A Long Island patient who died of a rare form of leukemia has helped medical science learn more about the genetics of the disease than specialists had previously known, doctors report in an unusual case study.

Working as a collaborative team, scientists at Cold Spring Harbor Laboratory and clinicians at the Monter Cancer Center in Lake Success helped find two previously unknown gene mutations as a result of studying the DNA of the patient, who had mast cell leukemia.

"What we found has never been reported in this form of leukemia, so that's pretty novel," said Dr. Mona Spector, research investigator at Cold Spring Harbor Laboratory.

These mutations, experts say, may ultimately help improve doctors' ability to diagnose the disease and use targeted drug therapy for a condition that too often has a poor prognosis.

"Mast cell leukemia is exceedingly rare," said Dr. Steven Allen, associate chief of hematology at North Shore-LIJ's Monter Cancer Center. "It's the type of leukemia that experienced leukemia doctors may see only once or twice in the course of their careers."

Patients usually die within six months of diagnosis; this one died within three, but not before providing medical science with potent new genetic insights into the disease, which is an aggressive subtype of acute myeloid leukemia.

The case study is reported in the current issue of the journal Leukemia.

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The subject of the case study was one of Allen's patients, a woman in her thirties, but otherwise the Long Island patient's identity is shielded by confidentiality laws.

The two mutations discovered as a result of research into her case have unmasked the reason why so many patients with the malignancy do not fare well when treated.

Currently, Allen said, these patients have limited therapeutic options.

Mast cell leukemia patients, he added, are always screened to see whether they have a mutation in a gene called KIT. When the mutation is present, patients are resistant to standard therapy.

Allen's patient was negative for that gene and was treated according to guidelines -- but the therapy wasn't working.

Spector began combing through the patient's DNA, molecule by molecule.

Then, she found it: another gene mutation that also causes patients to repel standard treatment. As she continued working, Spector found yet another mutation that can impact treatment, including a drug in clinical trials.

If doctors had known about the mutant DNA earlier, they could have changed the course of treatment. Now, they're weighing the implications this patient's case may have on the treatment of others with mast cell leukemia.

"We must really keep in mind this was a single case study and we have to follow it up with many other studies," Spector said, to prove the mutations are present in other patients.