Surreal image of intertwined chromosomes representing the t(5;12)(q31;p13) translocation in leukemia.

Decoding t(5;12)(q31;p13): What Does This Rare Genetic Translocation Mean for Leukemia?

Beau Callahan in Health & Wellness December 2025 • 4 min read.

"Exploring the role of the t(5;12)(q31;p13) translocation in myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and acute eosinophilic leukemia (AEL)."

In the realm of cancer genetics, specific chromosomal abnormalities can provide critical insights into the development and progression of the disease. One such abnormality, the t(5;12)(q31;p13) translocation, involves the swapping of genetic material between chromosomes 5 and 12. This rare event has been linked to certain types of blood cancers, including myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and acute eosinophilic leukemia (AEL).

This article delves into the intricacies of the t(5;12)(q31;p13) translocation, exploring its genetic underpinnings, associated clinical features, and potential implications for diagnosis and treatment. Understanding this translocation can provide valuable insights into the complex landscape of leukemia and related disorders.

Originally published in the Atlas of Genetics and Cytogenetics in Oncology and Haematology in March 2007, this review compiles the existing knowledge surrounding this specific genetic anomaly. While medical research has progressed since then, the foundational information remains relevant for understanding the role of t(5;12)(q31;p13) in specific leukemias.

Unpacking the Basics: What is t(5;12)(q31;p13)?

Surreal image of intertwined chromosomes representing the t(5;12)(q31;p13) translocation in leukemia.

The t(5;12)(q31;p13) designation describes a translocation, a type of chromosomal abnormality where parts of two chromosomes break off and reattach to each other. In this specific case, the translocation occurs between chromosome 5 and chromosome 12. The (q31) and (p13) refer to the specific locations on these chromosomes where the breaks occur: q31 is a region on the long arm (q) of chromosome 5, and p13 is a region on the short arm (p) of chromosome 12.

This translocation is significant because it can disrupt the normal function of genes located at or near the breakpoints. In the case of t(5;12)(q31;p13), two genes are particularly affected:

ETV6 (ETS Variant Gene 6): Located on chromosome 12 at position 12p13, ETV6 is a transcription factor involved in regulating the development of blood cells. It is known to participate in many chromosomal rearrangements associated with leukemia and congenital fibrosarcoma.
ACSL6 (Acyl-CoA Synthetase Long-chain Family Member 6): Located on chromosome 5 at position 5q31, ACSL6 plays a crucial role in fatty acid metabolism, particularly in the brain and red blood cells.

When the t(5;12)(q31;p13) translocation occurs, the ETV6 and ACSL6 genes can fuse together, creating a hybrid gene. This fusion can lead to the production of an abnormal protein that interferes with normal cellular processes and contributes to the development of leukemia.

The Future of Research on t(5;12)(q31;p13)

While the original research provides a solid foundation, continued investigation into the t(5;12)(q31;p13) translocation is essential. Future studies should focus on: identifying new therapeutic targets based on the ETV6/ACSL6 fusion protein, developing more sensitive diagnostic tools to detect the translocation early on, and conducting clinical trials to evaluate the effectiveness of targeted therapies in patients with t(5;12)(q31;p13)-positive leukemias. Ultimately, a deeper understanding of this rare genetic event will pave the way for more personalized and effective treatments for patients with these challenging blood cancers.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.4267/2042/38454, Alternate LINK

Title: T(5;12)(Q31;P13) In Mds, Aml And Ael

Subject: Cancer Research

Journal: Atlas of Genetics and Cytogenetics in Oncology and Haematology

Publisher: INIST-CNRS

Authors: Md Odero

Published: 2011-02-01

Everything You Need To Know

What exactly is the t(5;12)(q31;p13) translocation?

The designation t(5;12)(q31;p13) refers to a translocation, which is a type of chromosomal abnormality. Specifically, it indicates that a portion of chromosome 5 has broken off and reattached to chromosome 12, and vice versa. The (q31) and (p13) specify the precise locations of these breaks on the chromosomes; q31 is a region on the long arm of chromosome 5, while p13 is a region on the short arm of chromosome 12. This is significant because the breaks can disrupt genes located near these points.

Why is the t(5;12)(q31;p13) translocation important in the context of leukemia?

The t(5;12)(q31;p13) translocation is important because it can lead to the fusion of two genes: ETV6, located on chromosome 12, and ACSL6, located on chromosome 5. The ETV6 gene is a transcription factor crucial for the development of blood cells. The ACSL6 gene plays a role in fatty acid metabolism, especially in the brain and red blood cells. When these genes fuse, they create an abnormal protein that can interfere with normal cellular processes and contribute to the development of leukemia.

What happens when the ETV6 and ACSL6 genes fuse together because of the t(5;12)(q31;p13) translocation?

The fusion of the ETV6 and ACSL6 genes, resulting from the t(5;12)(q31;p13) translocation, can lead to the production of a hybrid protein. This abnormal protein can disrupt normal cell function. This disruption is a contributing factor to the development of blood cancers such as myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and acute eosinophilic leukemia (AEL).

What future research is planned regarding the t(5;12)(q31;p13) translocation?

Current research is focused on identifying therapeutic targets based on the ETV6/ACSL6 fusion protein to create targeted therapies. There is also work being done to develop more sensitive diagnostic tools to detect the t(5;12)(q31;p13) translocation earlier in the disease process. Clinical trials are needed to evaluate the effectiveness of these therapies specifically in patients with t(5;12)(q31;p13)-positive leukemias. This aims to facilitate more personalized and effective treatments for these challenging blood cancers.

What kind of diseases are associated with the t(5;12)(q31;p13) translocation?

The t(5;12)(q31;p13) translocation has been linked to the development of specific types of blood cancers, including myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and acute eosinophilic leukemia (AEL). While this translocation doesn't guarantee the development of these conditions, its presence can increase the risk. It's a significant factor to consider in diagnosing and understanding the progression of these diseases.