Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement | UniteRare Disease Library

Overview

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement, also known as 8p11 myeloproliferative syndrome (EMS) or stem cell leukemia/lymphoma syndrome, is a rare and aggressive hematologic malignancy caused by chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) gene located on chromosome 8p11-12. These rearrangements result in constitutive activation of the FGFR1 tyrosine kinase, driving uncontrolled proliferation of myeloid and/or lymphoid cells. Multiple fusion partner genes have been identified, including ZMYM2 (ZNF198), CNTRL (CEP110), BCR, FGFR1OP, and others, each resulting from different translocation events. The disease affects the hematopoietic (blood-forming) system and can present with diverse clinical features, including myeloproliferative neoplasm (often resembling chronic myelomonocytic leukemia or atypical chronic myeloid leukemia), T-lymphoblastic lymphoma, B-lymphoblastic lymphoma/leukemia, or acute myeloid leukemia. Patients frequently present with eosinophilia, lymphadenopathy, splenomegaly, and constitutional symptoms such as fatigue, weight loss, and night sweats. A hallmark of this condition is its tendency to rapidly progress to acute leukemia (blast crisis), often within one to two years of diagnosis. The prognosis is generally poor without definitive treatment. Conventional chemotherapy alone is usually insufficient for long-term disease control. Allogeneic hematopoietic stem cell transplantation (HSCT) remains the only potentially curative therapy and is recommended as early as possible. Targeted therapies, including FGFR inhibitors such as pemigatinib (which received FDA approval for related conditions), are being investigated and have shown promise in achieving remission, particularly as a bridge to transplant. The disease predominantly affects adults, though cases in adolescents have been reported.

Also known as:

8p11 myeloproliferative syndrome Stem cell leukemia/lymphoma

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

10 events

May 2026A Vaccine (CMV-MVA Triplex Vaccine) for the Enhancement of CMV-Specific Immunity and the Prevention of CMV Viremia in Patients Undergoing Haploidentical Hematopoietic Stem Cell Transplant

City of Hope Medical Center — PHASE1

TrialRECRUITING

Feb 2026Prophylactic and Therapeutic DLI-X for Leukemia Relapse After HCT

University of Arizona — PHASE1

TrialNOT YET RECRUITING

Sep 2025Co-infusion of Treg-enriched Donor Lymphocytes With CD3-depleted Hematopoietic Stem Cell Graft to Prevent Graft-versus Host Disease After Allogeneic Hematopoietic Stem Cell Transplantation Among Children With Hematologic Malignancies

Federal Research Institute of Pediatric Hematology, Oncology and Immunology — PHASE2, PHASE3

TrialRECRUITING

Aug 2025To Observe the CD7-targeted CAR-T Therapy in the Treatment of MRD Positive T-ALL/LBL Post Allo-HSCT

Peking University People's Hospital — PHASE1

TrialRECRUITING

Jul 2025A Platform Protocol to Investigate Post-Transplant Cyclophosphamide-Based Graft-Versus-Host Disease Prophylaxis in Patients With Hematologic Malignancies Undergoing Mismatched Unrelated Donor Peripheral Blood Stem Cell Transplantation

Center for International Blood and Marrow Transplant Research — PHASE2

TrialRECRUITING

May 2025Vaccination Against Human Papillomavirus (HPV) After Allogeneic Stem Cell Transplantation

Vastra Gotaland Region — PHASE2

TrialRECRUITING

May 2025Comparison of ATLG and ATG for Immune Reconstitution After Allo-HSCT for Hematologic Malignancy

Peking University First Hospital

TrialRECRUITING

Apr 2025Mosaic Trial for Stem Cell Transplant Recipients

Northwestern University — NA

TrialRECRUITING

Jan 2025Massage Impact on Sleep in Pediatric Oncology

Children's Hospital of Philadelphia — NA

TrialRECRUITING

Jan 2025Allo-HSCT vs ASCT in Adult T-LBL

Peking University People's Hospital — NA

TrialNOT YET RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement.

14 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

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Clinical Trials

14 recruitingView all trials with filters →

Phase 31 trial

Lactobacillus Plantarum in Preventing Acute Graft Versus Host Disease in Children Undergoing Donor Stem Cell Transplant

Phase 3

Active

PI: Michael L Nieder (Children's Oncology Group) · Sites: Birmingham, Alabama; Duarte, California +41 more · Age: 2–25 yrs

Phase 23 trials

HLA-Mismatched Unrelated Donor Hematopoietic Cell Transplantation With Post-Transplantation Cyclophosphamide

Phase 2

Active

PI: Steven Devine, MD (NMDP/Be The Match) · Sites: Duarte, California; San Francisco, California +37 more · Age: 1–99 yrs

A Platform Protocol to Investigate Post-Transplant Cyclophosphamide-Based Graft-Versus-Host Disease Prophylaxis in Patients With Hematologic Malignancies Undergoing Mismatched Unrelated Donor Peripheral Blood Stem Cell Transplantation

Phase 2

Actively Recruiting

· Sites: Birmingham, Alabama; Duarte, California +11 more · Age: 18–66 yrs

Busulfan, Etoposide, and Total-Body Irradiation in Treating Patients Undergoing Donor Stem Cell or Bone Marrow Transplant for Advanced Hematologic Cancer

Phase 2

Active

PI: Anthony S. Stein, MD (City of Hope Comprehensive Cancer Center) · Age: 16–50 yrs

Phase 13 trials

Alpha/Beta CD19+ Depleted Haploidentical Transplantation + Zometa for Pediatric Hematologic Malignancies and Solid Tumors

Phase 1

Actively Recruiting

PI: Christian Capitini, MD (University of Wisconsin, Madison) · Sites: Madison, Wisconsin · Age: 0–21 yrs

HA-1 T TCR T Cell Immunotherapy for the Treatment of Patients With Relapsed or Refractory Acute Leukemia After Donor Stem Cell Transplant

Phase 1

Actively Recruiting

PI: Elizabeth Krakow (Fred Hutch/University of Washington Cancer Consort) · Sites: Seattle, Washington · Age: 0–80 yrs

Precursor B Cell Acute Lymphoblastic Leukemia (B-ALL) Treated With Autologous T Cells Genetically Targeted to the B Cell Specific Antigen CD19

Phase 1

Active

PI: Jae Park, MD (Memorial Sloan Kettering Cancer Center) · Sites: New York, New York · Age: 18–99 yrs

N/A2 trials

Mosaic Trial for Stem Cell Transplant Recipients

N/A

Actively Recruiting

· Sites: Washington D.C., District of Columbia; Chicago, Illinois +1 more · Age: 18–99 yrs

Early Integration of Palliative and Supportive Care in Cellular Therapy

N/A

Actively Recruiting

PI: Reanne Booker, PhD(c) (AHS Calgary) · Sites: Calgary, Alberta · Age: 18–99 yrs

Other2 trials

Comparison of ATLG and ATG for Immune Reconstitution After Allo-HSCT for Hematologic Malignancy

Actively Recruiting

· Sites: Beijing · Age: 18–99 yrs

Post-authorization Safety Study of Allogeneic Hematopoietic Stem Cell Transplantation in Patients Treated With Mogamulizumab

Actively Recruiting

· Sites: Milwaukee, Wisconsin · Age: 18–99 yrs

Specialists

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A. John Barrett, M.D.

Specialist

Acute radiation syndrome Graft versus host disease

PI on 5 active trials

Overview

FDA & Trial Timeline

Treatments

Clinical Trials

Specialists

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