reports the cytological diagnosis of DSRCT. Ten tumors from 8 patients were sampled for diagnosis and analyzed to search the characteristic translocation using fluorescence in situ hybridization or reverse transcription polymerase chain reaction methods.RESULTS: Smears were always hypercellular and consisted of nonspecific round cell sarcoma. Nuclei were polymorphic round, kidney-, or heart-shaped. Nuclear molding was usually present. Paranuclear cytoplasmic densities were obvious and noted in 7 cases. Cytonuclear atypia, mitotic figures, numerous crushed nuclei, and apoptosis were frequently seen.Purple-stained stroma was present in 8 cases (ranging from few connective tissue fragments to large hyalinized deposits).

Cytological findings of monophasic synovial sarcoma presenting as a lung mass: report of a case and review of the literature

“…Such cases could show marked cytological atypia and small cell features accompanied with high mitotic activity. These features could simulate certain small round blue cell tumors, such as desmoplastic small round cell tumor, peripheral neuroectodermal tumors, and Ewing's sarcoma . Recognization of areas that are morphologically conventional synovial sarcomas such as monotonous, relatively bland spindle cell population arranged in a fascicular pattern is important.…”

Application of ancillary studies in soft tissue cytology using a pattern‐based approach

“…Desmoplastic small round cell tumor (DSRCT) typically presents as a large intra‐abdominal mass in male teenagers or young adults. Smears have distinctive features of irregularly shaped clusters of round cells that show nuclear molding at the fragment edges; desmoplastic stroma may be present . DSRCT has the distinct immunophenotype of positivity for keratin, EMA, NSE, and desmin.…”

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

“…Most affected patients are males 15 to 35 years old. DSRCTs have an aggressive biological behavior with an extremely poor prognosis …”

“…Cytonuclear atypia, mitotic figures, and apoptotic bodies are frequently seen as well as numerous crushed nuclei. The stroma consists of purple‐stained fragments (May‐Grünwald‐Giemsa stain) . DSRCTs have a unique cytogenetic abnormality, t(11;22)(p13;q12.2), so they constitute a distinct nosologic and clinicopathologic entity .…”

“…Cells occur singly and in clumps against a background of basophilic extracellular matrix . So far, EMCS has been included with cartilaginous tumors, although the demonstration of t(11;22)(q24;q12) has been documented, and this raises the hypothesis of a close relation with ES tumors . Moreover, t(8;8)(q21.1;q13.3), resulting in a HEY1/NCOA2 fusion product, has been described, and this may help with the differential diagnosis with other small round cell sarcomas.…”