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she did just that a few days later when she saw her family doctor, who referred her to a hematologist. blood tests in january 2021 confirmed she had essential thrombocythemia (et), one of a group of three progressive blood cancers called myeloproliferative neoplasms (mpns), in which cells in the bone marrow that produce the blood cells develop and function abnormally . the other two include primary myelofibrosis (mf) and polycythemia vera (pv). women are more likely than men to develop et, as are people older than 60, and the reasons are not yet known.
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pieschel says not only was she diagnosed with et, she also had a mutation of the jak2 (janus kinase 2) gene in her blood-forming cells. according to the leukemia & lymphoma society , about half of et patients have the mutation, which doesn’t appear to affect the course or nature of the disease.
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cheryl petruk, executive director of the canadian mpn research foundation and the canadian mpn network , says research is also looking into how a person’s dna plays a role and how the mutation manifests.
“they’re even doing research in germ lines ( egg and sperm cells that join to form an embryo) to see if it’s in the sperm and the egg,” says petruk. “do you acquire it from the dna of your parents? is it mutated because of something the parent was exposed to? it’s phenomenal research because it’s giving mpn patients hope, inspiration, knowledge and education.”
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