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Defining TCRγδ lymphoproliferative disorders by combined immunophenotypic and molecular evaluation
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Journal Article
Defining TCRγδ lymphoproliferative disorders by combined immunophenotypic and molecular evaluation
2022
Overview
Tγδ large granular lymphocyte leukemia (Tγδ LGLL) is a rare lymphoproliferative disease, scantily described in literature. A deep-analysis, in an initial cohort of 9 Tγδ LGLL compared to 23 healthy controls, shows that Tγδ LGLL dominant clonotypes are mainly public and exhibit different V-(D)-J γ/δ usage between patients with symptomatic and indolent Tγδ neoplasm. Moreover, some clonotypes share the same rearranged sequence. Data obtained in an enlarged cohort (n = 36) indicate the importance of a combined evaluation of immunophenotype and
STAT
mutational profile for the correct management of patients with Tγδ cell expansions. In fact, we observe an association between Vδ2/Vγ9 clonality and indolent course, while Vδ2/Vγ9 negativity correlates with symptomatic disease. Moreover, the 7 patients with
STAT3
mutations have neutropenia and a CD56-/Vδ2- phenotype, and the 3 cases with
STAT5B
mutations display an asymptomatic clinical course and CD56/Vδ2 expression. All these data indicate that biological characterization is needed for Tγδ-cell neoplasm definition.
Tγδ large granular lymphocyte leukemia (Tγδ LGLL) is a rare lymphoproliferative neoplasm characterized by the expansion of T large granular lymphocytes expressing γδ TCR. Here, based on deep sequencing analysis of the clonotype repertoire, the authors show that leukemic Tγδ cells are characterized by recurrent public clonotypes that are diversified between symptomatic and asymptomatic patients.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 49
/ 49/22
/ 49/23
/ 49/31
/ Humanities and Social Sciences
/ Humans
/ Immunoproliferative diseases
/ Leukemia
/ Leukemia, Large Granular Lymphocytic - diagnosis
/ Leukemia, Large Granular Lymphocytic - genetics
/ Leukemia, Large Granular Lymphocytic - metabolism
/ Mutation
/ Patients
/ Receptors, Antigen, T-Cell, gamma-delta - genetics
/ Science
/ Tumors
