Myelofibrosis

Genetic Testing

Many cancers are caused by genetic mutations, which are changes that occur in DNA. Genetic mutations can be acquired (genetic damage that occurs during a person’s lifetime) or germline (a genetic mutation that came from the sperm or egg of a parent and is passed on to the child after conception). Most cancer-associated mutations are acquired mutations. Myelofibrosis is not inherited from a parent but rather is typically caused by an acquired gene mutation. The exact cause of myelofibrosis, however, is unknown.

Cytogenetics and molecular testing are laboratory tests used to examine the chromosomes, genes, proteins or other molecules in a blood or tissue sample. Your doctor will order these tests during the diagnostic process. With myelofibrosis, these tests help determine if you have a specific gene mutation (see Treatment Options).

About half of myelofibrosis patients have a gene mutation in the Janus kinase (JAK) gene. Other common mutations include the calreticulin (CALR ) gene and the myeloproliferative leukemia (MPL) gene. Some targeted therapies in the form of kinase inhibitors are available to treat certain mutations. The BCR-ABL1 gene is often tested to rule out chronic myelogenous leukemia (CML).

Additionally, your doctor may order tests for these gene mutations that have been found to be associated with myelofibrosis: ASXL1, EZH2, TET2, IDH1, IDH2, SF3B1 and SRSF2. Research is underway in clinical trials to find other mutations (see Clinical Trials).

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