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Here, we describe the immunoglobulin and T cell receptor (Ig/TCR) molecular rearrangements identified as a leukemic clone hallmark for minimal residual disease assessment in relation to TP53 mutational status in 171 Ph-negative Acute Lymphoblastic Leukemia (ALL) adult patients at diagnosis. The presence of a TP53 alterations, which represents a marker of poor prognosis, was strictly correlated with an immature DH/JH rearrangement of the immunoglobulin receptor (p < 0.0001). Furthermore, TP53-mutated patients were classified as pro-B ALL more frequently than their wild-type counterpart (46% vs. 25%, p = 0.05). Although the reasons for the co-presence of immature Ig rearrangements and TP53 mutation need to be clarified, this can suggest that the alteration in TP53 is acquired at an early stage of B-cell maturation or even at the level of pre-leukemic transformation.


Silvia Salmoiraghi, Roberta Cavagna, Marie Lorena Guinea Montalvo, Greta Ubiali, Manuela Tosi, Barbara Peruta, Tamara Intermesoli, Elena Oldani, Anna Salvi, Chiara Pavoni, Ursula Giussani, Renato Bassan, Alessandro Rambaldi, Orietta Spinelli. Immature Immunoglobulin Gene Rearrangements Are Recurrent in B Precursor Adult Acute Lymphoblastic Leukemia Carrying TP53 Molecular Alterations. Genes. 2020 Aug 20;11(9)

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PMID: 32825230

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