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Genetics Home Reference: your guide to understanding genetic conditions
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8p11 myeloproliferative syndrome

Reviewed July 2013

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.

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.

Related Chromosome(s)

Changes involving these chromosomes are associated with 8p11 myeloproliferative syndrome.

  • chromosome 8
  • chromosome 13

Related Gene(s)

Changes in these genes are associated with 8p11 myeloproliferative syndrome.

  • FGFR1
  • ZMYM2

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.

  • Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis (http://www.cancer.net/cancer-types/leukemia-acute-myeloid-aml/diagnosis)
  • Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options (http://www.cancer.net/cancer-types/leukemia-acute-myeloid-aml/treatment-options)
  • Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Diagnosis (http://www.cancer.net/cancer-types/lymphoma-non-hodgkin/diagnosis)
  • Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Treatment Options (http://www.cancer.net/cancer-types/lymphoma-non-hodgkin/treatment-options)
  • Genetic Testing Registry: Chromosome 8p11 myeloproliferative syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3150773)

You might also find information on the diagnosis or management of 8p11 myeloproliferative syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/8p11-myeloproliferative-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/8p11-myeloproliferative-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) 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.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for 8p11 myeloproliferative syndrome?

  • 8p11 stem cell leukemia/lymphoma syndrome
  • 8p11 stem cell syndrome
  • myeloid and lymphoid neoplasms with FGFR1 abnormalities
  • stem cell leukemia/lymphoma

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about 8p11 myeloproliferative syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding 8p11 myeloproliferative syndrome?

acute ; acute myeloid leukemia ; cancer ; cell ; chromosome ; eosinophils ; gene ; inherited ; 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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Dong S, Kang S, Gu TL, Kardar S, Fu H, Lonial S, Khoury HJ, Khuri F, Chen J. 14-3-3 Integrates prosurvival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1-transformed hematopoietic cells. Blood. 2007 Jul 1;110(1):360-9. Epub 2007 Mar 27. (http://www.ncbi.nlm.nih.gov/pubmed/17389761?dopt=Abstract)
  • Goradia A, Bayerl M, Cornfield D. The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. Int J Clin Exp Pathol. 2008 Jan 1;1(5):448-56. (http://www.ncbi.nlm.nih.gov/pubmed/18787627?dopt=Abstract)
  • Jackson CC, Medeiros LJ, Miranda RN. 8p11 myeloproliferative syndrome: a review. Hum Pathol. 2010 Apr;41(4):461-76. doi: 10.1016/j.humpath.2009.11.003. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20226962?dopt=Abstract)
  • Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA. FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet. 1998 Jan;18(1):84-7. (http://www.ncbi.nlm.nih.gov/pubmed/9425908?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2013
Published: November 24, 2014