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Recurrent partial trisomy 1q22-q44 in clonal intraepithelial lymphocytes in refractory celiac sprue
Virginie Verkarre1, Serge-Pierrick Romana, Christophe Cellier
1INSERM EMI-0212, Faculté Necker-Université René Descartes-Paris V, France.
Insights
Refractory celiac sprue, a precursor to T-cell lymphoma, shows a strong association with partial trisomy 1q. This chromosomal gain may be an early event in celiac disease lymphomagenesis.
Area of Science:
- Gastroenterology
- Oncology
- Cytogenetics
Background:
- Refractory celiac sprue (RCS) is a low-grade intraepithelial lymphoma.
- RCS involves clonal expansion of intraepithelial lymphocytes lacking T-cell receptor complexes.
- RCS may represent an intermediate stage between celiac disease and T-cell lymphoma.
Purpose of the Study:
- To investigate the cytogenetic alterations in refractory celiac sprue.
- To identify potential mechanisms of lymphomagenesis in celiac disease.
Main Methods:
- Karyotyping of 7 cell lines from RCS patients.
- Analysis of 14 control T-cell lines from celiac disease patients.
- Cytogenetic analysis of bone marrow and peripheral blood lymphocytes from one RCS patient.
Main Results:
- A recurrent structural chromosomal aberration, partial trisomy of chromosome 1q, was identified in 6 of 7 RCS cell lines.
- This aberration was absent in all control T-cell lines.
- Partial trisomy 1q was confirmed in freshly isolated cells from one patient.
Conclusions:
- Refractory celiac sprue is strongly associated with partial trisomy 1q.
- Gain of chromosome 1q may be an early event in the development of T-cell lymphoma in celiac disease patients.
- This finding offers insights into the molecular mechanisms of lymphoid transformation.
Background & Aims:
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.
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