A Pivotal First Step
Researchers from the Icahn School of Medicine at Mount Sinai
and Harvard Medical School recently discovered a connection between a form of
liver cancer and two mutations in the IDH gene. Intrahepatic cholangiocarinoma
(iCCA) is the second most common form of liver cancer. Although there had
previously been evidence of IDH mutations in patients with iCCA, this study
marks the first time the exact genes, IDH1 and IDH2, have been targeted and
identified specifically as a direct link. An story from Newswise
detailed the study and subsequent findings.
“Our findings provide novel insights into the development of
iCCA and offers a possible treatment option for patients suffering from this
fatal disease,” said Josep Maria Llovet, MD, director of the liver cancer
program at Mount Sinai’s Icahn School of Medicine, in the article.
The study demonstrated the effect of mutated IDH genes using
mice, showing a decrease in the liver’s ability to health itself and an
increase in “the number of cells to form a tumor. The gene mutations also
resulted in a relationship with the KRAS gene, which is known to be linked to
the development of cancer. The combination of these factors leads to formations
of malignant legions in a liver with weakened defenses and, eventually, iCCA. According
to the story, targeting IDH1 and IDH2 as pathways for iCCA has already resulted
in new clinical trials to determine their impact on iCCA patients.
“iCCA is resistant to standard treatments like chemotherapy
and radiation,” explained Llovet. “Understanding the molecular mechanism of the
disease is the key to finding a treatment that works.”
Although the article pointed out, “there is no first-line,
standard of care and no successful therapies” for patients with iCCA, the study
has provided a necessary first step in the development of a treatment for the
disease. The discovery has opened the door for further investigation into a
relatively mysterious cancer and could potentially lead not only towards a
broader understanding, but also a successful therapy.