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Updated: Aug 9, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
A novel p27 gene mutation in a case of unclassified myeloproliferative disorder
V Pappa1, S Papageorgiou, E Papageorgiou
1Second Department of Internal Medicine Propaedeutic, Attikon University General Hospital, Rimini 1, Chaidari, Athens, Greece. vas_pappa@hotmail.com
Abstract:
P27 encodes a member of Cip/Kip family of cyclin dependent kinase inhibitors, the inactivation of which has been implicated in the pathogenesis of various hematological neoplasias. We report on a novel point mutation of this gene identified in a case of unclassified myeloproliferative syndrome consisting of a T --> C transversion at 821bp of p27 exon 1, resulting in a Ile --> Thr substitution at codon 119. The analysis of larger number of cases as well as the effect of this mutation on protein's function will help to clarify its significance in the pathogenesis of myeloproliferative syndromes.
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