Genotypic and phenotypic evolution in a patient with chronic myelomonocytic leukemia

Klaus Geissler; Eva Jäger; Michael Gurbisz

doi:10.1016/j.lrr.2019.100185

Genotypic and phenotypic evolution in a patient with chronic myelomonocytic leukemia

Leuk Res Rep. 2019 Oct 5:12:100185. doi: 10.1016/j.lrr.2019.100185. eCollection 2019.

Authors

Klaus Geissler^{1

2}, Eva Jäger³, Michael Gurbisz³

Affiliations

¹ Sigmund Freud University, Freudplatz 1, 1020 Vienna, Austria.
² Department of Internal Medicine V with Hematology, Oncology and Palliative Medicine, Hospital Hietzing, Wolkersbergenstrasse 1, 1130 Vienna, Austria.
³ Department of Laboratory Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

Abstract

The correlation of molecular and phenotypic evolution in individual patients with chronic myelomonocytic leukemia (CMML) is poorly investigated. The longitudinal follow up of a CMML patient for more than 10 years illustrates that the emergence of clones harboring mutations in TET2, SRSF2, RUNX1, MPL, NRAS, and finally in multiple genes, respectively, was mirrored by thrombocytopenia, thrombocytosis, myeloproliferation and transformation into acute myeloid leukemia. Moreover, molecular aberrations of the RAS genes were associated with markedly increased spontaneous in vitro myeloid colony formation which has been shown to be a functional indicator of RAS pathway hyperactivation.

Keywords: CMML; Evolution; Genotype; Phenotype.

Publication types

Case Reports