Understanding the Genetic Abnormalities and Risk Factors of Chronic Myelomonocytic Leukemia (CMML): Insights for Diagnosis, Prognosis, and Treatment

Which of the following is most closely associated with chronic myelomonocytic leukemia?

Chronic myelomonocytic leukemia (CMML) is a type of blood cancer that falls under the category of myelodysplastic/myeloproliferative neoplasms

Chronic myelomonocytic leukemia (CMML) is a type of blood cancer that falls under the category of myelodysplastic/myeloproliferative neoplasms. It is characterized by the abnormal production and accumulation of immature white blood cells, namely myelocytes and monocytes, in the bone marrow and blood.

CMML is most closely associated with a specific genetic abnormality called the deletion of the long arm of chromosome 7, which is denoted as del(7q). This genetic alteration occurs in a subset of CMML patients and is considered a poor prognostic marker for the disease. The deletion of chromosome 7q leads to the loss of certain tumor suppressor genes and is associated with disease progression and a higher risk of transformation into acute myeloid leukemia (AML).

Apart from del(7q), CMML is also associated with various other genetic mutations commonly seen in myeloid malignancies. These mutations frequently involve genes such as TET2, ASXL1, SRSF2, and RUNX1. These mutations affect the normal functioning and maturation of blood cells, leading to the overproduction of immature cells and the development of CMML.

Furthermore, CMML can also be associated with certain risk factors such as advanced age, exposure to certain chemicals or toxins, previous chemotherapy or radiation therapy, and certain inherited genetic syndromes.

It is important to note that CMML is a complex disease, and multiple factors can contribute to its development and progression. Genetic abnormalities, including del(7q), play a significant role in the pathogenesis of CMML and help in its diagnosis, risk assessment, and treatment planning.

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