title: TP53 Mutations are infrequent in newly diagnosed chronic lymphocytic leukemia.
abstract: TP53 mutations in the absence of 17p-deletion correlate with rapid disease progression and poor survival in chronic lymphocytic leukemia (CLL). Herein, we determined the TP53 mutation frequency in 268 newly diagnosed CLL patients from a population-based material. Overall, we detected TP53 mutations in 3.7% of patients (n = 10), where 7/10 cases showed a concomitant 17p-deletion, confirming the high prevalence of TP53 mutation in 17p-deleted patients. Only 3 (1.1%) of the newly diagnosed patients in our cohort thereby carried TP53 mutations without 17p-deletion, a frequency that is much lower than previous reports on referral cohorts (3-6%). Our findings imply that TP53 mutations are rare at CLL onset and instead may arise during disease progression.
authors.affiliation: Department of Oncology, Radiology and Clinical Immunology, Uppsala University, Uppsala SE-751 85, Sweden.
authors.forename: Norafiza
authors.initials: N
authors.lastname: Zainuddin
authors.forename: Fiona
authors.initials: F
authors.lastname: Murray
authors.forename: Meena
authors.initials: M
authors.lastname: Kanduri
authors.forename: Rebeqa
authors.initials: R
authors.lastname: Gunnarsson
authors.forename: Karin E
authors.initials: KE
authors.lastname: Smedby
authors.forename: Gunilla
authors.initials: G
authors.lastname: Enblad
authors.forename: Jesper
authors.initials: J
authors.lastname: Jurlander
authors.forename: Gunnar
authors.initials: G
authors.lastname: Juliusson
authors.forename: Richard
authors.initials: R
authors.lastname: Rosenquist
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53