Comparative genomic analysis and evolution of the T cell receptor loci in the opossum Monodelphis domestica.

Abstract Abstract 4239 Chromosomal aberrations have diagnostic, prognostic and therapeutic consequences in haematological malignancies. By combining fine-tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR) we established a fast and robust approach to precisely characterize chromosomal breakpoints. Using this approach we characterized at the molecular level novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma occurring during the deletional rearrangement of the T cell receptor delta gene (TRD). Normally, this transient rearrangement is a pivotal step in T cell differentiation towards the alpha/beta versus the gamma/delta lineage and generates the T cell receptor excision circles (TREC), which are quantitated to determine the proliferative history of T cells. We found that the rearrangement disrupted the hypothetical gene C12orf42 and brought the Achaete-scute complex homolog 1 (ASCL1) gene into proximity to the TRA enhancer, which is encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors and is overexpressed in medullary thyroid cancer and small cell lung cancer. Disclosures: No relevant conflicts of interest to declare.

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Physical mapping of T cell receptor loci (TRA@, TRB@, TRD@ and TRG@) in the opossum (Monodelphis domestica)

Cytogenetic and Genome Research ◽

10.1159/000089901 ◽

2006 ◽

Vol 112 (3-4) ◽

pp. 342K-342K ◽

Cited By ~ 8

Author(s):

J.E. Deakin ◽

Z.E. Parra ◽

J.A.M. Graves ◽

R.D. Miller

Keyword(s):

T Cell ◽

T Cell Receptor ◽

Physical Mapping ◽

Cell Receptor ◽

Monodelphis Domestica

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Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E)

Blood ◽

10.1182/blood-2017-02-768234 ◽

2017 ◽

Vol 130 (12) ◽

pp. 1430-1440 ◽

Cited By ~ 45

Author(s):

Joonhee Park ◽

Jingyi Yang ◽

Alexander T. Wenzel ◽

Akshaya Ramachandran ◽

Wung J. Lee ◽

...

Keyword(s):

T Cell ◽

T Cell Receptor ◽

Genomic Analysis ◽

Cell Receptor ◽

Receptor Signaling ◽

Gain Of Function ◽

Key Points ◽

T Cell Receptor Signaling ◽

Cell Receptor Signaling

Key Points Genomic analysis of 220 CTCLs identifies 55 genes in lymphomagenesis, including 17 genes not previously implicated in CTCL. RLTPR (p.Q575E) is a novel gain-of-function mutation that potentiates T-cell receptor signaling via selective upregulation of the NF-κB pathway.

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Genomic Analysis of the Olfactory Receptor Region of the Mouse and Human T-Cell Receptor alpha /delta Loci

Genome Research ◽

10.1101/gr.197901 ◽

2002 ◽

Vol 12 (1) ◽

pp. 81-87 ◽

Cited By ~ 19

Author(s):

R. P. Lane

Keyword(s):

T Cell ◽

T Cell Receptor ◽

Olfactory Receptor ◽

Genomic Analysis ◽

Cell Receptor ◽

Receptor Alpha ◽

Human T Cell ◽

Cell Receptor Alpha

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Comprehensive genomic analysis of the dromedary T cell receptor gamma (TRG) locus and identification of a functional TRGC5 cassette

Developmental & Comparative Immunology ◽

10.1016/j.dci.2020.103614 ◽

2020 ◽

Vol 106 ◽

pp. 103614 ◽

Cited By ~ 4

Author(s):

R. Antonacci ◽

G. Linguiti ◽

P.A. Burger ◽

V. Castelli ◽

A. Pala ◽

...

Keyword(s):

T Cell ◽

T Cell Receptor ◽

Genomic Analysis ◽

Cell Receptor ◽

Trg Locus

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Gene Rearrangement and Comparative Genomic Hybridization Studies of Classic Hodgkin Lymphoma Expressing T-Cell Antigens

Archives of Pathology & Laboratory Medicine ◽

10.5858/2006-130-1772-gracgh ◽

2006 ◽

Vol 130 (12) ◽

pp. 1772-1779 ◽

Cited By ~ 1

Author(s):

Nadine S. I. Aguilera ◽

Jian Chen ◽

Karen E. Bijwaard ◽

Alison E. Director-Myska ◽

Carol L. Barekman ◽

...

Keyword(s):

T Cell ◽

Hodgkin Lymphoma ◽

T Cell Receptor ◽

Comparative Genomic Hybridization ◽

Heavy Chain ◽

Cell Receptor ◽

Comparative Genomic ◽

Genomic Hybridization ◽

Classic Hodgkin Lymphoma ◽

T Cell Antigens

Abstract Context.—Reed-Sternberg cells in classic Hodgkin lymphoma are enigmatic and difficult to study because they are so sparse. Tissue microdissection allows for the isolation of single Reed-Sternberg cells. Isolated Reed-Sternberg cells show clonal immunoglobulin gene rearrangement indicating a B-cell origin. Rarely, Reed-Sternberg cells in classic Hodgkin lymphoma express T-cell antigens, suggesting a possible T-cell origin. Objective.—To determine whether there is a difference in genotype between classic Hodgkin lymphoma and classic Hodgkin lymphoma expressing T-cell antigens and to document T-cell clonality. Design.—We studied 4 cases of Hodgkin lymphoma with a characteristic phenotype and immunoreactivity for CD2 and CD3. Single CD30+ Reed-Sternberg cells from each case were isolated by laser capture microdissection for immunoglobulin heavy chain and T-cell receptor-γ genes by polymerase chain reaction studies. Comparative genomic hybridization was performed in all cases. Results.—Two of 4 cases showed clonal rearrangement of the T-cell receptor-γ; none showed immunoglobulin heavy chain rearrangement. Two control cases were negative for T cell receptor-γ but 1 showed immunoglobulin heavy chain rearrangement. Comparative genomic hybridization analysis revealed significant overlap in genomic alteration in Hodgkin lymphoma cases regardless of genotype or phenotype and several regions of imbalance specific to CD3+ Hodgkin lymphoma cases. All patients are alive with no evidence of disease from 10 to 44 months. Conclusions.—Our findings suggest that a T-cell phenotype classic Hodgkin lymphoma can be supported by genotypic studies and that there may be cytogenetic differences between classic Hodgkin lymphoma and Hodgkin lymphoma expressing T-cell antigens.

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