Page 46 - 2021_06-Haematologica-web
P. 46
M. Novakova et al.
analysis; TK analyzed the flow cytometry data and designed the sorting; JStu managed the patients and contributed to data collec- tion; LW analyzed whole-exome and RNA-seq data; PS and AK performed the investigation in Slovak patients; JSta performed statistical analyses; JZ and TK supervised the molecular genetic data analysis; OH wrote and reviewed the manuscript; EM designed the research, analyzed the data and wrote the manu- script. All authors have read and approved the final submission of the manuscript.
Acknowledgments
The authors would like to thank Iveta Janotova for data man- agement, Alena Houdkova for the morphological review, and
Pavel Semerak, Pavla Luknarova, Katerina Rejlova, Marketa Musilova and Daniel Thurner for processing the flow cytometry samples. We thank the Czech Pediatric Hematology Group for collaboration (Doctors Sterba, Timr, Pospisilova, Votava, Prochazkova, Blazek and Hak).
Funding
This project is the main output of grant number NV18-03- 00343. EF was supported by Primus/17/MED/11. MZ was sup- ported by Primus/MED/28. BV was supported by GAUK number 364119. The FACS Aria instrument was provided by EU-Prague project CZ.2.16/3.1.00/24022. Infrastructure was supported by CZ.2.16/3.1.00/21540 and by CZ.2.16/3.1.00/24505.
References
1.Slamova L, Starkova J, Fronkova E, et al. CD2-positive B-cell precursor acute lym- phoblastic leukemia with an early switch to the monocytic lineage. Leukemia. 2014;28(3):609-620.
2. Lilljebjörn H, Fioretos T. New oncogenic subtypes in pediatric B-cell precursor acute lymphoblastic leukemia. Blood. 2017;130 (12):1395-1401.
3. Passet 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.
4. Rayes A, McMasters RL, O’Brien MM. Lineage switch in MLL-rearranged infant leukemia following CD19-directed therapy. Pediatr Blood Cancer. 2016;63(6):1113-1115.
5. Zoghbi A, zur Stadt U, Winkler B, Müller I, Escherich G. Lineage switch under blinatu- momab treatment of relapsed common acute lymphoblastic leukemia without MLL rearrangement. Pediatr Blood Cancer. 2017;64(11):e26594.
6. Wölfl M, Rasche M, Eyrich M, Schmid R, Reinhardt D, Schlegel PG. Spontaneous reversion of a lineage switch following an initial blinatumomab-induced ALL-to-AML switch in MLL -rearranged infant ALL. Blood Adv. 2018;2(12):1382-1385.
7. Aldoss I, Song JY. Extramedullary relapse of KMT2A ( MLL )-rearranged acute lym- phoblastic leukemia with lineage switch fol- lowing blinatumomab. Blood. 2018;131(22): 2507-2507.
8. Haddox CL, Mangaonkar AA, Chen D, et al. Blinatumomab-induced lineage switch of B- ALL with t(4:11)(q21;q23) KMT2A/AFF1 into an aggressive AML: pre- and post- switch phenotypic, cytogenetic and molecu- lar analysis. Blood Cancer J. 2017;7(9):e607.
9. Jacoby E, Nguyen SM, Fountaine TJ, et al. CD19 CAR immune pressure induces B- precursor acute lymphoblastic leukaemia lineage switch exposing inherent leukaemic plasticity. Nat. Commun. 2016; 7(1):12320.
10. Zaliova M, Hovorkova L, Vaskova M, Hrusak O, Stary J, Zuna J. Slower early response to treatment and distinct expres- sion profile of childhood high hyperdiploid acute lymphoblastic leukaemia with DNA index < 1.16. Genes Chromosom Cancer. 2016;55(9):727-737.
11.Dworzak MN, Buldini B, Gaipa G, et al. AIEOP-BFM Consensus Guidelines 2016 for flow cytometric immunophenotyping of pediatric acute lymphoblastic leukemia. Cytometry B Clin Cytom. 2018;94(1):82-93.
12. Mejstrikova E, Volejnikova J, Fronkova E, et
al. Prognosis of children with mixed pheno- type acute leukemia treated on the basis of consistent immunophenotypic criteria. Haematologica. 2010;95(6):928-935.
13. Vaskova M, Mejstrikova E, Kalina T, et al. Transfer of genomics information to flow cytometry: expression of CD27 and CD44 discriminates subtypes of acute lymphoblas- tic leukemia. Leukemia. 2005;19(5):876-878.
14.Bene MC, Castoldi G, Knapp W, et al. Proposals for the immunological classifica- tion of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia. 1995;9(10): 1783-1786.
15. Hrusak 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.
acute lymphoblastic leukemia in a consecu- tive European cohort. Haematologica. 2019;104(7):1396-1406.
25.Zaliova M, Kotrova M, Bresolin S, et al. ETV6/RUNX1 -like acute lymphoblastic leukemia: a novel B-cell precursor leukemia subtype associated with the CD27/CD44 immunophenotype. Genes Chromosom Cancer. 2017;56(8):608-616.
26. Zaliova M, Potuckova E, Hovorkova L, et al. ERG deletions in childhood acute lym- phoblastic leukemia with DUX4 rearrange- ments are mostly polyclonal, prognostically relevant and their detection rate strongly depends on screening method sensitivity. Haematologica. 2019;104(7):1407-1416.
27. McInnes L, Healy J, Melville J. UMAP: uni- form manifold approximation and projec- tion for dimension reduction. ArXiv e-prints 1802.03426. 2018.
16. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neo- plasms and acute leukemia. Blood. 2016;127(20):2391-405.
28.
29.
Schinnerl D, Mejstrikova E, Schumich A, et al. CD371 cell surface expression: A unique feature of DUX4 -rearranged acute lym- phoblastic leukemia. Haematologica. 2019;104(8):e352-e355.
Gaipa G, Cazzaniga G, Valsecchi MG, et al. Time point-dependent concordance of flow cytometry and real-time quantitative poly- merase chain reaction for minimal residual disease detection in childhood acute lym- phoblastic leukemia. Haematologica. 2012; 97(10):1582-1593.
17. Mejstříková E, Froňková E, Kalina T, et al. Detection of residual B precursor lym- phoblastic leukemia by uniform gating flow cytometry. Pediatr Blood Cancer. 2010;54(1): 62-70.
18. Theunissen P, Mejstrikova E, Sedek L, et al. Standardized flow cytometry for highly sen- sitive MRD measurements in B-cell acute lymphoblastic leukemia. Blood. 2017;129(3): 347-357.
19. Mejstríková E, Hrusak O, Borowitz MJ, et al. CD19-negative relapse of pediatric B-cell precursor acute lymphoblastic leukemia fol- lowing blinatumomab treatment. Blood Cancer J. 2017;7(12):659.
20. van der Velden VHJ, van Dongen JJM. MRD detection in acute lymphoblastic leukemia patients using Ig/TCR gene rearrangements as targets for real-time quantitative PCR. Methods Mol Biol. 2009;538:115-150.
21. Kotrova M, van der Velden VHJ, van Dongen JJM, et al. Next-generation sequenc- ing indicates false-positive MRD results and better predicts prognosis after SCT in patients with childhood ALL. Bone Marrow Transplant. 2017;52(7):962-968.
22. van der Velden VHJ, Cazzaniga G, Schrauder A, et al. Analysis of minimal residual disease by Ig/TCR gene rearrange- ments: guidelines for interpretation of real- time quantitative PCR data. Leukemia. 2007;21(4):604-611.
23. R Core Team. R: a language and environ- ment for statistical computing. R Found Stat Comput. Vienna, Austria. 2014.
24. Zaliova M, Stuchly J, Winkowska L, et al. Genomic landscape of pediatric B-other
30. Černý J, Stříž I. Adaptive innate immunity or innate adaptive immunity? Clin Sci (Lond). 2019;133(14):1549-1565.
31. Pagni F, Fazio G, Zannella S, et al. The role of PAX5 and C/EBP α/b in atypical non- Langerhans cell histiocytic tumor post acute lymphoblastic leukemia. Leukemia. 2014;28 (6):1377-1379.
32. Waanders 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.
33. Crawford K, Gabuzda D, Pantazopoulos V, et al. Circulating CD2+ monocytes are den- dritic cells. J Immunol. 1999;163(11):5920- 5928.
34.Creutzig U, Harbott J, Sperling C, et al. Clinical significance of surface antigen expression in children with acute myeloid leukemia: results of study AML-BFM-87. Blood. 1995;86(8):3097-3108.
35.
Di Stefano B, Collombet S, Jakobsen JS, et al. C/EBPα creates elite cells for iPSC repro- gramming by upregulating Klf4 and increas- ing the levels of Lsd1 and Brd4. Nat Cell Biol. 2016;18(4):371-381.
36. Collombet S, Van Oevelen C, Ortega JLS, et al. Logical modeling of lymphoid and myeloid cell specification and transdifferen- tiation. Proc Natl Acad Sci U S A. 2017;114
2074
haematologica | 2021; 106(8)

