Myelodysplastic Syndrome with del(5q) Clinical Trials 2026 — Find Recruiting Studies

About Myelodysplastic Syndrome with del(5q)

Myelodysplastic syndrome with isolated del(5q) is a distinct WHO-classified MDS subtype defined by macrocytic anemia with preserved or elevated platelet counts, hypolobulated megakaryocytes on bone marrow biopsy, and isolated deletion of chromosome 5q including the RPS14 gene locus, which causes ribosomal stress and impaired erythropoiesis. It predominantly affects older women and carries a relatively favorable prognosis among MDS subtypes, with lenalidomide (Revlimid) achieving cytogenetic remission in the majority of transfusion-dependent patients. Risk of transformation to acute myeloid leukemia, particularly with concurrent TP53 mutations, requires ongoing surveillance.

Common Clinical Features

Macrocytic anemia causing fatigue, pallor, and dyspnea Transfusion dependence in moderate to severe cases Thrombocytosis or normal platelet count (distinguishing from other MDS subtypes) Hypolobulated micromegakaryocytes on bone marrow examination Low or absent blasts on peripheral blood smear Splenomegaly in some patients Normal or near-normal white blood cell count Elevated mean corpuscular volume (MCV) with low reticulocyte count

Clinical Trial Eligibility Tips

What to know before applying to Myelodysplastic Syndrome with del(5q) trials.

Cytogenetic confirmation of isolated del(5q) by conventional karyotyping or FISH is required for enrollment; additional cytogenetic abnormalities (with exception of del(20q) and -Y) may affect eligibility.

TP53 mutation status by NGS panel is increasingly required at trial screening, as concurrent TP53 mutations confer higher AML transformation risk and may affect trial arms or stratification.

Transfusion dependence (defined as 2 or more RBC units in 8 weeks over 16 weeks prior to enrollment), lenalidomide exposure and response history, and IPSS-R risk score are key eligibility variables.