title: 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). Molecular studies based on cytological aspirates were performed in 8 patients. The presence of the fusion gene EWSR1-WT 1 transcript was identified in all, which confirmed the diagnosis of DSRCT.
  
  
  CONCLUSIONS
  Smears showing poorly differentiated round cells associated with cytoplasmic densities and connective stoma, in a specific clinical context, young adult age, intra-abdominal localization, suggestive immunocytochemical profile, and a unique cytogenetic abnormality are highly specific and allow an accurate diagnosis of DSRCT.
authors.affiliation: Department of Tumor Biology, Institut Curie, Paris, France.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Klijanienko
authors.forename: Pierre
authors.initials: P
authors.lastname: Colin
authors.forename: Jérôme
authors.initials: J
authors.lastname: Couturier
authors.forename: Réal
authors.initials: R
authors.lastname: Lagacé
authors.forename: Paul
authors.initials: P
authors.lastname: Fréneaux
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Pierron
authors.forename: Marick
authors.initials: M
authors.lastname: Laé
authors.forename: Alice
authors.initials: A
authors.lastname: Klijanienko
authors.forename: Hervé
authors.initials: H
authors.lastname: Brisse
authors.forename: Daniel
authors.initials: D
authors.lastname: Orbach
authors.forename: Stamatios
authors.initials: S
authors.lastname: Theocharis
mesh_terms: D000293:Adolescent; D000328:Adult; D044963:Biopsy, Fine-Needle; D002648:Child; D058405:Desmoplastic Small Round Cell Tumor / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009362:Neoplasm Metastasis; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012196:Review Literature as Topic; D014178:Translocation, Genetic / Q000235:genetics; D055815:Young Adult
chemical_list: D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger
keywords: EWR1-WT1 gene fusion transcript; desmoplastic small round cell tumor; fine-needle aspiration; round cell sarcoma; t(11;22)(p13;q12)