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8p11 myeloproliferative syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

8p11 Myeloproliferative Syndrome

8p11 myeloproliferative syndrome is a rare blood cancer driven by FGFR1 gene rearrangements that can involve both myeloid and lymphoid cell lineages.

Overview

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.

Frequency

The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition.

Causes & Risk Factors

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.

Genes and Chromosomes Associated

  • FGFR1
  • ZMYM2
  • chromosome 13
  • chromosome 8

Inheritance

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.

Other Names

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

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Myeloid neoplasm associated with FGFR1 rearrangement

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Catalog of Genes and Diseases from OMIM

  • CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME

Scientific Articles on PubMed

  • PubMed

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. doi: 10.1182/blood-2006-12-065615. Epub 2007 Mar 27.
  • 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.
  • 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.
  • 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. doi: 10.1038/ng0198-84.

Frequently Asked Questions

Confirmation requires cytogenetic analysis and molecular testing of bone marrow and peripheral blood. Conventional karyotyping detects chromosomal translocations involving the 8p11-12 locus. Fluorescence in situ hybridization (FISH) or next-generation sequencing RNA-fusion panels are used to detect FGFR1 gene rearrangements and identify the specific fusion partner gene, distinguishing this entity from other myeloproliferative neoplasms.
Conventional chemotherapy regimens rarely yield durable remissions on their own. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is considered the only potentially curative treatment option and should be planned early in the disease course. Targeted FGFR tyrosine kinase inhibitors (such as pemigatinib) may be utilized as a bridge to transplant to reduce blast counts, control hyperleukocytosis, and achieve remission.
The chromosomal translocations cause continuous, ligand-independent activation of the FGFR1 tyrosine kinase, driving abnormal proliferation in multipotent hematopoietic stem cells. Because these stem cells have the capacity to develop into both myeloid and lymphoid lineages, the disease inherently tends to rapidly transform into aggressive acute myeloid leukemia (AML), T-cell lymphoblastic lymphoma/leukemia (T-ALL), or mixed-phenotype acute leukemia, often within 12 to 24 months of diagnosis.
Clinicians should suspect this condition in patients presenting with marked peripheral blood eosinophilia accompanied by persistent unexplained leukocytosis, palpable lymphadenopathy, and splenomegaly. Patients often experience systemic B-symptoms such as severe night sweats, drenching fevers, unintended weight loss, and bone pain.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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