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 - 1 Jul 2018

Fingerprint

Exome
Human Herpesvirus 4
Lymphoma
Hemophagocytic Lymphohistiocytosis
Infectious Mononucleosis
Mutation
Incidental Findings
Penetrance
Herpesviridae
Genes

Keywords

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

ASJC Scopus subject areas

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

Cite this

Verzegnassi, F., Valencic, E., Kiren, V., Giurici, N., Bianco, A. M., Marcuzzi, A., ... Faletra, F. (2018). The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma. Journal of Pediatric Hematology/Oncology, 40(5), e323-e326. https://doi.org/10.1097/MPH.0000000000001004

The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma. / Verzegnassi, Federico; Valencic, Erica; Kiren, Valentina; Giurici, Nagua; Bianco, Anna Monica; Marcuzzi, Annalisa; Vozzi, Diego; Tommasini, Alberto; Faletra, Flavio.

In: Journal of Pediatric Hematology/Oncology, Vol. 40, No. 5, 01.07.2018, p. e323-e326.

Research output: Contribution to journalArticle

Verzegnassi, F, Valencic, E, Kiren, V, Giurici, N, Bianco, AM, Marcuzzi, A, Vozzi, D, Tommasini, A & Faletra, F 2018, 'The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma', Journal of Pediatric Hematology/Oncology, vol. 40, no. 5, pp. e323-e326. https://doi.org/10.1097/MPH.0000000000001004
Verzegnassi, Federico ; Valencic, Erica ; Kiren, Valentina ; Giurici, Nagua ; Bianco, Anna Monica ; Marcuzzi, Annalisa ; Vozzi, Diego ; Tommasini, Alberto ; Faletra, Flavio. / The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma. In: Journal of Pediatric Hematology/Oncology. 2018 ; Vol. 40, No. 5. pp. e323-e326.
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