{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T00:33:14Z","timestamp":1783729994476,"version":"3.55.0"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:00:00Z","timestamp":1747785600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Dehydrated hereditary stomatocytosis (DHS) is a rare autosomal dominant congenital non-immune hemolytic anemia caused by pathogenic variants in the <jats:italic>PIEZO1<\/jats:italic> gene. Its clinical presentation often overlaps with other hematological disorders, leading to diagnostic challenges and potential mismanagement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A 22-year-old man presented with a 7-year history of anemia initially misdiagnosed as myelodysplastic syndrome (MDS) due to hypercellular bone marrow findings and MDS-like features. Over time, his condition progressed to include cerebral venous sinus thrombosis (CVST), a severe complication. Comprehensive genetic testing at our hospital using whole-exome sequencing (WES) revealed novel compound heterozygous <jats:italic>PIEZO1<\/jats:italic> variants: NM_001142864.4: c.6622A&amp;gt;G (p.Ile2208Val) and NM_001142864.4: c.3160C&amp;gt;A (p.Leu1054Met). These findings confirmed the diagnosis of DHS. The patient underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in resolution of his hematological abnormalities and symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case underscores the importance of considering DHS in patients with unexplained anemia and MDS-like features, particularly when associated with thrombotic complications. It highlights the critical role of genetic testing in diagnosing rare hereditary anemias and demonstrates that allo-HSCT can be a curative treatment in selected cases.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fonc.2025.1574518","type":"journal-article","created":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T05:24:19Z","timestamp":1747805059000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel compound heterozygous PIEZO1 variants in dehydrated hereditary stomatocytosis initially suspected as myelodysplastic syndromes: a case 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