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
00:00
The Importance of Early Recognition and Active Surveillance in Patients With ERCC 6L2 Variants
The study by Hakkarinen and collaborators has implications for both genetic diagnostics and counseling. The authors concluded that their findings point to the importance of early recognition and active surveillance of patients with biolilic germline ERCC 6L2 variants. Since CBC abnormalities can be mild, despite the presence of TP53-mediated clonal evolution, or marrow dysplasia, this is analogous to Schwachmann-Diamonds syndrome.
Transcript
Play full episode
