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myeloid neoplasm associated with FGFR1 rearrangement - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myeloid neoplasm associated with FGFR1 rearrangement

MONDO:0013296

Also known as:8p11 myeloproliferative syndrome8p11 stem cell leukemia/lymphoma syndrome8p11 stem cell syndrome

Overview

Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.

Newborn Screening27 states (2-Methylbutyryl-CoA Dehydrogenase Deficiency)

Diagnosis

Myeloid neoplasm associated with FGFR1 rearrangement is included in newborn screening programs (2-Methylbutyryl-CoA Dehydrogenase Deficiency) in 27 states.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for myeloid neoplasm associated with FGFR1 rearrangement.

15 publications have been identified in PubMed for myeloid neoplasm associated with FGFR1 rearrangement. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (20%), and Clinical Trial Publication (7%).

Research Type	Count	% of Total
Patient case studies	8	53%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613523

Orphanet

European rare disease database

Orphanet:168953

GARD

Genetic and Rare Diseases Info Center

GARD:17043

Questions for Your Care Team

→What follow-up testing and early intervention is recommended after a positive newborn screen?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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myeloid neoplasm associated with FGFR1 rearrangement

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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