Abstract
We describe the case of a boy with acute myeloid leukemia with translocation t(6;11)(p22.2;q23) and insertion ins(11;9)(q23;p21.3p21.3). Translocation t(6;11)(p22.2;q23) involving the short arm of chromosome 6 has not been previously described. The LDI-PCR showed the presence of KMT2A-MLLT3 fusion and identified the BTN3A1 (butyrophilin subfamily 3 member A1) gene on 6p22.2 as the other KMT2A translocation partner. The BTN3A1 gene has never been described in the context of acute leukemia. Although this fusion is out of frame, as the antisense strand of BTN3A1 is fused to the sense strand of KMT2A, the loss of heterozygosity of the BTN3A1 gene might contribute to the malignancy of leukemic cells.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Balgobind BV, Zwaan CM, Pieters R, Van den Heuvel-Eibrink MM (2011) The heterogeneity of pediatric MLL-rearranged acute myeloid leukemia. Leukemia 25:1239–1248
Meyer C, Hofmann J, Burmeister T, Gröger D, Park TS, Emerenciano M, Pombo de Oliveira M et al (2013) The MLL recombinome of acute leukemias in 2013. Leukemia 27:2165–2176
Schoch C, Schnittger S, Klaus M, Kern W, Hiddemann W, Haferlach T (2003) AML with 11q23/MLL abnormalities as defined by the WHO classification: incidence, partner chromosomes, FAB subtype, age distribution, and prognostic impact in an unselected series of 1897 cytogenetically analyzed AML cases. Blood 102:2395–2402
Creutzig U, Zimmermann M, Bourquin JP, Dworzak MN, Fleischhack G, von Neuhoff C, Sander A, Schrauder A, von Stackelberg A, Ritter J, Starý J, Reinhardt D (2011) CNS irradiation in pediatric acute myleoid leukemia: equal results by 12 or 18 Gy in studies AML-BFM98 and 2004. Pediatr Blood Cancer 57:986–992
Shaffer LG, Tommerup N (eds) (2005) ISCN: an international system for human cytogenetic nomenclature. S. Karger, Basel
Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, Pieters R, Haas OA, Dingermann T, Klingebiel T, Marschalek R (2005) Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. Proc Natl Acad Sci U S A 102:449–454
Hagemeijer A, Hählen K, Sizoo W, Abeis J (1982) Translocation (9:11)(p21;q23) in three cases of acute monoblastic leukemia. Cancer Genet Cytogenet 5:95–105
Conflicts of Interest
The authors declare no conflicts of interest in relation to this article.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer International Publishing AG
About this chapter
Cite this chapter
Malinowska, I. et al. (2017). A Case of Acute Myeloid Leukemia with Novel Translocation t(6;11)(p22.2;q23) and Concurrent Insertion ins(11;9)(q23;p21.3p21.3). In: Pokorski, M. (eds) Pulmonary Care and Clinical Medicine. Advances in Experimental Medicine and Biology(), vol 1021. Springer, Cham. https://doi.org/10.1007/5584_2017_86
Download citation
DOI: https://doi.org/10.1007/5584_2017_86
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-65468-3
Online ISBN: 978-3-319-65469-0
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)