505
Views
3
CrossRef citations to date
0
Altmetric
Invited Review Articles

The genomic and biological complexity of mixed phenotype acute leukemia

, &
Pages 153-166 | Received 12 Jun 2020, Accepted 24 Sep 2020, Published online: 08 Nov 2020

References

  • Kung P, Goldstein G, Reinherz EL, et al. Monoclonal antibodies defining distinctive human T cell surface antigens. Science. 1979;206(4416):347–349.
  • Smith LJ, Curtis JE, Messner HA, et al. Lineage infidelity in acute leukemia. Blood. 1983;61(6):1138–1145.
  • Greaves MF, Chan LC, Furley AJ, et al. Lineage promiscuity in hemopoietic differentiation and leukemia. Blood. 1986;67(1):1–11.
  • Alexander TB, Gu Z, Iacobucci I, et al. The genetic basis and cell of origin of mixed phenotype acute leukaemia. Nature. 2018;562(7727):373–379.
  • Takahashi K, Wang F, Morita K, et al. Integrative genomic analysis of adult mixed phenotype acute leukemia delineates lineage associated molecular subtypes. Nat Commun. 2018;9(1):2670.
  • Xiao W, Bharadwaj M, Levine M, et al. PHF6 and DNMT3A mutations are enriched in distinct subgroups of mixed phenotype acute leukemia with T-lineage differentiation. Blood Adv. 2018;2(23):3526–3539.
  • Borowitz MJ, Bene M-C, Harris NL, et al. Acute leukemias of ambigous lineage. In: Swerdlow SH, Campo E, Harris NL, et al., editors. WHO classification of tumours of haematopoietic and lymphoid tissues. Vol. 2. Revised 4th ed. Lyons (France): IARC; 2017. p. 180–185.
  • Borowitz MJ, Bene MC, Harris NL, et al. Acute leukemias of ambiguous lineage. In: Swerdlow SH, Campo E, Harris NL, et al., editors. WHO classification of tumours of haematopoietic and lymphoid tissues. Vol. 2. 4th ed. Lyon, (France): IARC; 2008. p. 149–155.
  • Taussig DC, Pearce DJ, Simpson C, et al. Hematopoietic stem cells express multiple myeloid markers: implications for the origin and targeted therapy of acute myeloid leukemia. Blood. 2005;106(13):4086–4092.
  • Eissens DN, Spanholtz J, van der Meer A, et al. Defining early human NK cell developmental stages in primary and secondary lymphoid tissues. PLoS One. 2012;7(2):e30930.
  • Haubner S, Perna F, Kohnke T, et al. Coexpression profile of leukemic stem cell markers for combinatorial targeted therapy in AML. Leukemia. 2019;33(1):64–74.
  • Patel KP, Khokhar FA, Muzzafar T, et al. TdT expression in acute myeloid leukemia with minimal differentiation is associated with distinctive clinicopathological features and better overall survival following stem cell transplantation. Mod Pathol. 2013;26(2):195–203.
  • Wolach O, Stone RM. How I treat mixed-phenotype acute leukemia. Blood. 2015;125(16):2477–2485.
  • Bene MC. Biphenotypic, bilineal, ambiguous or mixed lineage: strange leukemias! Haematologica. 2009;94(7):891–893.
  • 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.
  • Wolach O, Stone RM. Mixed-phenotype acute leukemia: current challenges in diagnosis and therapy. Curr Opin Hematol. 2017;24(2):139–145.
  • Patel SS, Weinberg OK. Diagnostic workup of acute leukemias of ambiguous lineage. Am J Hematol. 2020;95(6):718–722.
  • Matarraz S, Lopez A, Barrena S, et al. The immunophenotype of different immature, myeloid and B-cell lineage-committed CD34+ hematopoietic cells allows discrimination between normal/reactive and myelodysplastic syndrome precursors. Leukemia. 2008;22(6):1175–1183.
  • Guy J, Antony-Debre I, Benayoun E, et al. Flow cytometry thresholds of myeloperoxidase detection to discriminate between acute lymphoblastic or myeloblastic leukaemia. Br J Haematol. 2013;161(4):551–555.
  • van den Ancker W, Westers TM, de Leeuw DC, et al. A threshold of 10% for myeloperoxidase by flow cytometry is valid to classify acute leukemia of ambiguous and myeloid origin. Cytometry. 2013;84B(2):114–118.
  • Serrano J, Roman J, Jimenez A, et al. Genetic, phenotypic and clinical features of acute lymphoblastic leukemias expressing myeloperoxidase mRNA detected by RT-PCR. Leukemia. 1999;13(2):175–180.
  • Oberley MJ, Li S, Orgel E, et al. Clinical significance of isolated myeloperoxidase expression in pediatric B-lymphoblastic leukemia. Am J Clin Pathol. 2017;147(4):374–381.
  • Porwit A, Bene MC. Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia. Cytometry B Clin Cytom. 2019;96(3):183–194.
  • Porwit A, Bene MC. Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia (MPAL.). Cytometry. 2019;96(3):183–194.
  • Hoehn D, Medeiros LJ, Chen SS, et al. CD117 expression is a sensitive but nonspecific predictor of FLT3 mutation in T acute lymphoblastic leukemia and T/myeloid acute leukemia. Am J Clin Pathol. 2012;137(2):213–219.
  • Zhang J, Ding L, Holmfeldt L, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature. 2012;481(7380):157–163.
  • 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.
  • Owaidah TM, Al Beihany A, Iqbal MA, et al. Cytogenetics, molecular and ultrastructural characteristics of biphenotypic acute leukemia identified by the EGIL scoring system. Leukemia. 2006;20(4):620–626.
  • Yan L, Ping N, Zhu M, et al. Clinical, immunophenotypic, cytogenetic, and molecular genetic features in 117 adult patients with mixed-phenotype acute leukemia defined by WHO-2008 classification. Haematologica. 2012;97(11):1708–1712.
  • Weinberg OK, Seetharam M, Ren L, et al. Mixed phenotype acute leukemia: a study of 61 cases using World Health Organization and European Group for the immunological classification of leukaemias criteria. Am J Clin Pathol. 2014;142(6):803–808.
  • Shi R, Munker R. Survival of patients with mixed phenotype acute leukemias: a large population-based study. Leuk Res. 2015;39(6):606–616.
  • Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–2405.
  • Wang Y, Gu M, Mi Y, et al. Clinical characteristics and outcomes of mixed phenotype acute leukemia with Philadelphia chromosome positive and/or bcr-abl positive in adult. Int J Hematol. 2011;94(6):552–555.
  • Matutes E, Pickl WF, Van’t Veer M, et al. Mixed-phenotype acute leukemia: clinical and laboratory features and outcome in 100 patients defined according to the WHO 2008 classification. Blood. 2011;117(11):3163–3171.
  • Lafage-Pochitaloff M, Baranger L, Hunault M, et al. Impact of cytogenetic abnormalities in adults with Ph-negative B-cell precursor acute lymphoblastic leukemia. Blood. 2017;130(16):1832–1844.
  • Kresch MP, Xiao W, Menghrajani K, et al. Acute leukemia with lineage infidelity: mixed phenotype AML exhibits a distinct immunophenotype with clinical features overlapping mixed phenotype acute leukemia. Blood. 2019;134(Supplement_1):2718.
  • Challen GA, Sun D, Jeong M, et al. Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet. 2011;44(1):23–31.
  • Bolouri H, Farrar JE, Triche T, Jr, et al. The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions. Nat Med. 2018;24(1):103–112.
  • Liu YF, Wang BY, Zhang WN, et al. Genomic profiling of adult and pediatric B-cell acute lymphoblastic leukemia. EBioMedicine. 2016;8:173–183.
  • Velten L, Haas SF, Raffel S, et al. Human haematopoietic stem cell lineage commitment is a continuous process. Nat Cell Biol. 2017;19(4):271–281.
  • Pomerantz A, Rodriguez-Rodriguez S, Demichelis-Gomez R, et al. Mixed-phenotype acute leukemia: suboptimal treatment when the 2008/2016 WHO classification is used. Blood Res. 2016;51(4):233–241.
  • Maruffi M, Sposto R, Oberley MJ, et al. Therapy for children and adults with mixed phenotype acute leukemia: a systematic review and meta-analysis. Leukemia. 2018;32(7):1515–1528.
  • Munker R, Labopin M, Esteve J, et al. Mixed phenotype acute leukemia: outcomes with allogeneic stem cell transplantation. a retrospective study from the Acute Leukemia Working Party of the EBMT. Haematologica. 2017;102(12):2134–2140.
  • Munker R, Brazauskas R, Wang HL, et al. Allogeneic hematopoietic cell transplantation for patients with mixed phenotype acute leukemia. Biol Blood Marrow Transplant. 2016;22(6):1024–1029.
  • Getta BM, Roshal M, Zheng J, et al. Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning is associated with favorable outcomes in mixed phenotype acute leukemia. Biol Blood Marrow Transplant. 2017;23(11):1879–1886.
  • Andrews C, Atenafu EG, Murphy T, et al. Allogeneic stem cell transplantation has limited benefit in older patients with mixed phenotype acute leukemia. Blood. 2019;134(Supplement_1):5725.
  • Fielding AK, Rowe JM, Buck G, et al. UKALLXII/ECOG2993: addition of imatinib to a standard treatment regimen enhances long-term outcomes in Philadelphia positive acute lymphoblastic leukemia. Blood. 2014;123(6):843–850.
  • Shimizu H, Yokohama A, Hatsumi N, et al. Philadelphia chromosome-positive mixed phenotype acute leukemia in the imatinib era. Eur J Haematol. 2014;93(4):297–301.
  • Couban S, Savoie L, Mourad YA, et al. Evidence-based guidelines for the use of tyrosine kinase inhibitors in adults with Philadelphia chromosome-positive or BCR-ABL-positive acute lymphoblastic leukemia: a Canadian consensus. Curr Oncol. 2014;21(2):e265–e309.
  • Saini L, Brandwein J. New treatment strategies for Philadelphia chromosome-positive acute lymphoblastic leukemia. Curr Hematol Malig Rep. 2017;12(2):136–142.
  • Stone RM, Mandrekar SJ, Sanford BL, et al. Midostaurin plus chemotherapy for acute myeloid leukemia with a FLT3 mutation. N Engl J Med. 2017;377(5):454–464.
  • Perl AE, Martinelli G, Cortes JE, et al. Gilteritinib or chemotherapy for relapsed or refractory FLT3-mutated AML. N Engl J Med. 2019;381(18):1728–1740.
  • DiNardo CD, Pratz K, Pullarkat V, et al. Venetoclax combined with decitabine or azacitidine in treatment-naive, elderly patients with acute myeloid leukemia. Blood. 2019;133(1):7–17.
  • Pollyea DA, Stevens BM, Jones CL, et al. Venetoclax with azacitidine disrupts energy metabolism and targets leukemia stem cells in patients with acute myeloid leukemia. Nat Med. 2018;24(12):1859–1866.
  • Khan N, Hills RK, Knapper S, et al. Normal hematopoietic progenitor subsets have distinct reactive oxygen species, BCL2 and cell-cycle profiles that are decoupled from maturation in acute myeloid leukemia. PLoS One. 2016;11(9):e0163291.
  • Kantarjian H, Stein A, Gokbuget N, et al. Blinatumomab versus chemotherapy for advanced acute lymphoblastic leukemia. N Engl J Med. 2017;376(9):836–847.
  • El Chaer F, Ali OM, Sausville EA, et al. Treatment of CD19-positive mixed phenotype acute leukemia with blinatumomab. Am J Hematol. 2019;94(1):e7–e8.
  • Durer S, Durer C, Shafqat M, et al. Concomitant use of blinatumomab and donor lymphocyte infusion for mixed-phenotype acute leukemia: a case report with literature review. Immunotherapy. 2019;11(5):373–378.
  • Jongen-Lavrencic M, Grob T, Hanekamp D, et al. Molecular minimal residual disease in acute myeloid leukemia. N Engl J Med. 2018;378(13):1189–1199.
  • Bassan R, Spinelli O, Oldani E, et al. Improved risk classification for risk-specific therapy based on the molecular study of minimal residual disease (MRD) in adult acute lymphoblastic leukemia (ALL). Blood. 2009;113(18):4153–4162.
  • Oberley MJ, Raikar SS, Wertheim GB, et al. Significance of minimal residual disease in pediatric mixed phenotype acute leukemia: a multicenter cohort study. Leukemia. 2020;34(7):1741–1750.
  • Charles NJ, Boyer DF. Mixed-phenotype acute leukemia: diagnostic criteria and pitfalls. Arch Pathol Lab Med. 2017;141(11):1462–1468.
  • Shimizu H, Saitoh T, Machida S, et al. Allogeneic hematopoietic stem cell transplantation for adult patients with mixed phenotype acute leukemia: results of a matched-pair analysis. Eur J Haematol. 2015;95(5):455–460.
  • Minervini CF, Cumbo C, Orsini P, et al. Nanopore sequencing in blood diseases: a wide range of opportunities. Front Genet. 2020;11:76.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.