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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 Clinical Picture of the ERCC 6L2 Disease

The dismal outcomes seemed to be triggered by leukemic transformation, which occurred significantly more often and sooner after transplant. The observation of increased relapse risk in patients with multi-hit T-P53 highlights a need for an alternative approach to transplant in this subgroup. In the final part of today's podcast, we will review a report published in blood entitled The Clinical Picture of the ERCC 6L2 disease from bone marrow failure to acute leukemia. Excision Repair Cross-Complementing 6-Like 2 is one of the genes recently identified as a driver of an inherited bone marrow failure syndrome.

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