PMID- 33813379 OWN - NLM STAT- MEDLINE DCOM- 20210413 LR - 20210413 IS - 1791-7530 (Electronic) IS - 0250-7005 (Linking) VI - 41 IP - 4 DP - 2021 Apr TI - Therapy-related Myeloid Leukemia With the Translocation t(8;19)(p11;q13) Leading to a KAT6A-LEUTX Fusion Gene. PG - 1753-1760 LID - 10.21873/anticanres.14940 [doi] AB - BACKGROUND/AIM: The chromosome translocation t(8;19)(p11;q13) has been reported in only six acute myeloid leukemia (AML) patients. We here present the genetic and clinical features of the seventh AML case with this aberration. MATERIALS AND METHODS: Cytogenetic and molecular genetic investigations were performed on leukemic bone marrow cells from a patient with therapy-related AML. RESULTS: A t(8;19)(p11;q13) was found leading to an in-frame fusion of exon 16 of the lysine acetyltransferase 6A gene (KAT6A) from 8p11 with exon 2 of the leucine twenty homeobox gene (LEUTX) from 19q13 resulting in expression of the otherwise silent LEUTX gene in the leukemic cells. The KAT6A-LEUTX protein is predicted to act as a histone acetyltransferase at its amino-terminal-KAT6A moiety but as a homeobox transcription factor at the LEUTX-carboxyl-terminal moiety. CONCLUSION: The present case is the second therapy-related AML, and the third AML overall, in which both a t(8;19)(p11;q13) and its molecular result, a KAT6A-LEUTX fusion gene, are described. The t(8;19)(p11;q13)/KAT6A-LEUTX deregulates transcription and induces leukemogenesis. FAU - Panagopoulos, Ioannis AU - Panagopoulos I AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; ioannis.panagopoulos@rr-research.no. FAU - Andersen, Kristin AU - Andersen K AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. FAU - Ramslien, Lloyd Frode AU - Ramslien LF AD - Department of Cancer and Hematological Diseases, Telemark Hospital, Skien, Norway. FAU - Ikonomou, Ida Munster AU - Ikonomou IM AD - Department of Pathology, Oslo University Hospital, Oslo, Norway. FAU - Micci, Francesca AU - Micci F AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. FAU - Heim, Sverre AU - Heim S AD - Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. AD - Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway. LA - eng PT - Case Reports PL - Greece TA - Anticancer Res JT - Anticancer research JID - 8102988 RN - 0 (Biomarkers, Tumor) RN - 0 (Homeodomain Proteins) RN - 0 (LEUTX protein, human) RN - EC 2.3.1.48 (Histone Acetyltransferases) RN - EC 2.3.1.48 (KAT6A protein, human) SB - IM MH - Aged MH - Biomarkers, Tumor/*genetics MH - Chemoradiotherapy/*adverse effects MH - *Chromosomes, Human, Pair 19 MH - *Chromosomes, Human, Pair 8 MH - Female MH - Gene Expression Regulation, Leukemic MH - *Gene Fusion MH - Histone Acetyltransferases/*genetics MH - Homeodomain Proteins/*genetics MH - Humans MH - Leukemia, Myeloid, Acute/diagnosis/drug therapy/*etiology/genetics MH - *Translocation, Genetic MH - Treatment Outcome MH - Uterine Cervical Neoplasms/therapy OTO - NOTNLM OT - Acute myeloid leukemia OT - KAT6A OT - KAT6A-LEUTX OT - LEUTX OT - chromosome translocation OT - fusion gene OT - histone acetyltransferase OT - homeobox gene OT - t(8;19)(p11;q13) EDAT- 2021/04/05 06:00 MHDA- 2021/04/14 06:00 CRDT- 2021/04/04 20:59 PHST- 2021/02/03 00:00 [received] PHST- 2021/02/22 00:00 [revised] PHST- 2021/02/23 00:00 [accepted] PHST- 2021/04/04 20:59 [entrez] PHST- 2021/04/05 06:00 [pubmed] PHST- 2021/04/14 06:00 [medline] AID - 41/4/1753 [pii] AID - 10.21873/anticanres.14940 [doi] PST - ppublish SO - Anticancer Res. 2021 Apr;41(4):1753-1760. doi: 10.21873/anticanres.14940.