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8p11 myeloproliferative syndrome
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What is 8p11 myeloproliferative syndrome?
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer.
The condition can occur at any age. It usually begins as a myeloproliferative disorder, which is characterized by a high number of white blood cells (leukocytes). Most affected individuals also have an excess of myeloid cells known as eosinophils (eosinophilia).
In addition to a myeloproliferative disorder, many people with 8p11 myeloproliferative syndrome develop lymphoma, which is a form of blood cancer that involves lymphoid cells. The cancerous lymphoid cells grow and divide in lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. Lymphoma can develop at the same time as the myeloproliferative disorder or later.
In most people with 8p11 myeloproliferative syndrome, the myeloproliferative disorder develops into a fast-growing blood cancer called acute myeloid leukemia.
The rapid myeloid and lymphoid cell production caused by these cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. Some affected individuals have no symptoms, and the condition is discovered through routine blood tests.
The condition can occur at any age. It usually begins as a myeloproliferative disorder, which is characterized by a high number of white blood cells (leukocytes). Most affected individuals also have an excess of myeloid cells known as eosinophils (eosinophilia).
In addition to a myeloproliferative disorder, many people with 8p11 myeloproliferative syndrome develop lymphoma, which is a form of blood cancer that involves lymphoid cells. The cancerous lymphoid cells grow and divide in lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. Lymphoma can develop at the same time as the myeloproliferative disorder or later.
In most people with 8p11 myeloproliferative syndrome, the myeloproliferative disorder develops into a fast-growing blood cancer called acute myeloid leukemia.
The rapid myeloid and lymphoid cell production caused by these cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. Some affected individuals have no symptoms, and the condition is discovered through routine blood tests.
How common is 8p11 myeloproliferative syndrome?
The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition.
What are the genetic changes related to 8p11 myeloproliferative syndrome?
8p11 myeloproliferative syndrome is caused by rearrangements of genetic material (translocations) between two chromosomes. All of the translocations that cause this condition involve the FGFR1 gene, which is found on the short (p) arm of chromosome 8 at a position described as p11. The translocations lead to fusion of part of the FGFR1 gene with part of another gene; the most common partner gene is ZMYM2 on chromosome 13. These genetic changes are found only in cancer cells.
The protein normally produced from the FGFR1 gene can trigger a cascade of chemical reactions that instruct the cell to undergo certain changes, such as growing and dividing. This signaling is turned on when the FGFR1 protein interacts with growth factors. In contrast, when the FGFR1 gene is fused with another gene, FGFR1 signaling is turned on without the need for stimulation by growth factors. The uncontrolled signaling promotes continuous cell growth and division, leading to cancer.
Researchers believe the mutations that cause this condition occur in a very early blood cell called a stem cell that has the ability to mature into either a myeloid cell or a lymphoid cell. For this reason, this condition is sometimes referred to as stem cell leukemia/lymphoma.
Read more about the FGFR1 and ZMYM2 genes, chromosome 8, and chromosome 13.
The protein normally produced from the FGFR1 gene can trigger a cascade of chemical reactions that instruct the cell to undergo certain changes, such as growing and dividing. This signaling is turned on when the FGFR1 protein interacts with growth factors. In contrast, when the FGFR1 gene is fused with another gene, FGFR1 signaling is turned on without the need for stimulation by growth factors. The uncontrolled signaling promotes continuous cell growth and division, leading to cancer.
Researchers believe the mutations that cause this condition occur in a very early blood cell called a stem cell that has the ability to mature into either a myeloid cell or a lymphoid cell. For this reason, this condition is sometimes referred to as stem cell leukemia/lymphoma.
Read more about the FGFR1 and ZMYM2 genes, chromosome 8, and chromosome 13.
Can 8p11 myeloproliferative syndrome be inherited?
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.
Where can I find information about diagnosis or management of 8p11 myeloproliferative syndrome?
These resources address the diagnosis or management of 8p11 myeloproliferative syndrome and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
- Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia
Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment
Options - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma
Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Treatment
Options - Genetic Testing Registry: Chromosome 8p11 myeloproliferative
syndrome
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about 8p11 myeloproliferative syndrome?
You may find the following resources about 8p11 myeloproliferative syndrome helpful. These materials are written for the general public.
- MedlinePlus - Health information (4 links)
- Additional NIH Resources - National Institutes of Health
- Educational resources - Information pages (5 links)
- Patient support - For patients and families (2 links)
- Genetic Testing Registry - Repository of genetic test information (1 link)
PubMed - Recent literatureOMIM - Genetic disorder catalog
What other names do people use for 8p11 myeloproliferative syndrome?
- myeloid and lymphoid neoplasms with FGFR1 abnormalities
- 8p11 stem cell leukemia/lymphoma syndrome
- 8p11 stem cell syndrome
- stem cell leukemia/lymphoma
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about 8p11 myeloproliferative syndrome?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
- What does it mean if a disorder seems to run in my family?
- What is a chromosome?
- Can changes in the number of chromosomes affect health and development?
- Are chromosomal disorders inherited?
What glossary definitions help with understanding 8p11 myeloproliferative syndrome?
acute ; acute myeloid leukemia ; cancer ; cell ; chromosome ; eosinophils ; gene ; leukemia ; lymph ; lymphoid ; lymphoma ; mutation ; myeloid ; neoplasms ; prevalence ; protein ; somatic mutation ; splenomegaly ; syndrome ; tumor ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.
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