JOURNAL OF BIOLOGICAL REGULATORS & HOMEOSTATIC AGENTS Vol. 25, no. 2, 0-0 (2011)
0393-974X (2011)
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Mature T-lymphocytes recognize antigens
through a highly specialized molecule: a
hypervariable heterodimer referred to as the T-cell
receptor (TCR). The diversity of the TCR variability
repertoire is the result of gene recombination among
a series of variable (V) region genes in combination
with diversity (D) and joining (J) region segments.
In addition, the complementary determining region
3 (CDR3) portion of the beta-chain adds additional
fine specificity to the TCR, rendering the TCR unique
for each T-cell. The majority of T-cells expresses the
alpha-beta TCR, while a minority (about 5%) of
cells expresses an alternative gamma-delta receptor
(1). In normal peripheral blood lymphocytes TCR
repertoire is usually polyclonal. However, in
malignancies such as leukemias,(2), as well as in
lymphoproliferative diseases of mature T-cells (3-
5), the TCR is a reflection of the clonality of the
malignant cells and is therefore monoclonal (6). The
ability to study TCR repertoire dates back to the last
decades of the 20
th
century, first using the Southern
blot technique and later with the more sensitive
TCR spectratyping. With these techniques it became
evident that in non-leukemic diseases, including
solid and haematological neoplasias, auto-immune
disorders, infectious diseases and allergic diseases,
T-cells responding to diverse stimuli and infiltrating
tissues of every organ may express a skewed or
EDITORIAL
SKEWED T-CELL RECEPTOR REPERTOIRE: MORE THAN A MARKER
OF MALIGNANCY, A TOOL TO DISSECT THE IMMUNOPATHOLOGY OF
INFLAMMATORY DISEASES
F. PANDOLFI
1
, R. CIANCI
1
, F. CASCIANO
1
, D. PAGLIARI
1
, T. DE PASQUALE
1
,
R. LANDOLFI
1
, G. DI SANTE
2
, J.T. KURNICK
3
and F. RIA
2
1
Department of Internal Medicine and
2
General Pathology Catholic University, Rome, Italy;
3
Harvard Medical School and the Massachusetts General Hospital, Boston, Ma. USA
Received February 2, 2010 – Accepted April 15, 2011
The highly diverse heterodimeric surface T cell receptor (TCR) gives the T lymphocyte its specificity
for MHC-bound peptides needed to initiate antigen-recognition. In normal peripheral blood, spleen and
lymph nodes, the TCR repertoire of the T lymphocytes is usually polyclonal. However, in malignancies
such as leukemias, as well as in lymphoproliferative diseases of mature T cells, the TCR is a reflection
of the clonality of the malignant cells and is therefore monoclonal. Several clinical conditions (mainly
solid tumors and autoimmune diseases) have been described where the TCR repertoire is restricted.
The ability to demonstrate clonal TCR usage provides a useful tool to dissect the immunopathology of
inflammatory diseases. In this review we discuss these findings and propose to sub-divide diseases with
restricted TCR repertoire into a group of conditions in which there is a known TCR ligand, as opposed
to diseases in which the restricted TCR repertoire is the result of impaired T-cell development. This
classification sheds light on the pathogenesis of several inflammatory diseases.
Mailing address: Prof. Francesco Ria,
Istituto di Patologia Generale,
Universita’ Cattolica, Largo F. Vito, 1 00168
Rome, Italy
Tel: ++39 0630164914
Fax: ++39 063386446
e-mail: fria@rm.unicatt.it
Key words: T-cell receptor, solid tumors melanoma, autoimmune diseases,
skewed TCR repertoire, spectratyping, rheumatoid arthritis