CSF3R T618I mutant myelodysplastic/myeloproliferative neoplasm in the elderly: An age-related disease with unfavorable prognosis

Xinmin Zhang; Cristina Ghiuzeli; Erin Jou; Peihong Hsu; Jonathan Kolitz; Judith P Brody

doi:10.1016/j.lrr.2022.100334

CSF3R T618I mutant myelodysplastic/myeloproliferative neoplasm in the elderly: An age-related disease with unfavorable prognosis

Leuk Res Rep. 2022 Jun 25:17:100334. doi: 10.1016/j.lrr.2022.100334. eCollection 2022.

Authors

Xinmin Zhang¹, Cristina Ghiuzeli², Erin Jou², Peihong Hsu¹, Jonathan Kolitz², Judith P Brody¹

Affiliations

¹ Department of Pathology and Laboratory Medicine, United States.
² Northwell Cancer Institute, Department of Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, United States.

Abstract

We reported two MDS/MPN-U and one CMML patients with CSF3R T618I mutation. There were two males and one female, with a median age of 84 years. Three patients presented with leukocytosis and anemia, two with thrombocytopenia, and one with monocytosis. In all the patients, bone marrow showed hypercellularity with myeloid or erythroid predominant trilineage hematopoiesis and dysplasia. Two cases carried -7/-7q abnormalities. In addition to CSF3R T618/I mutation, each case carried 3-5 additional somatic mutations. The median survival was only 2 months. These rare patients were characterized by old age, high mutation rates, clonal hematopoiesis-associated mutations, clonal evolution, and unfavorable prognosis.

Keywords: CSF3R mutation; Chronic myelomonocytic leukemia; Colony-stimulating factor 3 receptor (csf3r); Myelodysplastic/myeloproliferative neoplasm; Next generation sequencing.

Publication types

Case Reports