11/6/2023 0 Comments Next gene sequencing![]() This again needs to investigate numerous mutations in a tumor sample. With the advent of immunotherapy, tumor mutation burden has become an important parameter to be tested 23. Such findings also indicate that multiple mutations need to be tested by diagnostic and follow-up molecular tests. Besides, not only solid tumors may have multiple mutations, but metastatic tumors may also have mutations different from that of the primary tumor 21, 22. Due to clonal evolution, many different gene mutations need to be tested during follow-up. Therefore, in cancer patient care, multiple gene mutations need to be tested very often. This is called tumor mutation heterogeneity 20. These mutations can originate from one clone or multiple clones. A solid tumor may have multiple mutations. This observation has changed the old one-tumor one-mutation concept. A similar phenomenon has been observed in solid tumors too 17, 19. Such phenomenon is referred to as clonal evolution 14- 18. A leukemic disease may not only have more than one clone of leukemic cells, and the clones may change during the course of the disease. A patient’s sample with many mutations may have more than one clone of leukemic cells. In a patient’s sample, the leukemic cells bearing the same mutation are believed to be originated from one clone. The genes harboring these mutations include but are not limited to TET2, DNMT3a, ASXL1, EZH2, SF3B1, SRSF2, U2AF1, ZRSR2, TP53, STAG2, NRAS, CBL, JAK2, NF1, RUNX1, ETV6, IDH1, IDH2, SETBP1, PHF6, BCOR, STAT3, and PPM1D 13. In myelodysplastic syndrome, many mutations have been found associated with different clinical implications. The mutations in NPM1 and CEBPA of a RUNX1 have been found in acute myeloid leukemia (AML) associated with different entities of AML subtypes 12. For example, different mutations have been discovered in different hematopoietic leukemias. In recent years, scientific research has revealed an increasing number of mutations in different diseases. Therefore, less tissue is needed and the results of dozens and hundreds of DNA targets are obtained from one test. Using NGS technology, these targets can be interrogated in one test. A larger amount of tissue may be needed for these multiple assays. If the traditional molecular assays are used in such clinical settings, multiple assays may have to be performed for multiple mutations. For example, in cancer patient care, any given tumor may have multiple mutations. Such capacity gives NGS huge potential application in clinical settings. One of the advantages of NGS is to interrogate many targets at the same time on the scale of hundreds and thousands or even millions of targets.
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