Cryptic genomic lesions in adverse-risk acute myeloid leukemia identified by integrated whole genome and transcriptome sequencing

Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–405.

Speicher MR, Carter NP. The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet. 2005;6:782–92.

Haferlach C, Dicker F, Herholz H, Schnittger S, Kern W, Haferlach T. Mutations of the TP53 gene in acute myeloid leukemia are strongly associated with a complex aberrant karyotype. Leukemia. 2008;22:1539–41.

Welch JS, Westervelt P, Ding L, Larson DE, Klco JM, Kulkarni S, et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. J Am Med Assoc. 2011;305:1577–84.

King RL, Naghashpour M, Watt CD, Morrissette JJD, Bagg A. A comparative analysis of molecular genetic and conventional cytogenetic detection of diagnostically important translocations in more than 400 cases of acute leukemia, highlighting the frequency of false-negative conventional cytogenetics. Am J Clin Pathol. 2011;135:921–8.

Struski S, Lagarde S, Bories P, Puiseux C, Prade N, Cuccuini W, et al. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis. Leukemia. 2017;31:565–72.

Voutsadakis IA, Maillard N. Acute myelogenous leukemia with the t(3;12)(q26; p13) translocation: case report and review of the literature. Am J Hematol. 2003;72:135–7.

Savage NM, Kota V, Manaloor EJ, Kulharya AS, Pierini V, Mecucci C, et al. Acute leukemia with PICALM–MLLT10 fusion gene: diagnostic and treatment struggle. Cancer Genet Cytogenet. 2010;202:129–32.

Gough SM, Slape CI, Aplan PD. NUP98 gene fusions and hematopoietic malignancies: common themes and new biologic insights. Blood. 2011;118:6247–57.

Yasuda T, Tsuzuki S, Kawazu M, Hayakawa F, Kojima S, Ueno T, et al. Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults. Nat Genet. 2016;48:569–74.

Roussy M, Bilodeau M, Jouan L, Tibout P, Laramée L, Lemyre E, et al. NUP98-BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy. Genes Chromosomes Cancer. 2018. https://doi.org/10.1002/gcc.22532 .

Wysocka J, Swigut T, Xiao H, Milne TA, Kwon SY, Landry J, et al. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. Nature. 2006. https://doi.org/10.1038/nature04815 .

Andreeff M, Ruvolo V, Gadgil S, Zeng C, Coombes K, Chen W, et al. HOX expression patterns identify a common signature for favorable AML. Leukemia. 2008;22:2041–7.

Wang GG, Song J, Wang Z, Dormann HL, Casadio F, Li H, et al. Haematopoietic malignancies caused by dysregulation of a chromatin-binding PHD finger. Nature. 2009;459:847–51.

Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003;348:1201–14.