Washington University researchers have decoded the complete
DNA of a patient suffering from Leukemia, and traced the genetic origins of her
cancer.
The team has discovered ten gene mutations which played a
key role in the development of the horrible disease. Only two of these had been
tied to the horrible disease before.
Two samples of skin have been taken from the ailing woman of
50 (who unfortunately succumbed to the disease later on – one from healthy skin
cells, and others from cancerous bone marrow.
Their findings were that virtually every cell from the tumor
cells had nine of the ten key mutations.
Acute myeloid leukemia (AML), which is a cancer of the bone
marrow cells which form Leukocytes (red blood cells), comes from mutations
which accumulate in the DNA of a person throughout their life, each subsequent
mutation being a step closer to the cell’s malignancy.
Unfortunately not much is known about the nature of these
changes, and how each of them disrupts biological pathways and ultimately causes
the uncontrolled cell-growth which defines cancer.
In the past scientists have tried to look at common points
of DNA variation which may be relevant to disease risk in order to decode
malignant genomes. The Washington team however has used a gene sequencing
system through which they were able to search through three billion pairs of
chemical bases making up the human genome and identify mutations which
contributed to the cancer.
To underline the importance of this study, Geneticist Dr.
Francis Collins, who is a former director of the U.S. National Human Genome
Research Institute, and who commented to the press on the study, called it “a
true land mark in cancer research.”
''In the past, cancer researchers have been 'looking
under the lamp-post' to find the causes of malignancy,'' Collins said, ''but now
the team from Washington University has lit up the whole street. This
achievement ushers in a new era of comprehensive understanding of the
fundamental nature of cancer, and offers great promise for the development of
powerful new approaches to diagnosis, prevention and treatment.''
Interestingly enough, three of the newly-discovered
mutations occurred in genes which usually suppress tumor growth, while four
others were in genes associated with the spread of cancer.
Another apparently affects the transport of drugs into
cells, which may explain resistance in some individuals to cancer chemotherapy.
Researchers are looking for other mutations which may have a role in the
disease.
Tumor samples from another 187 AML patients were examined,
but none of them had any of the new mutations.
Lead researchers in the study Dr. Wilson said that ''This
suggests that there is a tremendous amount of genetic diversity in cancer, even
in this one disease. There are probably many, many ways to mutate a small
number of genes to get the same result, and we're only looking at the tip of
the iceberg in terms of identifying the combinations of genetic mutations that
can lead to AML.''