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J Mol Diagn. 2019 Jan;21(1):111-122. doi: 10.1016/j.jmoldx.2018.08.006. Epub 2018 Sep 28.

A Single-Tube, EuroClonality-Inspired, TRG Clonality Multiplex PCR Aids Management of Patients with Enteropathic Diseases, including from Formaldehyde-Fixed, Paraffin-Embedded Tissues.

Author information

1
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Hematology Laboratory, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; INSERM UMR1151 and Institut Necker-Enfants Malades, Paris, France.
2
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Hematology Laboratory, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; INSERM UMR1151 and Institut Necker-Enfants Malades, Paris, France; INSERM UMR1163 Laboratory of Intestinal Immunity, Imagine Institute, Paris, France; Centre national Expert des Lymphomes Associés à la maladie Coeliaque, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
3
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Centre national Expert des Lymphomes Associés à la maladie Coeliaque, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
4
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Department of Pathology, Hôpital Européen Georges Pompidou, Assistance Publique des Hôpitaux de Paris, Paris, France.
5
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Hematology Laboratory, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; INSERM UMR1151 and Institut Necker-Enfants Malades, Paris, France; Centre national Expert des Lymphomes Associés à la maladie Coeliaque, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
6
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; INSERM UMR1163 Laboratory of Intestinal Immunity, Imagine Institute, Paris, France; INSERM UMR995, Lille Inflammation Research International Center (LIRIC), Lille, France.
7
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; INSERM UMR1151 and Institut Necker-Enfants Malades, Paris, France; Department of Clinical Hematology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
8
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Department of Clinical Hematology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; INSERM UMR1163, CNRS ERL 8254, Imagine Institute, Paris, France.
9
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
10
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Centre national Expert des Lymphomes Associés à la maladie Coeliaque, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; Department of Gastroenterology, Hôpital Européen Georges Pompidou, Assistance Publique des Hôpitaux de Paris, Paris, France.
11
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; INSERM UMR1163 Laboratory of Intestinal Immunity, Imagine Institute, Paris, France; Centre national Expert des Lymphomes Associés à la maladie Coeliaque, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
12
Hematology Laboratory, Necker-Enfants Malades Hosptial and Paris Descartes, Sorbonne Paris Cité University, Paris, France; Hematology Laboratory, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; INSERM UMR1151 and Institut Necker-Enfants Malades, Paris, France; Centre national Expert des Lymphomes Associés à la maladie Coeliaque, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France. Electronic address: elizabeth.macintyre@aphp.fr.

Abstract

Celiac 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 can be distinguished by the phenotype of intraepithelial 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 has limitations. A single-tube multiplex TRG PCR (ECN) was prospectively compared to an in-house two-tube TRG PCR (N2T) in 73 samples, including 67 cryopreserved intestine tissues. Thirteen formalin-fixed, paraffin-embedded (FFPE) samples were also analyzed retrospectively. The ECN PCR had 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 the persistence of minor clones in type II refractory celiac disease follow-up samples. The ECN PCR abolished the risk of amplification of false-positive weak clonal rearrangements in cryopreserved specimens and allowed improved detection of clonal rearrangements in DNA from FFPE samples. The ECN PCR allows robust assessment of cryopreserved and FFPE digestive tissues at diagnosis and follow-up of enteropathies with villous atrophy, thus guiding therapeutic management.

PMID:
30268943
DOI:
10.1016/j.jmoldx.2018.08.006
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