The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma

Federico Verzegnassi, Erica Valencic, Valentina Kiren, Nagua Giurici, Anna Monica Bianco, Annalisa Marcuzzi, Diego Vozzi, Alberto Tommasini, Flavio Faletra

Research output: Contribution to journalArticle

Abstract

A severe course of infectious mononucleosis should always lead up to the suspicion of a primary immunodeficiency. We describe the case of a boy with severe mononucleosis accompanied by the development of hemophagocytic lymphohistiocytosis and lymphoma. By whole exome sequencing, we identified a mutation of uncertain significance in CTPS2, a gene closely related to CTPS1, which is involved in a primary immune deficiency with susceptibility to herpesviruses. We discuss the challenge of a correct interpretation of data from whole exome sequencing, questioning whether the CTPS2 variant found in our patient is just an incidental finding or a mutation with variable penetrance.

Original languageEnglish
Pages (from-to)e323-e326
JournalJournal of Pediatric Hematology/Oncology
Volume40
Issue number5
DOIs
Publication statusPublished - Jul 1 2018

Keywords

  • CTPS2
  • Epstein Barr virus
  • hemophagocytic lymphohistiocytosis
  • lymphoma
  • whole exome sequencing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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