TP53 mutations and polymorphisms in primary myelofibrosis

Sania Raza, David Viswanatha, Lori Frederick, Terra Lasho, Christy Finke, Ryan Knudson, Rhett Ketterling, Animesh Pardanani, Ayalew Tefferi

Research output: Contribution to journalLetterpeer-review

10 Scopus citations

Abstract

A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). Three (75%) of the four TP53-mutated cases also carried JAK2V617F whereas none were positive for MPL or IDH mutations. Two of the four TP53 mutated cases were also screened for TET2, ASXL1, DNMT3A, and EZH2 mutations and were negative. There was no significant difference in presenting features or survival between TP53 mutated and unmutated cases. TP53 exon 4 single nucleotide polymporphism (SNPs) data for codon 72 were available on 104 patients and included 56% with homozygous Arg72Arg, 33% with heterozygous Pro72Arg, and 11% with homozygous Pro72Pro. There were no significant differences among the three codon 72 genotypes in terms of presenting characteristics or survival.

Original languageEnglish (US)
Pages (from-to)204-206
Number of pages3
JournalAmerican journal of hematology
Volume87
Issue number2
DOIs
StatePublished - Feb 2012

ASJC Scopus subject areas

  • Hematology

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