BCR-ABL1 co-occurring with CBFA2T3-GLIS2 and RAM immunophenotype in a non-Down syndrome infant with acute megakaryoblastic leukemia

References

• Gruber TA, Downing JR. The biology of pediatric acute megakaryoblastic leukemia. Blood. 2015;126(8):943–949. doi:10.1182/blood-2015-05-567859
   PubMed Web of Science ®Google Scholar
• Massey GV, Zipursky A, Chang MN, et al. A prospective study of the natural history of transient leukemia (TL) in neonates with down syndrome (DS): children’s oncology group (COG) study POG-9481. Blood. 2006;107(12):4606–4613. doi:10.1182/blood-2005-06-2448
   PubMed Web of Science ®Google Scholar
• Inaba H, Zhou Y, Abla O, et al. Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: a retrospective international study. Blood. 2015;126(13):1575–1584. doi:10.1182/blood-2015-02-629204
   PubMed Web of Science ®Google Scholar
• Gruber TA, Gedman AL, Zhang J, et al. 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):683–697. doi:10.1016/j.ccr.2012.10.007
   PubMed Web of Science ®Google Scholar
• Min X, Na Z, Yanan L, et al. De novo acute megakaryoblastic leukemia with p210 BCR/ABL and t(1;16) translocation but not t(9;22) Ph chromosome. J Hematol Oncol. 2011;4:45. 45, doi:10.1186/1756-8722-4-45
   PubMed Web of Science ®Google Scholar
• Modi M, Lahori M, Madabhavi I. First reported case of congenital ph’ positive (BCR/ABL rearrangement) acute megakaryoblastic leukemia (AMKL) and review of literature. Am J Clin Pathol. 2018;149(suppl_1): s 73–S74. doi:10.1093/ajcp/aqx121.172
   Google Scholar
• Andrews K, Meshinchi S, Marri P, et al. Pediatric acute myeloid leukemia with Co-Occurring BCR::ABL and CBFA2T3::GLIS2 dual fusion with deep response to FOLR1-Targeting antibody drug conjugate stro-002 and tyrosine kinase inhibitor. Blood. 2022;140(Supplement 1):11757–11758. doi:10.1182/blood-2022-164629
   Google Scholar
• Creutzig U, Zimmermann M, Bourquin JP, et al. Randomized trial comparing liposomal daunorubicin with idarubicin as induction for pediatric acute myeloid leukemia: results from study AML-BFM 2004. Blood. 2013;122(1):37–43. doi:10.1182/blood-2013-02-484097
   PubMed Web of Science ®Google Scholar
• Fleischhack G, Graf N, Hasan C, et al. IDA-FLAG (idarubicin, fludarabin, hochdosiertes cytarabin und G-CSF)-ein effektives therapieschema in der behandlung von AML-Rezidiven bei kindern und jugendlichen. Erste ergebnisse einer pilotstudie [IDA-FLAG (idarubicin, fludarabine, high dosage cytarabine and G-CSF)–an ­effective therapy regimen in treatment of recurrent acute myelocytic leukemia in children and adolescents. Initial results of a pilot study]. Klin Padiatr. 1996;208(04):229–235. doi:10.1046/j.1365-2141.1998.00836.x
   PubMedGoogle Scholar
• McGowan-Jordan J, Hastings RJ, Moore S (EDS.), ISCN 2020: an international system for human cytogenomic nomenclature. Basel: Karger, 2020. doi:10.1159/isbn.978-3-318-06867-2
   Google Scholar
• Foroni L, Wilson G, Gerrard G, et al. Guidelines for the measurement of BCR‐ABL1 transcripts in chronic myeloid leukaemia. Br J Haematol. 2011;153(2):179–190. doi:10.1111/j.1365-2141.2011.08603.x
   PubMed Web of Science ®Google Scholar
• Cross NCP, Hochhaus A, Müller MC. Molecular monitoring of chronic myeloid leukemia: principles and interlaboratory standardization. Ann Hematol. 2015;94 Suppl 2:S219–S225. doi:10.1007/s00277-015-2315-1
   PubMed Web of Science ®Google Scholar
• Rainis L, Bercovich D, Strehl S, et al. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood. 2003;102(3):981–986. doi:10.1182/blood-2002-11-3599
   PubMed Web of Science ®Google Scholar
• Mateos MK, Barbaric D, Byatt SA, et al. Down syndrome and leukemia: insights into leukemogenesis and translational targets. Transl Pediatr. 2015;4(2):76–92. doi:10.3978/j.issn.2224-4336.2015.03.03
   PubMed Web of Science ®Google Scholar
• Horak P, Griffith M, Danos AM, et al. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): joint recommendations of clinical genome resource (ClinGen), cancer genomics consortium (CGC), and variant interpretation for cancer consortium (VICC). Genet Med. 2022;24(5):986–998. doi:10.1016/j.gim.2022.01.001
   PubMed Web of Science ®Google Scholar
• Brodersen E, Alonzo TA, Menssen AJ, et al. 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. doi:10.1038/leu.2016.119
   PubMed Web of Science ®Google Scholar
• Masetti R, Bertuccio SN, Pession A, et al. CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity. Br J Haematol. 2019;184(3):337–347. doi:10.1111/bjh.15725
   PubMed Web of Science ®Google Scholar
• Hara Y, Shiba N, Ohki K, et al. Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome. Genes Chromosomes Cancer. 2017;56(5):394–404. doi:10.1002/gcc.22444
   PubMed Web of Science ®Google Scholar
• Hochhaus A, Baccarani M, Silver RT, et al. European LeukemiaNet 2020 recommendations for treating chronic myeloid leukemia. Leukemia. 2020;34(4):966–984. doi:10.1038/s41375-020-0776-2
   PubMed Web of Science ®Google Scholar
• Hou HA, Huang TC, Lin LI, et al. WT1 mutation in 470 adult patients with acute myeloid leukemia: stability during disease evolution and implication of its incorporation into a survival scoring system. Blood. 2010;115(25):5222–5231. doi:10.1182/blood-2009-12-259390
   PubMed Web of Science ®Google Scholar
• Le Q, Hadland B, Smith JL, et al. CBFA2T3-GLIS2 model of pediatric acute megakaryoblastic leukemia identifies FOLR1 as a CAR T cell target. J Clin Invest. 2022;132(22):e157101. doi:10.1172/JCI157101
   PubMed Web of Science ®Google Scholar