Acute Myeloid Leukemia with Rare Recurring Translocations-an Overview of the Entities Included in the International Consensus Classification

Overview

Journal Ann Hematol

Specialty Hematology

Date 2024 Mar 5

PMID 38443661

Authors

Synne D Rorvik

Synne Torkildsen

Oystein Bruserud

Tor Henrik Anderson Tvedt

Affiliations

Soon will be listed here.

Abstract

Two different systems exist for subclassification of acute myeloid leukemia (AML); the World Health Organization (WHO) Classification and the International Consensus Classification (ICC) of myeloid malignancies. The two systems differ in their classification of AML defined by recurrent chromosomal abnormalities. One difference is that the ICC classification defines an AML subset that includes 12 different genetic abnormalities that occur in less than 4% of AML patients. These subtypes exhibit distinct clinical traits and are associated with treatment outcomes, but detailed description of these entities is not easily available and is not described in detail even in the ICC. We searched in the PubMed database to identify scientific publications describing AML patients with the recurrent chromosomal abnormalities/translocations included in this ICC defined patient subset. This patient subset includes AML with t(1;3)(p36.3;q21.3), t(3;5)(q25.3;q35.1), t(8;16)(p11.2;p13.3), t(1;22)(p13.3;q13.1), t(5;11)(q35.2;p15.4), t(11;12)(p15.4;p13.3) (involving NUP98), translocation involving NUP98 and other partner, t(7;12)(q36.3;p13.2), t(10;11)(p12.3;q14.2), t(16;21)(p11.2;q22.2), inv(16)(p13.3q24.3) and t(16;21)(q24.3;q22.1). In this updated review we describe the available information with regard to frequency, biological functions of the involved genes and the fusion proteins, morphology/immunophenotype, required diagnostic procedures, clinical characteristics (including age distribution) and prognostic impact for each of these 12 genetic abnormalities.

Citing Articles

The Role of Epithelial-to-Mesenchymal Transition Transcription Factors (EMT-TFs) in Acute Myeloid Leukemia Progression.

Cuevas D, Amigo R, Agurto A, Heredia A, Guzman C, Recabal-Beyer A Biomedicines. 2024; 12(8).

PMID: 39200378 PMC: 11351244. DOI: 10.3390/biomedicines12081915.

References

Zhu H, Yang M, Wang F, Lou Y, Jin J, Li K . Identification of a novel NUP98-RARA fusion transcript as the 14th variant of acute promyelocytic leukemia. Am J Hematol. 2020; 95(7):E184-E186. DOI: 10.1002/ajh.25807. View

Coenen E, Zwaan C, Reinhardt D, Harrison C, Haas O, de Haas V . Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Munster AML-study group. Blood. 2013; 122(15):2704-13. PMC: 4314534. DOI: 10.1182/blood-2013-02-485524. View

Hsiao H, Yang M, Liu Y, Hsiao H, Tseng S, Chao M . RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient. Am J Hematol. 2005; 79(1):43-5. DOI: 10.1002/ajh.20298. View

Crisci S, Pota E, Iaccarino G, Postiglione I, Meo C, Mele S . Childhood Therapy-Related Acute Myeloid Leukemia with t(16;21)(q24;q22)/RUNX1-CBFA2T3 After a Primitive Neuroectodermal Tumor of the Chest Wall. Clin Lymphoma Myeloma Leuk. 2020; 20(10):e660-e666. DOI: 10.1016/j.clml.2020.05.020. View

Shimizu S, Suzukawa K, Kodera T, Nagasawa T, Abe T, Taniwaki M . Identification of breakpoint cluster regions at 1p36.3 and 3q21 in hematologic malignancies with t(1;3)(p36;q21). Genes Chromosomes Cancer. 2000; 27(3):229-38. DOI: 10.1002/(sici)1098-2264(200003)27:3<229::aid-gcc2>3.0.co;2-0. View

La Starza R, Crescenzi B, Krause A, Pierini V, Specchia G, Bardi A . Dual-color split signal fluorescence in situ hybridization assays for the detection of CALM/AF10 in t(10;11)(p13;q14-q21)-positive acute leukemia. Haematologica. 2006; 91(9):1248-51. View

Park M, Kim H, Lee J, Cho D, Jung C, Kim H . The First Case of Acute Myeloid Leukemia With t(10;11)(p13;q21); Rearrangement Presenting With Extensive Skin Involvement. Ann Lab Med. 2022; 43(3):310-314. DOI: 10.3343/alm.2023.43.3.310. View

Pine S, Guo Q, Yin C, Jayabose S, Druschel C, Sandoval C . Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood. 2007; 110(6):2128-31. DOI: 10.1182/blood-2007-01-069542. View

Xiao Z, Zhang M, Liu X, Zhang Y, Yang L, Hao Y . MEL1S, not MEL1, is overexpressed in myelodysplastic syndromes patients with t(1;3)(p36;q21). Leuk Res. 2005; 30(3):332-4. DOI: 10.1016/j.leukres.2005.07.002. View

10.

Moir D, Jones P, Pearson J, Duncan J, Cook P, Buckle V . A new translocation, t(1;3) (p36;q21), in myelodysplastic disorders. Blood. 1984; 64(2):553-5. View

11.

Ballabio E, Cantarella C, Federico C, Di Mare P, Hall G, Harbott J . Ectopic expression of the HLXB9 gene is associated with an altered nuclear position in t(7;12) leukaemias. Leukemia. 2009; 23(6):1179-82. DOI: 10.1038/leu.2009.15. View

12.

Eidenschink Brodersen L, Alonzo T, Menssen A, Gerbing R, Pardo L, Voigt A . A recurrent immunophenotype at diagnosis independently identifies high-risk pediatric acute myeloid leukemia: a report from Children's Oncology Group. Leukemia. 2016; 30(10):2077-2080. PMC: 5136463. DOI: 10.1038/leu.2016.119. View

13.

Tao S, Song L, Deng Y, Chen Y, Shi Y, Gan Y . Acute Myeloid Leukemia with Gene Fusion Similar to Acute Promyelocytic Leukemia: Case Report and Literature Review. Onco Targets Ther. 2020; 13:10559-10566. PMC: 7574910. DOI: 10.2147/OTT.S273172. View

14.

Taketani T, Taki T, Sako M, Ishii T, Yamaguchi S, Hayashi Y . MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia and expression of the MNX1 gene in leukemia and normal B cell lines. Cancer Genet Cytogenet. 2008; 186(2):115-9. DOI: 10.1016/j.cancergencyto.2008.06.009. View

15.

DiNardo C, Tang G, Pemmaraju N, Wang S, Pike A, Garcia-Manero G . Acute myeloid leukemia with t(10;11): a pathological entity with distinct clinical presentation. Clin Lymphoma Myeloma Leuk. 2014; 15(1):47-51. PMC: 4849878. DOI: 10.1016/j.clml.2014.06.022. View

16.

Khoury J, Solary E, Abla O, Akkari Y, Alaggio R, Apperley J . The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022; 36(7):1703-1719. PMC: 9252913. DOI: 10.1038/s41375-022-01613-1. View

17.

Antony-Debre I, Duployez N, Bucci M, Geffroy S, Micol J, Renneville A . Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. Leukemia. 2015; 30(4):999-1002. DOI: 10.1038/leu.2015.236. View

18.

Gruber T, Gedman A, Zhang J, Koss C, Marada S, Ta H . An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. Cancer Cell. 2012; 22(5):683-97. PMC: 3547667. DOI: 10.1016/j.ccr.2012.10.007. View

19.

Brouwer N, Matarraz S, Nierkens S, Hofmans M, Novakova M, da Costa E . Immunophenotypic Analysis of Acute Megakaryoblastic Leukemia: A EuroFlow Study. Cancers (Basel). 2022; 14(6). PMC: 8946548. DOI: 10.3390/cancers14061583. View

20.

Mauritzson N, Albin M, Rylander L, Billstrom R, Ahlgren T, Mikoczy Z . Pooled analysis of clinical and cytogenetic features in treatment-related and de novo adult acute myeloid leukemia and myelodysplastic syndromes based on a consecutive series of 761 patients analyzed 1976-1993 and on 5098 unselected cases reported.... Leukemia. 2002; 16(12):2366-78. DOI: 10.1038/sj.leu.2402713. View