5q- syndrome
Alternate names[edit | edit source]
5q deletion syndrome; Refractory macrocytic anemia due to 5q deletion; MAR; 5q syndrome; 5q minus syndrome
Definition[edit | edit source]
5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells.
Summary [edit | edit source]
- In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia).
- In addition, the red blood cells that are present are unusually large (macrocytic).
- Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cells involved in blood clotting.
- A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes.
- In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets.
- MDS is considered a slow-growing (chronic) blood cancer.
- It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML).
- Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.
Epidemiology[edit | edit source]
MDS affects nearly 1 in 20,000 people in the United States. It is thought that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of MDS, which occur more frequently in men than women, 5q- syndrome is more than twice as common in women.
Cause[edit | edit source]
- 5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5.
- Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies.
- This deletion occurs in immature blood cells during a person's lifetime and affects one of the two copies of chromosome 5 in each cell.
- The commonly deleted region of DNA contains 40 genes, many of which play a critical role in normal blood cell development.
- Research suggests that loss of multiple genes in this region contributes to the features of 5q- syndrome.
- Loss of the RPS14 gene leads to the problems with red blood cell development characteristic of 5q- syndrome, and loss of MIR145 or MIR146A contributes to the megakaryocyte and platelet abnormalities and may promote the overgrowth of immature cells.
- Scientists are still determining how the loss of other genes in the deleted region might be involved in the features of 5q- syndrome.
Inheritance[edit | edit source]
This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. Affected people typically have no history of the disorder in their family.
Symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
30%-79% of people have these symptoms
- Bone marrow hypercellularity
- Erythroid hypoplasia
- Increased lactate dehydrogenase level
- Macrocytic anemia
- Megakaryocyte nucleus hypolobulation
- Thrombocytosis(Increased number of platelets in blood)
5%-29% of people have these symptoms
- Abnormal bleeding(Bleeding tendency)
- Abnormality of bone marrow stromal cells
- Abnormality of neutrophil morphology
- Acute myeloid leukemia
- Anisocytosis(Unequal size of red blood cells)
- Bone marrow hypocellularity(Bone marrow failure)
- Chronic infection
- Leukopenia(Decreased blood leukocyte number)
- Multiple lineage myelodysplasia
Diagnosis[edit | edit source]
Clinical tests
- Cytogenetics Tests
- Fluorescence in situ hybridization (FISH)
- Molecular Genetics Tests
- Deletion/duplication analysis
above test are used for diagnosis
Treatment[edit | edit source]
- Lenalidomide has activity in 5q- syndrome and is FDA approved for red blood cell (RBC) transfusion-dependent anemia due to low or intermediate-1 (int-1) risk myelodysplastic syndrome (MDS) associated with chromosome 5q deletion with or without additional cytogenetic abnormalities.
- There are several possible mechanisms that link the haploinsufficiency molecular lesions with lenalidomide sensitivity.
Prognosis[edit | edit source]
Most affected people have a stable clinical course but are often transfusion dependent.
NIH genetic and rare disease info[edit source]
5q- syndrome is a rare disease.
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