title: Recurrent partial trisomy 1q22-q44 in clonal intraepithelial lymphocytes in refractory celiac sprue.
abstract: OBJECTIVE
  Refractory celiac sprue, a low-grade intraepithelial lymphoma characterized by expansion of clonal intraepithelial lymphocytes with intracellular CD3 epsilon but no surface CD3-T-cell receptor complexes, can be an intermediary step between celiac disease and overt T-cell lymphoma. To gain insight into the mechanisms of lymphomagenesis in celiac disease, we have performed the first cytogenetic study in refractory celiac sprue.
  
  
  METHODS
  Karyotypes were performed on: (1) 7 cell lines derived from clonal intraepithelial lymphocytes of patients with refractory celiac sprue; (2) 14 control T-cell lines, either from 4 of 7 patients with refractory celiac sprue or from 10 patients with uncomplicated celiac disease; and (3) bone marrow and peripheral blood lymphocytes in 1 of 7 patients with refractory celiac sprue. Rearrangements were confirmed by in situ hybridization using whole-chromosome painting probes and by comparative genomic hybridization in one patient.
  
  
  RESULTS
  A recurrent structural chromosomal aberration leading to partial trisomy of the long arm of chromosome 1 was found in 6 of 7 cell lines from patients with refractory celiac sprue but in none of the control T-cell lines. In one patient with circulating abnormal intraepithelial lymphocytes, the partial trisomy 1q was confirmed on cells freshly isolated from bone marrow and blood.
  
  
  CONCLUSIONS
  Refractory celiac sprue is strongly associated with partial trisomy of the 1q region. Gain of chromosome 1q, recently found in 16% of enteropathy-type T-cell lymphoma, may be an early event in lymphomagenesis related to celiac disease and provides a key to investigating molecular mechanisms of lymphoid transformation in this disease.
authors.affiliation: INSERM EMI-0212, Faculté Necker-Université René Descartes-Paris V, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Verkarre
authors.forename: Serge-Pierrick
authors.initials: SP
authors.lastname: Romana
authors.forename: Christophe
authors.initials: C
authors.lastname: Cellier
authors.forename: Vahid
authors.initials: V
authors.lastname: Asnafi
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Mention
authors.forename: Ullah
authors.initials: U
authors.lastname: Barbe
authors.forename: Sylvie
authors.initials: S
authors.lastname: Nusbaum
authors.forename: Olivier
authors.initials: O
authors.lastname: Hermine
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Macintyre
authors.forename: Nicole
authors.initials: N
authors.lastname: Brousse
authors.forename: Nadine
authors.initials: N
authors.lastname: Cerf-Bensussan
authors.forename: Isabelle
authors.initials: I
authors.lastname: Radford-Weiss
mesh_terms: D000328:Adult; D000368:Aged; D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology; D002460:Cell Line; D002878:Chromosomes, Human, Pair 1; D002999:Clone Cells; D005260:Female; D015321:Gene Rearrangement; D019675:Genes, T-Cell Receptor gamma; D006801:Humans; D007413:Intestinal Mucosa / Q000166:cytology / Q000276:immunology; D008214:Lymphocytes / Q000166:cytology* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D012008:Recurrence; D014314:Trisomy