Chromosomal aberrations play a role in the leukemogenesis of acute myeloid leukemia. Some chromosomal abnormalities such as t(8;21), t(15;17), and inv(16) are frequently observed, but hundreds of uncommon chromosomal translocations also exist and their significance remains to be clarified [1]. Here we introduce a case of acute myeloid leukemia with a very rare translocation and explain its morp...

As an important subtype of structural variations, chromosomal translocation is associated with various diseases, especially cancers, by disrupting gene structures and functions. Traditional methods for identifying translocations are time consuming and have limited resolutions. Recently, a few studies have employed next-generation sequencing (NGS) technology for characterizing chromosomal transl...

Most patients with chronic myelogenous leukemia (CML) show a Philadelphia (Ph) chromosome with a characteristic translocation between chromosomes 9 and 22. However, there are variant complex translocations involving other chromosomes in addition to the standard translocation. We describe a case of CML showing a complex and novel chromosomal translocation involving five chromosomes, t(4;12;7;9;22).

Chromosomal abnormalities that affect either entire chromosomes or large chromosomal regions covering multiple genes are capable of profoundly affecting human health, as in the case of Down syndrome (caused by trisomy 21) and Burkitt’s lymphoma (caused by a chromosomal translocation). Therefore, these types of defects must be included in our analysis of possible genetic causes of multiple scler...

INTRODUCTION B cell lymphomas represent 95% of all lymphomas diagnosed in the Western world and the majority of these arise from germinal center (GC) B cells (1). Recurrent chromosomal translocations involving Ig loci and proto-oncogenes are a hallmark of many types of B cell lymphoma (2). Three types of breakpoints can be identified in Ig loci. Translocation breakpoints adjacent to the DH or J...

Chromosomal translocations are a hallmark of cancer. Unraveling the molecular mechanism of these rare genetic events requires a clear distinction between correlative and causative risk-determinants, where technical and analytical issues can be excluded. To meet this goal, we performed in-depth analyses of publicly available genome-wide datasets. In contrast to several recent reports, we demonst...

INTRODUCTION Robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. In this report, we present a nonhomologous Robertsonian translocation in a female patient with a history of repeated abortions. CASE PRESENTATION A couple with the complaint of repeated abortions was admitted in the...

background: the human aml1 gene, located on chromosome 21, can be fused to the aml1- eight-twenty-one (eto) oncoprotein on chromosome eight, resulting in a t(8;21)(q22;q22) translocation. acute myeloid leukemia (aml) associated with this translocation is considered a distinct aml with a favorable prognosis. due to the various incidences of the translocation, which is associated with geographic ...

The specific chromosomal translocation t(X;1)(p11.2;q21.2) has been observed in human papillary renal cell carcinomas. In this study we demonstrated that this translocation results in the fusion of a novel gene designated PRCC at 1q21.2 to the TFE3 gene at Xp11.2. TFE3 encodes a member of the basic helix-loop-helix (bHLH) family of transcription factors originally identified by its ability to b...

A key feature of Hodgkin lymphoma is that the malignant cells are binucleated, as a consequence of failed cytokinesis. We recently ascertained a family in which multiple cases of Hodgkin lymphoma had occurred among individuals who inherited a balanced chromosomal translocation. We cloned the translocation breakpoints and found that it disrupted a previously uncharacterized gene, KLHDC8B, encodi...