Abstract illustration of chromosomes 8 and 17 intertwining, symbolizing the t(8;17) translocation in leukemia.

Decoding Leukemia: Understanding t(8;17) Translocation and Its Implications

Samir D’Costa in Health & Wellness June 2025 • 4 min read.

"Explore the complexities of the t(8;17)(p12;q25) chromosomal translocation in leukemia, its clinical significance, and potential therapeutic avenues."

Leukemia, a cancer of the blood and bone marrow, manifests in various forms, each with distinct genetic and molecular characteristics. Among these, chromosomal translocations—where parts of chromosomes break and reattach to other chromosomes—play a significant role in disease development and progression. The t(8;17)(p12;q25) translocation is one such genetic anomaly, although relatively rare, found in specific types of leukemia.

This particular translocation involves the exchange of genetic material between chromosome 8 and chromosome 17 at specific locations denoted as p12 (on the short arm of chromosome 8) and q25 (on the long arm of chromosome 17). Understanding the mechanisms and consequences of this translocation is crucial for refining diagnostic approaches and exploring targeted treatment strategies for affected individuals.

The following article provides an overview of the t(8;17) translocation, its association with Fibroblast Growth Factor Receptor 1 (FGFR1), clinical presentations, and implications for patients diagnosed with this rare subtype of leukemia.

What is t(8;17)(p12;q25) Translocation?

Abstract illustration of chromosomes 8 and 17 intertwining, symbolizing the t(8;17) translocation in leukemia.

Chromosomal translocations occur when chromosomes break and the fragments reattach in an abnormal configuration. In the case of t(8;17)(p12;q25), a piece of chromosome 8 and a piece of chromosome 17 switch places. The notation 't' indicates a translocation, while '(8;17)' specifies the chromosomes involved. '(p12)' refers to the location on the short arm (p) of chromosome 8, and '(q25)' indicates the location on the long arm (q) of chromosome 17.

This translocation is significant because it often involves the Fibroblast Growth Factor Receptor 1 (FGFR1) gene, located at 8p12. FGFR1 is a receptor tyrosine kinase that plays a critical role in cell growth, differentiation, and angiogenesis (the formation of new blood vessels). When this gene is disrupted or inappropriately activated due to the translocation, it can lead to uncontrolled cell proliferation and the development of leukemia.

Gene Disruption: The translocation can disrupt the normal function of genes at the breakpoints, especially FGFR1.
Uncontrolled Proliferation: Dysregulation of FGFR1 leads to excessive cell growth and division.
Leukemia Development: The abnormal proliferation of cells contributes to the onset and progression of leukemia.

The t(8;17) translocation is relatively rare, and it's often associated with specific types of hematological malignancies, including myeloproliferative neoplasms and, in some cases, acute leukemias. Understanding the clinical context and specific features of the translocation is essential for accurate diagnosis and tailored treatment.

Future Directions and Research

Continued research into the t(8;17) translocation and its effects on FGFR1 signaling pathways is essential for developing more effective, targeted therapies. Clinical trials and studies focusing on patients with this specific translocation can provide valuable insights into optimal treatment strategies and long-term outcomes. As genetic sequencing and diagnostic technologies advance, a more comprehensive understanding of the molecular landscape in these leukemias will pave the way for personalized medicine approaches, improving patient outcomes and quality of life.

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: 10.4267/2042/44541, Alternate LINK

Title: T(8;17)(P12;Q25)

Subject: Cancer Research

Journal: Atlas of Genetics and Cytogenetics in Oncology and Haematology

Publisher: INIST-CNRS

Authors: Jl Huret

Published: 2011-11-01

Everything You Need To Know

What is the t(8;17)(p12;q25) translocation, and how does it relate to leukemia?

The t(8;17)(p12;q25) translocation is a genetic anomaly where parts of chromosome 8 and chromosome 17 switch places. Specifically, a piece from the short arm (p12) of chromosome 8 exchanges with a piece from the long arm (q25) of chromosome 17. This translocation is linked to leukemia because it often involves the Fibroblast Growth Factor Receptor 1 (FGFR1) gene, located at 8p12. This disruption can lead to uncontrolled cell proliferation and, consequently, leukemia development.

What is the role of FGFR1 in the context of the t(8;17) translocation?

FGFR1, a receptor tyrosine kinase, is critically involved in cell growth, differentiation, and angiogenesis. In the t(8;17) translocation, FGFR1 can be disrupted or inappropriately activated. This dysregulation of FGFR1 leads to excessive cell growth and division, a hallmark of leukemia. The translocation can cause the FGFR1 gene to become dysregulated, leading to uncontrolled cell proliferation that contributes to the onset and progression of leukemia.

What are the clinical implications of the t(8;17) translocation in leukemia?

The t(8;17) translocation is associated with specific types of hematological malignancies, including myeloproliferative neoplasms and, in some cases, acute leukemias. Understanding the clinical context and the specific features of the translocation is essential for accurate diagnosis. This knowledge helps guide treatment strategies tailored to the individual patient, potentially improving outcomes and quality of life. The presence of this translocation influences disease presentation and treatment approaches.

How does the t(8;17) translocation lead to leukemia development, specifically?

The t(8;17) translocation initiates leukemia development through several mechanisms. Firstly, the translocation can disrupt the normal function of genes at the breakpoints, particularly FGFR1. Secondly, this disruption can lead to uncontrolled cell proliferation as FGFR1 becomes dysregulated, causing excessive cell growth and division. Ultimately, the abnormal proliferation of cells due to the translocation contributes to the onset and progression of leukemia. The precise effects depend on the specific genes involved and the cellular context.

What are the future directions in research and treatment for leukemia patients with the t(8;17) translocation?

Future research directions include continued investigation into the t(8;17) translocation and its effects on FGFR1 signaling pathways to develop more effective, targeted therapies. Clinical trials focusing on patients with this specific translocation are crucial for understanding optimal treatment strategies and long-term outcomes. As genetic sequencing and diagnostic technologies advance, a more comprehensive understanding of the molecular landscape in these leukemias will pave the way for personalized medicine approaches, improving patient outcomes and quality of life.