What does 1q21 mean?
1q21. 1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21. 1.
What is 1q21 gain?
Abstract. Multiple myeloma (MM), a plasma cell neoplasm, is an incurable hematological malignancy characterized by complex genetic and prognostic heterogeneity. Gain or amplification of chromosome arm 1q21 (1q21+) is the most frequent adverse chromosomal aberration in MM, occurring in 40% of patients at diagnosis.
What is multi myeloma?
Multiple myeloma is a cancer that forms in a type of white blood cell called a plasma cell. Healthy plasma cells help you fight infections by making antibodies that recognize and attack germs. In multiple myeloma, cancerous plasma cells accumulate in the bone marrow and crowd out healthy blood cells.
How do Microdeletions occur?
Microdeletion syndromes involve chromosomal deletions that include several genes, but are too small to be detected by karyotype. They are usually de novo, and tend to recur in the same regions due to homologous recombination of flanking low-copy repeat gene clusters.
What does 1q gain mean?
A gain in chromosome 1q (+1q) was associated with several clinical characteristics among patients with multiple myeloma including high tumor burden and advanced disease stage, according to a new Mayo Clinic study. +1q is a common cytogenetic abnormality among patients with multiple myeloma.
What is difference between myeloma and multiple myeloma?
There is no difference. The terms are used interchangeably. Myeloma is derived from the Greek words “myel” (meaning marrow) and “oma” (meaning tumor). Because malignant plasma cells almost always occur in more than one location, it is often referred to as multiple myeloma.
How common is 1q21 microdeletion?
Frequency. 1q21. 1 microdeletion is a rare chromosomal change; only a few dozen individuals with this deletion have been reported in the medical literature.
When do Microdeletions happen?
A microdeletion is an abnormality that occurs when a piece of a chromosome is missing. In fact, it’s just what it sounds like: micro (tiny); deletion (taken away). You might remember from high school biology that virtually all of our cells contain chromosomes with DNA; we get 23 from each parent for a total of 46.
What are the most common Microdeletions?
The most common microdeletion syndromes are DiGeorge syndrome (22q11. 2), Prader-Willi syndrome, Angelman syndrome (15q11-13), Williams syndrome (7q11. 23), and Wolf-Hirschhorn syndrome (4p16. 3).
What is 1q21 microduplication?
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1. Some people with a 1q21.1 microduplication have developmental delay and intellectual disability
What is amplification of chromosome 1q?
Amplification of chromosome 1q (1q21 amp) is one of the most common secondary cytogenetic abnormalities in patients with MM. 1q21 amp is often associated with poor prognosis, drug resistance, and disease progression [17].
What is a cytogenetic amplification of 1q21?
The amplification of 1q21 is one of the most common cytogenetic abnormalities occurring in around 40% of de novopatients and 70% of relapsed/refractory MM. Patients with this unfavorable cytogenetic abnormality are considered to be high risk with a poor response to standard therapies.
What is bacterial translocation in microbiology?
Bacterial translocation (BT) is defined as translocation of bacteria and/or bacterial products (lipopolysaccharides [LPS], peptidoglycans, muramyl-dipeptides, and bacterial DNA) through the gut mucosa to normally sterile tissues such as the mesenteric lymph nodes and the internal organs.