{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(3)"],"submitter":["Schneeweiss-Gleixner M"],"pubmed_abstract":["Although iron overload is a clinical challenge, little is known about the clinical impact of <i>HFE</i>-variants in myelodysplastic syndromes (MDS) to date. We analyzed the <i>HFE</i> status in 167 MDS patients and 494 healthy controls. One or more of the 3 <i>HFE</i>-variants (H63D, C282Y, S65C) were found in 65/167 (38.9%) MDS patients and in 164/494 (33.2%) controls. At diagnosis, the median serum ferritin levels were higher in MDS patients with <i>HFE</i>-variants (409 µg/L; range: 23-7415) compared to those without <i>HFE</i>-variants (346.5 µg/L; range: 10-5450) (P=0.62). Moreover, '<i>HFE</i>-mutated' patients had a slightly faster increase in serum ferritin in follow up examinations. The percentage of patients with <i>HFE</i>-variants was higher in refractory anemia (RA) (22/53=41.5%) or RA with ring sideroblasts (RARS) (17/39=43.6%) compared to RA with excess of blasts (RAEB) (16/46=34.8%) or RAEB in transformation (RAEB-T) (5/17=29.4%). Differences were also detectable when comparing low- and high-risk MDS variants defined by the World Health Organization classification. There was no significant correlation between <i>HFE</i>-variants and MDS-related somatic mutations. Progression-free survival was substantially longer in patients with <i>HFE</i>-variants compared to those without <i>HFE</i>-variants H63D and C282Y (P=0.089). Together, the <i>HFE</i>-variants H63D and C282Y are frequently detected in Austrian MDS patients. These patients have substantially higher ferritin levels at diagnosis, accumulate iron slightly faster and have a better progression-free survival than non-mutated patients."],"journal":["American journal of cancer research"],"pagination":["955-967"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7994158"],"repository":["biostudies-literature"],"pubmed_title":["Impact of <i>HFE</i> gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes."],"pmcid":["PMC7994158"],"pubmed_authors":["Kundi M","Schneeweiss-Gleixner M","Schwarzinger I","Wimazal F","Esterbauer H","Steinhauser C","Krauth MT","Herndlhofer S","Schellnegger J","Greiner G","Hoermann G","Fodinger M","Valent P","Gleixner KV","Thalhammer R","Sperr WR"],"additional_accession":[]},"is_claimable":false,"name":"Impact of <i>HFE</i> gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.","description":"Although iron overload is a clinical challenge, little is known about the clinical impact of <i>HFE</i>-variants in myelodysplastic syndromes (MDS) to date. We analyzed the <i>HFE</i> status in 167 MDS patients and 494 healthy controls. One or more of the 3 <i>HFE</i>-variants (H63D, C282Y, S65C) were found in 65/167 (38.9%) MDS patients and in 164/494 (33.2%) controls. At diagnosis, the median serum ferritin levels were higher in MDS patients with <i>HFE</i>-variants (409 µg/L; range: 23-7415) compared to those without <i>HFE</i>-variants (346.5 µg/L; range: 10-5450) (P=0.62). Moreover, '<i>HFE</i>-mutated' patients had a slightly faster increase in serum ferritin in follow up examinations. The percentage of patients with <i>HFE</i>-variants was higher in refractory anemia (RA) (22/53=41.5%) or RA with ring sideroblasts (RARS) (17/39=43.6%) compared to RA with excess of blasts (RAEB) (16/46=34.8%) or RAEB in transformation (RAEB-T) (5/17=29.4%). Differences were also detectable when comparing low- and high-risk MDS variants defined by the World Health Organization classification. There was no significant correlation between <i>HFE</i>-variants and MDS-related somatic mutations. Progression-free survival was substantially longer in patients with <i>HFE</i>-variants compared to those without <i>HFE</i>-variants H63D and C282Y (P=0.089). Together, the <i>HFE</i>-variants H63D and C282Y are frequently detected in Austrian MDS patients. These patients have substantially higher ferritin levels at diagnosis, accumulate iron slightly faster and have a better progression-free survival than non-mutated patients.","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2024-02-15T03:33:49.066Z","creation":"2022-02-09T12:07:27.085Z"},"accession":"S-EPMC7994158","cross_references":{"pubmed":["33791166"]}}