Prenatal origin of NUTM1 gene rearrangement in infant B‐cell precursor acute lymphoblastic leukaemia

Author:

Bardini Michela1ORCID,Fazio Grazia12ORCID,Abascal Lilia Corral1,Meyer Claus3ORCID,Maglia Oscar1,Sala Simona1,Palamini Sonia1,Rebellato Stefano1ORCID,Marschalek Rolf2ORCID,Rizzari Carmelo4ORCID,Biondi Andrea24ORCID,Cazzaniga Giovanni12ORCID

Affiliation:

1. Tettamanti Center, Fondazione IRCCS San Gerardo Dei Tintori Monza Italy

2. School of Medicine and Surgery, University of Milano‐Bicocca Milano Italy

3. DCAL/Institute of Pharmaceutical Biology, Goethe‐University Frankfurt/Main Germany

4. Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori Monza Italy

Abstract

SummaryRearrangement of NUTM1 gene (NUTM1r) is one of the most frequent aberrations occurring in infants (younger than 1 year at diagnosis) with B‐cell precursor Acute Lymphoblastic Leukaemia (BCP‐ALL). In this study we had the unique opportunity to analyze the umbilical cord blood (UCB) sample from one infant patient with NUTM1r BCP‐ALL. Herein we reported for the first time that NUTM1r infant ALL arise prenatally, as both the patient‐specific CUX1::NUTM1 fusion gene, as well as two IG/TR leukaemic markers were already present and detectable in the patient's UCB at birth. Our results clearly demonstrate the prenatal origin of NUTM1r infant BCP‐ALL.

Publisher

Wiley

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