A single-tube, EuroClonality-inspired, TRG clonality multiplex PCR aids management of patients with enteropathic diseases, including from formaldehyde-fixed, paraffin-embedded tissues

Publication date: Available online 28 September 2018Source: The Journal of Molecular DiagnosticsAuthor(s): Coralie Derrieux, Amélie Trinquand, Julie Bruneau, Virginie Verkarre, Ludovic Lhermitte, Marion Alcantara, Patrick Villarese, Bertrand Meresse, David Sibon, Olivier Hermine, Nicole Brousse, Thierry Molina, Christophe Cellier, Nadine Cerf-Bensussan, Georgia Malamut, Elizabeth MacintyreAbstractCeliac disease is a chronic inflammation of the small intestine with villous atrophy that can become refractory to a gluten-free diet. Two categories of refractory celiac disease (I and II) can be distinguished by the phenotype of intra-epithelial lymphocytes and the status of TRG genes. Their distinction is important because 30% to 50% of type II, but only 0% to 14% of type I, evolve to an aggressive enteropathy-associated T-cell lymphoma and therefore require intensive treatment. Currently, differential diagnosis integrates immunohistochemistry, immunophenotyping, and TRG clonality analyses but each have limitations. A single-tube multiplex TRG PCR (ECN) was prospectively compared to an “in house” 2-tube TRG PCR (N2T) in 73 samples, including 67 cryopreserved intestine tissues. Thirteen formaldehyde-fixed, paraffin-embedded (FFPE) samples were also analyzed retrospectively. The ECN PCR showed comparable efficiency to detect major clonal rearrangements in highly infiltrated tissues from T-cell lymphoproliferative disorders and type II refractory celiac disease, and to detect th...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research