Targeted next-generation sequencing reveals molecular heterogeneity in non-chronic lymphocytic leukemia clonal B-cell lymphocytosis

Irene Defrancesco, Silvia Zibellini, Emanuela Boveri, Marco Frigeni, Virginia Valeria Ferretti, Ettore Rizzo, Arturo Bonometti, Francesca Capuano, Chiara Candido, Sara Rattotti, Annamaria Tenore, Cristina Picone, Elena Flospergher, Caterina Zerbi, Fabio Bergamini, Nicole Fabbri, Caterina Cristinelli, Marzia Varettoni, Marco Paulli, Luca Arcaini

Research output: Contribution to journalArticle

Abstract

Non-chronic lymphocytic leukemia (non-CLL) clonal B-cell lymphocytosis (CBL) encompasses a heterogeneous group of hematologic disorders that are still poorly understood. To shed light on their biological aspects, we retrospectively analyzed a highly selected series of 28 patients, who had a clonal B-cell population in the peripheral blood and in the bone marrow, without evidence of lymphoma. Extended targeted next-generation sequencing revealed wide molecular heterogeneity with MYD88 (14%), PDE4DIP (14%), BIRC3 (11%), CCND3 (11%), NOTCH1 (11%), and TNFAIP3 (11%) as the most mutated genes. Mutations of MYD88 were “nonclassic” in most cases. Although some genetic lesions were overlapping with indolent lymphomas, mainly splenic B-cell lymphomas of marginal zone origin and splenic diffuse red pulp small B-cell lymphoma, the genetic profile of our non-CLL CBL series seemed to suggest that various pathways could be involved in the pathogenesis of these disorders, not mirroring any specific lymphoma entity. These data better enlighten the molecular characteristics of non-CLL CBL; however, more efforts are needed in order to improve the diagnostic process, prognostication, and clinical management.

Original languageEnglish
JournalHematological Oncology
DOIs
Publication statusAccepted/In press - 2020

Keywords

  • clonal B-cell lymphocytosis
  • marginal zone lymphoma
  • next-generation sequencing

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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