Therapy-related Myeloid Leukemia With the Translocation t(8;19)(p11;q13) Leading to a KAT6A-LEUTX Fusion Gene.

Abstract

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.

• Authors: Ioannis Panagopoulos, Kristin Andersen, Lloyd Frode Ramslien, Ida Münster Ikonomou, Francesca Micci, Sverre Heim
• Journal: Anticancer research (Anticancer Res) Vol. 41 Issue 4 Pg. 1753-1760 (Apr 2021) ISSN: 1791-7530 [Electronic] Greece
• PMID: 33813379 (Publication Type: Case Reports)

Chemical References

• Biomarkers, Tumor
• Homeodomain Proteins
• LEUTX protein, human
• Histone Acetyltransferases
• KAT6A protein, human

Topics

• Aged
• Biomarkers, Tumor (genetics)
• Chemoradiotherapy (adverse effects)
• Chromosomes, Human, Pair 19
• Chromosomes, Human, Pair 8
• Female
• Gene Expression Regulation, Leukemic
• Gene Fusion
• Histone Acetyltransferases (genetics)
• Homeodomain Proteins (genetics)
• Humans
• Leukemia, Myeloid, Acute (diagnosis, drug therapy, etiology, genetics)
• Translocation, Genetic
• Treatment Outcome
• Uterine Cervical Neoplasms (therapy)