A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity
Marion Strullu
Pediatric Hematology and Immunology Department, Robert-Debré Hospital, APHP, Paris, France
University of Paris Cité, Paris, France
Inserm U1131, IUH, Paris, France
Search for more papers by this authorAurélie Caye-Eude
Inserm U1131, IUH, Paris, France
Genetic Department, Robert-Debré Hospital, APHP, Paris, France
Search for more papers by this authorOdile Fenneteau
Hematology Laboratory, Robert-Debré Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France
Search for more papers by this authorChloé Arfeuille
University of Paris Cité, Paris, France
Inserm U1131, IUH, Paris, France
Genetic Department, Robert-Debré Hospital, APHP, Paris, France
Search for more papers by this authorWendy Cuccuini
Hematology Laboratory, Saint-Louis Hospital, APHP, Paris, France
Search for more papers by this authorHélène Cavé
University of Paris Cité, Paris, France
Inserm U1131, IUH, Paris, France
Genetic Department, Robert-Debré Hospital, APHP, Paris, France
Search for more papers by this authorAndré Baruchel
Pediatric Hematology and Immunology Department, Robert-Debré Hospital, APHP, Paris, France
University of Paris Cité, Paris, France
URP-3518, Institut de Recherche Saint-Louis, Université Paris Cité, Paris, France
Search for more papers by this authorCorresponding Author
Elodie Lainey
University of Paris Cité, Paris, France
Inserm U1131, IUH, Paris, France
Hematology Laboratory, Robert-Debré Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France
Correspondence
Elodie Lainey, Service d'Hématologie Biologique, Hôpital Robert Debré, 48, Boulevard Sérurier, 75019 Paris, France.
Email: [email protected]
Search for more papers by this authorMarion Strullu
Pediatric Hematology and Immunology Department, Robert-Debré Hospital, APHP, Paris, France
University of Paris Cité, Paris, France
Inserm U1131, IUH, Paris, France
Search for more papers by this authorAurélie Caye-Eude
Inserm U1131, IUH, Paris, France
Genetic Department, Robert-Debré Hospital, APHP, Paris, France
Search for more papers by this authorOdile Fenneteau
Hematology Laboratory, Robert-Debré Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France
Search for more papers by this authorChloé Arfeuille
University of Paris Cité, Paris, France
Inserm U1131, IUH, Paris, France
Genetic Department, Robert-Debré Hospital, APHP, Paris, France
Search for more papers by this authorWendy Cuccuini
Hematology Laboratory, Saint-Louis Hospital, APHP, Paris, France
Search for more papers by this authorHélène Cavé
University of Paris Cité, Paris, France
Inserm U1131, IUH, Paris, France
Genetic Department, Robert-Debré Hospital, APHP, Paris, France
Search for more papers by this authorAndré Baruchel
Pediatric Hematology and Immunology Department, Robert-Debré Hospital, APHP, Paris, France
University of Paris Cité, Paris, France
URP-3518, Institut de Recherche Saint-Louis, Université Paris Cité, Paris, France
Search for more papers by this authorCorresponding Author
Elodie Lainey
University of Paris Cité, Paris, France
Inserm U1131, IUH, Paris, France
Hematology Laboratory, Robert-Debré Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France
Correspondence
Elodie Lainey, Service d'Hématologie Biologique, Hôpital Robert Debré, 48, Boulevard Sérurier, 75019 Paris, France.
Email: [email protected]
Search for more papers by this author
REFERENCES
- 1Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022; 36(7): 1703-1719. doi:10.1038/s41375-022-01613-1
- 2Hrusak O, de Haas V, Stancikova J, et al. International cooperative study identifies treatment strategy in childhood ambiguous lineage leukemia. Blood. 2018; 132(3): 264-276. doi:10.1182/blood-2017-12-821363
- 3Passet M, Boissel N, Sigaux F, et al. PAX5 P80R mutation identifies a novel subtype of B-cell precursor acute lymphoblastic leukemia with favorable outcome. Blood. 2019; 133(3): 280-284. doi:10.1182/blood-2018-10-882142
- 4Gu Z, Churchman ML, Roberts KG, et al. PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia. Nat Genet. 2019; 51(2): 296-307. doi:10.1038/s41588-018-0315-5
- 5Simmons S, Knoll M, Drewell C, et al. Biphenotypic B-lymphoid/myeloid cells expressing low levels of Pax5: potential targets of BAL development. Blood. 2012; 120(18): 3688-3698. doi:10.1182/blood-2012-03-414821
- 6Cobaleda C, Jochum W, Busslinger M. Conversion of mature B cells into T cells by dedifferentiation to uncommitted progenitors. Nature. 2007; 449(7161): 473-477. doi:10.1038/nature06159
- 7Jung M, Schieck M, Hofmann W, et al. Frequency and prognostic impact of PAX5 p.P80R in pediatric acute lymphoblastic leukemia patients treated on an AIEOP-BFM acute lymphoblastic leukemia protocol. Genes Chromosomes Cancer. 2020; 59(11): 667-671. doi:10.1002/gcc.22882
- 8Pagni F, Fazio G, Zannella S, et al. The role of PAX5 and C/EBP α/β in atypical non-Langerhans cell histiocytic tumor post acute lymphoblastic leukemia. Leukemia. 2014; 28(6): 1377-1379. doi:10.1038/leu.2014.87
- 9Waanders E, Hebeda KM, Kamping EJ, et al. Independent development of lymphoid and histiocytic malignancies from a shared early precursor. Leukemia. 2016; 30(4): 955-958. doi:10.1038/leu.2015.193
- 10Rossi JG, Bernasconi AR, Alonso CN, et al. Lineage switch in childhood acute leukemia: an unusual event with poor outcome. Am J Hematol. 2012; 87(9): 890-897. doi:10.1002/ajh.23266
- 11Bastian L, Schroeder MP, Eckert C, et al. PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemia. Leukemia. 2019; 33(8): 1895-1909. doi:10.1038/s41375-019-0430-z
- 12Novakova M, Zaliova M, Fiser K, et al. DUX4r, ZNF384r and PAX5-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch. Haematologica. 2021; 106(8): 2066-2075. doi:10.3324/haematol.2020.250423
- 13Mallik S, Yeung D, Rehn J, et al. Monocytoid switch in an adult with B-cell precursor acute lymphoblastic leukaemia characterised by the PAX5 P80R mutation. Pathology (Phila). 2022; 54(5): 631-634. doi:10.1016/j.pathol.2021.09.019
- 14Kroeze LI, Scheijen B, Hebeda KM, et al. PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution assessment using NGS-based immunoglobulin clonality and mutation analysis. Virchows Arch. 2023; 483(1): 105-110. doi:10.1007/s00428-022-03428-y
