Prolonged response after stopping TPO-RA in ITP, TP53 mutations and myelofibrosis outcomes, clinical picture of ERCC6L2 disease, where variants predispose to marrow failure and malignancy
Blood Podcast
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The Founder Effect of ERCC 6L2 C1424-Delt on Bone Marrow Failure
At initial presentation, 32 individuals were diagnosed with bone marrow failure and 15 with a hematological malignancy. Hyposellular bone marrow failure with cytopenia was the most common initial manifestation in nearly two-thirds of patients. Overall survival at three years was significantly higher for patients with marrow failure than those with a HeLa malignancy (95% versus 19%)
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