Related Experiment Video
Updated: Aug 2, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Translocation t(1;6)(p35.3;p25.2): a new recurrent aberration in "unmutated" B-CLL
L Michaux1, I Wlodarska, K Rack
1Center for Human Genetics, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium.
Leukemia
|October 29, 2004
Summary
A novel translocation t(1;6)(p35.3;p25.2) was identified in B-cell chronic lymphocytic leukemia (B-CLL) patients lacking IgV(H) mutations. This finding may impact B-CLL diagnosis and treatment strategies.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Reciprocal chromosomal translocations are uncommon in B-cell chronic lymphocytic leukemia (B-CLL).
- The genetic landscape of B-CLL is crucial for understanding disease pathogenesis and prognosis.
Purpose of the Study:
- To identify and characterize a novel chromosomal translocation in B-CLL patients.
- To investigate the clinical and genetic features associated with this translocation.
Main Methods:
- Karyotyping and fluorescence in situ hybridization (FISH) were used to identify and map the t(1;6)(p35.3;p25.2) translocation.
- Clinical, morphological, and immunologic data were collected from affected patients.
Main Results:
- The novel t(1;6)(p35.3;p25.2) translocation was identified in eight B-CLL patients, all lacking IgV(H) mutations.
- Patients often presented with advanced-stage disease and required therapy; three cases transformed into diffuse large B-cell lymphoma.
- FISH analysis mapped breakpoints to 1p35.3 and 6p25.2, with the latter near the MUM1/IRF4 gene.
Conclusions:
- The t(1;6)(p35.3;p25.2) translocation is a novel genetic abnormality found exclusively in unmutated B-CLL.
- This translocation, potentially involving MUM1/IRF4, may play a role in B-CLL development and progression.
Related Concept Videos
02:13Overview of Transposition and Recombination
Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
03:18Non-LTR Retrotransposons
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
02:23Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
02:07Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...