Abstract

Context: Chronic myelomonocytic leukemia (CMML) is a rare hematopoietic stem cell disorder that predominantly affects the elderly. Previous genetic analysis supports the presence of mutations including ASXL1, TET2, spliceosome components (SF3B1, SRSF2, U2AF1, and ZRSR2), and the oncogenic RAS pathway (NRAS, KRAS, CBL, PTPN11, and NF1). Objective: As part of a precision cancer surveillance to increase our basic, translational, and clinical understanding of rare diseases at the Huntsman Cancer Institute, we identified a cohort of patients with CMML treated at our institution. This report reports their clinical and molecular characteristics based on standard of care molecular profiling with myeloid next-generation sequencing. We also describe the overall survival of patients with molecular profiles of interest. Design: We extracted data from 57 CMML patients from the Huntsman Cancer Institute electronic health record system. We categorized the patients using their first bone marrow myeloid malignancy panel diagnosis between October 2009 and September 2020. We reviewed their charts for the following information elements: date of birth, sex, vital status, bone marrow biopsy, CMML diagnosis, and date of death or last follow-up. Our analysis was performed by producing Kaplan-Meier survival curves. Results: We identified a total of 34 gene mutationstal Saint-Louis, Paris, France

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