Authors: Antonella Teramo, Andrea Binatti, Elena Ciabatti, Gianluca Schiavoni, Giulia Tarrini, Gregorio Barilà, Giulia Calabretto, Cristina Vicenzetto, Vanessa Rebecca Gasparini, Monica Facco, Iacopo Petrini, Roberto Grossi, Nadia Pisanti, Stefania Bortoluzzi, Brunangelo Falini, Enrico Tiacci, Sara Galimberti, Gianpietro Semenzato, Renato Zambello
Published: 2022-06-08
DOI: 10.1038/s41467-022-31015-x
Source: Full article
AbstractTγδ 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.