Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-745bb68f8f-hvd4g Total loading time: 0 Render date: 2025-01-31T23:46:24.682Z Has data issue: false hasContentIssue false

Chapter 12 - Ambiguous Lineage and Mixed Phenotype Acute Leukaemia

Published online by Cambridge University Press:  30 January 2025

By
Anna Porwit  and
Marie-Christine Béné
Edited by
Anna Porwit  and
Marie Christine Béné
Anna Porwit
Affiliation:
Lunds Universitet, Sweden
Marie Christine Béné
Affiliation:
Université de Nantes, France
Get access

Summary

Mixed-phenotype acute leukaemia is a generic classification item collecting leukaemias with two clones of different lineage or really abnormal cells expressing markers of several lineages. Their identification relies on both morphological and immunophenotypic features. From a cytogenetic/molecular point of view, their heterogeneity is amazing. Clinical management of such patients is getting progressively better stratified, allogeneic hematopoietic stem cell transplantation remaining the best option, with a possibly better approach for patients with Philadelphia chromosome. This is a typical example of the need for integrated diagnosis.

Keywords

flow cytometryimmunophenotypingmixed phenotype acute leukemiabiclonalpanelB-lineageT-lineagemyeloid lineagemyeloperoxidase (MPO)KMT2A, BCR-ABL1
Type
Chapter
Information
Multiparameter Flow Cytometry in the Diagnosis of Hematologic Malignancies , pp. 193 - 202
Publisher: Cambridge University Press
Print publication year: 2025

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Swerdlow, SH, Campo, E, Harris, NL, et al. Who Classification of Tumours of Haematopoietic and Lymphoid Tissues (Lyon: IARC, 2008).Google Scholar
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: 2391–2405.CrossRefGoogle Scholar
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: 3163–3171.CrossRefGoogle Scholar
Shi, R, Munker, R. Survival of patients with mixed phenotype acute leukemias: A large population-based study. Leuk Res 2015; 39: 606–616.CrossRefGoogle ScholarPubMed
Wolach, O, Stone, RM. Optimal therapeutic strategies for mixed phenotype acute leukemia. Curr Opin Hematol 2020; 27: 95–102.CrossRefGoogle ScholarPubMed
Heesch, S, Neumann, M, Schwartz, S, et al. Acute leukemias of ambiguous lineage in adults: molecular and clinical characterization. Ann Hematol 2013; 92: 747–758.CrossRefGoogle ScholarPubMed
Khoury, 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: 1703–1719.CrossRefGoogle ScholarPubMed
Weinberg, OK, Arber, DA, Döhner, H, et al. The International Consensus Classification of acute leukemias of ambiguous lineage. Blood 2023; 141: 2275–2277.Google ScholarPubMed
Béné, MC, Castoldi, G, Knapp, W, et al. Proposals for the immunological classification of acute leukemias: European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia 1995; 9: 1783–1786.Google Scholar
Weinberg, OK, Hasserjian, RP, Baraban, E, et al. Clinical, immunophenotypic, and genomic findings of acute undifferentiated leukemia and comparison to acute myeloid leukemia with minimal differentiation: a study from the bone marrow pathology group. Mod Pathol 2019; 32: 1373–1385.CrossRefGoogle ScholarPubMed
Béné, MC, Nebe, T, Bettelheim, P, et al. Immunophenotyping of acute leukemia and lymphoproliferative disorders: a consensus proposal of the European LeukemiaNet Work Package 10. Leukemia 2011; 25: 567–574.CrossRefGoogle ScholarPubMed
Béné, MC, Porwit, A. Acute leukemias of ambiguous lineage. Semin Diagn Pathol 2012; 29: 12–18.CrossRefGoogle ScholarPubMed
Béné, MC, Bernier, M, Casasnovas, RO, et al. Acute myeloid leukaemia M0: haematological, immunophenotypic and cytogenetic characteristics and their prognostic significance: an analysis in 241 patients. Br J Haematol 2001; 113: 737–745.CrossRefGoogle ScholarPubMed
Porwit, A, Béné, MC. Acute leukemias of ambiguous origin. Am J Clin Pathol 2015; 144: 361–376.CrossRefGoogle ScholarPubMed
Deotare, U, Yee, KW, Le, LW, et al. Blastic plasmacytoid dendritic cell neoplasm with leukemic presentation: 10-color flow cytometry diagnosis and HyperCVAD therapy. Am J Hematol 2016; 91: 283–286.CrossRefGoogle ScholarPubMed
Pagano, L, Valentini, CG, Grammatico, S, Pulsoni, A. Blastic plasmacytoid dendritic cell neoplasm: diagnostic criteria and therapeutical approaches. Br J Haematol 2016; 174: 188–202.CrossRefGoogle ScholarPubMed
Oschlies, I, Burkhardt, B, Chassagne-Clement, C, et al. Diagnosis and immunophenotype of 188 pediatric lymphoblastic lymphomas treated within a randomized prospective trial: experiences and preliminary recommendations from the European childhood lymphoma pathology panel. Am J Surg Pathol 2011; 35: 836–844.CrossRefGoogle ScholarPubMed
Narayanan, G, Sugeeth, MT, Soman, LV. Mixed phenotype acute leukemia presenting as leukemia cutis. Case Rep Med 2016; 2016: 1298375.CrossRefGoogle ScholarPubMed
Borowitz, MJ. Mixed phenotype acute leukemia. Cytometry B Clin Cytom 2014; 86: 152–153.CrossRefGoogle ScholarPubMed
Harris, N, Jaffe, E, Stein, HVJ, Vardiman, JW. Pathology and Genetics of Tumors of Hematopoietic and Lymphoid Tissues (Lyon: IARC, 2001).Google Scholar
Alexander, TB, Gu, Z, Iacobucci, I, et al. The genetic basis and cell of origin of mixed phenotype acute leukaemia. Nature 2018; 562: 373–379.CrossRefGoogle ScholarPubMed
Weinberg, OK, Dennis, J, Zia, H, et al. Adult mixed phenotype acute leukemia (MPAL): B/myeloid MPALisoMPO is distinct from other MPAL subtypes. Int J Lab Hematol 2023; 45: 170–178.CrossRefGoogle ScholarPubMed
Porwit, A, Béné, MC. Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia. Cytometry B Clin Cytom 2019; 96: 183–194.CrossRefGoogle ScholarPubMed
Wang, Q, Cai, WZ, Wang, QR, et al. Integrative genomic and transcriptomic profiling reveals distinct molecular subsets in adult mixed phenotype acute leukemia. Am J Hematol 2023; 98: 66–78.CrossRefGoogle ScholarPubMed
Montefiori, LE, Mullighan, CG. Redefining the biological basis of lineage-ambiguous leukemia through genomics: BCL11B deregulation in acute leukemias of ambiguous lineage. Best Pract Res Clin Haematol 2021; 34: 101329.CrossRefGoogle ScholarPubMed
van Dongen, JJ, Lhermitte, L, Böttcher, S, et al.; EuroFlow Consortium (EU-FP6, LSHB-CT-2006-018708). EuroFlow antibody panels for standardized n-dimensional flow cytometric immunophenotyping of normal, reactive and malignant leukocytes. Leukemia 2012; 26: 1908–1975CrossRefGoogle ScholarPubMed
Porwit, A, Rajab, A. Flow cytometry immunophenotyping in integrated diagnostics of patients with newly diagnosed cytopenia: one tube 10-color 14-antibody screening panel and 3-tube extensive panel for detection of MDS-related features. Int J Lab Hematol 2015; 37 Suppl 1:133–143.CrossRefGoogle ScholarPubMed
Collective Publication. Panel proposal for the immunophenotypic diagnosis of hematological malignancies: a collaborative consensus from the groupe d’Etude Immunologique des Leucémies (GEIL). Cytometry B Clin Cytom 2018; 94: 542–547.CrossRefGoogle Scholar

Save book to Kindle

To save this book to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×