Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms

Maria Teresa Bochicchio
ORCID logo ,
Giorgia Micucci
,
Silvia Asioli
,
Martina Ghetti
* ,
Giorgia Simonetti
ORCID logo ,
Alessandro Lucchesi
ORCID logo
Version 1 : Received: 21 September 2023 / Approved: 22 September 2023 / Online: 22 September 2023 (08:35:11 CEST)

A peer-reviewed article of this Preprint also exists.

Bochicchio, M.T.; Micucci, G.; Asioli, S.; Ghetti, M.; Simonetti, G.; Lucchesi, A. Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms. Int. J. Mol. Sci. 2023, 24, 16021. Bochicchio, M.T.; Micucci, G.; Asioli, S.; Ghetti, M.; Simonetti, G.; Lucchesi, A. Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms. Int. J. Mol. Sci. 2023, 24, 16021.

Abstract

Chronic myelomonocytic leukemia (CMML) is a hematological neoplasm characterized by monocytosis, splenomegaly, thrombocytopenia and anemia. Moreover, it is associ-ated with SRSF2 mutations and rarely with CSF3R variants. The presented case is an 84-year-old patient with persistent anemia and monocytosis. Due to the presence of dysmorphic granulocytes, monocyte atypia and myeloid precursors in peripheral blood, the patient was submitted to bone marrow examination. The diagnosis was consistent with CMML type 2. Hemocoagulative test showed an increase of fibrinolysis markers. Next generation targeted sequencing showed TET2 and SRSF2 mutations, along with an unexpected CSF3R germline missense variant, rarely encountered in CMML. The pa-tient started Azacitidine treatment reaching normal hemostatic process values. In con-clusion, we identified a heterozygous germline mutation that, cooperating with TET2 and SRSF2 variants, have been responsible for the hemorrhagic manifestation.

Keywords

chronic myelomonocytic leukemia; CSF3R; bleeding disorders; predisposing genes; NGS

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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