Benjamin Rolles, MD, on TP53 Mutations in MPN

By Benjamin Rolles, MD - Last Updated: December 13, 2023

Benjamin Rolles, MD, of the Brigham and Women’s Hospital at Harvard Medical School, discussed his studies on TP53 mutations in patients with myeloproliferative neoplasms (MPN) at the 65th American Society of Hematology Annual Meeting & Exposition.

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“We have a lot of young patients with TP53 mutation, and right now there are no clinical guidelines on how to deal with these patients,” Dr. Rolles explained. “Due to that fact, we screened MPN patients [who] were treated at the Dana-Farber Cancer Institute.”

In a database of 947 patients with MPN, 40 patients had TP53 mutations. Of those 40 patients, 27 had a single-hit mutation and 30 had a multi-hit mutation. According to Dr. Rolles, multi-hit is defined as TP53 mutation with a variant allele frequency higher than 50%, the presence of two or more TP53 mutations, or a TP53 mutation plus deletion 17p.

Dr. Rolles discussed the studies’ two main findings. “Close to every patient [who] has had a TP53 mutation had bone marrow fibrosis,” he said. “And the second interesting finding was that the survival did not really differ between patients [who] had a single-hit TP53 and patients [who] had fibrosis, showing that worse survival in single-hit TP53 patients was mainly driven by the bone marrow fibrosis itself.”

For future studies, Dr. Rolles is looking to increase the cohort and further characterize TP53 mutations by focusing on the groups of single-hit and multi-hit patients and locating the factors that drive prognosis.

“The overall goal is to create clinical guidelines on how to deal with young or old MPN patients [who] have TP53 mutation,” he concluded.

Post Tags:ASHMPN2023
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