Metastatic Tumors ARE Different From Primary Tumors

Great research published today in Nature.  Canadian researchers have identified the complete genetic code for a metastatic breast tumor and compared it to the genetic code for the primary tumor.  This was in human breast tumors (the metastatic tumor found nine years after the primary) – not in a mouse or laboratory cell line.

Why is this exciting?  Because there were differences in the codes.  There were 19 additional mutations in the DNA of the metastatic tumor that weren’t there in the primary tumor.  The next step is for scientists to figure out what these differences mean.  How are these changes in genotype (or DNA) changing the behavior of the tumor cells?  Once scientists know that, targeted therapies can be developed to interrupt the metastasis or spread of these tumor cells.

For those of you who want the scientific jargon, the investigators sequenced the genome and transcriptomes of an estrogen-receptor positive metastatic lobular breast cancer and found 32 somatic non-synonymous coding mutations present in the metastasis. They then measured the frequency of these somatic mutations in DNA from the primary tumor of the same patient. Five of the 32 mutations (in ABCB11, HAUS3, SLC24A4, SNX4 and PALB2) were prevalent in the DNA of the primary tumor removed at diagnosis 9 years earlier, six (in KIF1C, USP28, MYH8, MORC1, KIAA1468 and RNASEH2A) were present at lower frequencies (1–13%), 19 were not detected in the primary tumor, and two were undetermined.  The authors conclude that a low to intermediate grade primary tumor goes through significant mutational evolution during the metastatic process.

Great research, eh?

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  • Marjorie  On October 9, 2009 at 1:15 pm

    This is the kind of research we hope gets funded and explored further. These clues just might unravel the mysteries of metastses.

  • Tami Boehmer  On October 14, 2009 at 2:06 pm

    Wow, this is very interesting stuff! We need more studies like this. Thanks for the information.

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