The role of PAX5 and C/EBP α/β in atypical non-Langerhans cell histiocytic tumor post acute lymphoblastic leukemia

Pagni, Fabio; Fazio, Grazia; Zannella, Stefano; Spinelli, Michela; Angelis, Claudia De; Cusi, Carlo; Crosti, Francesca; Corral, Lilia; Bugarin, Cristina; Biondi, Andrea; Cazzaniga, Giovanni; Isimbaldi, Giuseppe; Cattoretti, Giorgio

doi:10.1038/leu.2014.87

Cited by 6 publications

(2 citation statements)

References 14 publications

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“…Rarely B-cell malignancies of various stages of differentiation under unknown circumstances can undergo transdifferentiation into myeloid/histiocytic malignancies. 31 , 32 An interesting area for future investigation is the relationship between of monocytic cells to their CD14 pos dendritic cells counterparts. CD2, a frequent aberrant marker of BCP ALL blasts prior to monocytic switching, does not clarify their fate as it is known to be expressed in subsets of both dendritic cells 33 and monocytic AML.…”

Section: Discussionmentioning

confidence: 99%

DUX4r, ZNF384r and PAX5-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch

et al. 2020

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Recently, we described B-cell precursor acute lymphoblastic leukemia (BCP-ALL) subtype with an early switch to the monocytic lineage and the loss of the B-cell immunophenotype, including CD19 expression. Thus far, the genetic background has remained unknown. Among 726 children consecutively diagnosed with BCP-ALL, 8% patients experienced a switch detectable by flow cytometry (FC). Using exome and RNA sequencing, the switch was found to positively correlate with three different genetic subtypes: PAX5 -P80R mutation (five cases with switch of five), rearranged ( DUX4r ) (30 cases of 41) and rearranged ( ZNF384r ) (four cases of ten). Expression profiles or phenotypic patterns correlated with genotypes, but within each genotype no cases who subsequently switched could be indentified. If switching was not taken into account, the B-cell-oriented FC assessment underestimated the minimal residual disease level. For patients with P AX5- P80R, a discordance between FC-determined and polymerase chain reactiondetermined minimal residual disease was found on day 15, resulting from a rapid loss of the B-cell phenotype. Discordance on day 33 was observed in all the DUX4r , PAX5 -P80R and ZNF384r subtypes. Importantly, despite the substantial phenotypic changes, possibly even challenging the appropriateness of BCP-ALL therapy, the monocytic switch was not associated with a higher incidence of relapse and poorer prognosis in patients undergoing standard ALL treatment.

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Section: Discussionmentioning

confidence: 99%

DUX4r, ZNF384r and PAX5-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch

et al. 2020

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“…Most reported cases, including ours, exhibit a biallelic PAX5 alteration, suggesting that complete loss of PAX5 function plays a crucial role in PAX5 P80R oncogenesis. 7 Nevertheless, the reasons why some pediatric B-ALL with PAX5 P80R switch to the monocytic lineage are still poorly understood, [8][9][10] and their low prevalence (<2%) 11 makes it difficult to study. In DUX4 + B-ALL, CD2 expression has been described prior to monocytic switch, which itself occurs after corticosteroid administration.…”

Section: A Pax5 P80r Pediatric B Acute Lymphoblastic Leukemia With Mo...mentioning

confidence: 99%

A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity

Strullu,

Caye‐Eude,

Fenneteau

et al. 2024

Pediatric Blood & Cancer

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PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution assessment using NGS-based immunoglobulin clonality and mutation analysis

et al. 2022

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Clonality assessment by the detection of immunoglobulin (IG) gene rearrangements is an important method to determine whether two concurrent or subsequent lymphoid malignancies in one patient are clonally related. Here, we report the detailed clonality analysis in a patient with a diagnosis of B-cell acute lymphoblastic leukemia (B-ALL) followed by a histiocytic sarcoma (HS), in which we were able to study clonal evolution by applying next generation sequencing (NGS) to identify IG rearrangements and gene mutations. Using the sequence information of the NGS-based IG clonality analysis, multiple related subclones could be distinguished in the PAX5 P80R-mutated B-ALL. Notably, only one of these subclones evolved into HS after acquiring a RAF1 mutation. This case demonstrates that NGS-based IG clonality assessment and mutation analysis provide clear added value for clonal comparison and thereby improves clinicobiological understanding.

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The role of PAX5 and C/EBP α/β in atypical non-Langerhans cell histiocytic tumor post acute lymphoblastic leukemia

Cited by 6 publications

References 14 publications

<i>DUX4r</i>, <i>ZNF384r</i> and <i>PAX5</i>-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch

<i>DUX4r</i>, <i>ZNF384r</i> and <i>PAX5</i>-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch

A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity

PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution assessment using NGS-based immunoglobulin clonality and mutation analysis

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