FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome

Edoardo Errichiello, Tommaso Mina, Patrizia Morbini, Marco Zecca, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review

Abstract

We traced the neoplastic history (from 5 to 11 years of age) of a child with concomitant Fanconi anemia and Li-Fraumeni syndrome. Interestingly, the patient developed a highly malignant T-cell non-Hodgkin lymphoma (NHL), which does not represent the typical tumor type in the two aforementioned syndromes, presumably due to the underlying genomic instability. By using a combination of molecular and immunohistochemical approaches, we characterized the accumulation of multiple genetic alterations in a single patient, with both germline (parentally inherited biallelic FANCA variants and a likely de novo nonsense variant in TP53) and somatic (TP53 loss of heterozygosity and 5q interstitial deletion) contributions. Our findings support the interplay of TP53 and FANC genes in DNA damage response pathways and further highlight the genetic heterogeneity of lymphomas as well as the contribution of genomic instability to lymphomagenesis.

Original languageEnglish
JournalCancer genetics
DOIs
Publication statusAccepted/In press - 2020

Keywords

  • FANCA
  • Fanconi anemia (FA)
  • Li-Fraumeni syndrome (LFS)
  • T-cell non-Hodgkin lymphoma (NHL)
  • TP53

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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