Advances in Genetic Testing Show Promise for Managing Leukemia Research will Enable More Effective Treatment of Acute Myeloid Leukemia

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New research into the genetic origins of acute myeloid leukemia (AML) and testing for specific cytogenetic-molecular abnormalities holds the promise of improved detection, treatment and survival rates.

New research into the genetic origins of acute myeloid leukemia (AML) and testing for specific cytogenetic-molecular abnormalities holds the promise of improved detection, treatment and survival rates.    

"Early detection is critically important to effective treatment of most cancers, but particularly so with AML because it is so fast-moving," says Dr. Shashi Pawar, director of genetics at Acupath Laboratories, Inc., a New York pathology lab. "Happily, new research into the presence and condition of a patient's genes - including the FLT3 and NPM1 genes - is providing new insights into potential targeted therapies."

About Acute Myeloid Leukemia:

Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells and is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. "Acute" means the leukemia can progress quickly if not treated.

Some 200,000 cases of acute myeloid leukemia are diagnosed annually worldwide. And while the survival rates of patients with AML has significantly improved over the past 25 years, the majority of patients still succumb to the disease. It strikes both children and adults, and accounts for 15- to 20 percent of all childhood acute leukemias and is responsible for more than 50 percent of the leukemic deaths in these patients.

It is also the most common acute leukemia affecting adults and its incidence increases with age. Although AML is a relatively rare disease, accounting for about 1.2 percent of cancer deaths in the United States, its occurrence is expected to increase as the overall population ages.

AML is initially treated with chemotherapy aimed at inducing a remission. Patients also may go on to receive additional chemotherapy or a hematopoietic stem cell transplant.        

Genetic screening for improved outcomes

FLT3 mutations are the single most common molecular abnormality known in acute myeloid leukemia. Some 30- to 35 percent of both adult and pediatric AML patients have mutations to their FLT3 gene.

Research shows FLT3 gene mutations confer a poorer prognosis on AML patients. But FLT3 selective gene inhibitors impair the transformation of primary AML cells that harbor these mutations. These targeted inhibitors have been linked to a more positive response to leukemia therapy and currently are being evaluated in treatment.

In another example, the NPM1 gene is mutated in about half of AML cases, making it the most common molecular lesion identified in the disease to date. More patients with mutated NPM1 genes displayed a higher complete remission rate (70.5 percent vs. 54.7 percent), a trend to longer overall survival (a media of 1012 vs. 549 days), and significantly longer event-free survival (median 428 vs. 336 days).

"The ability to screen for FLT3, NPM1 and other gene mutations is an exciting development in the care and treatment of acute myeloid leukemia," says Dr. Pawar. "It will allow physicians to stratify patients into distinct risk groups, select individually targeted treatment strategies, and monitor disease relapse and treatment effectiveness."

The role of Acupath:

Acupath, Inc. is expected to receive approval shortly from the New York State Department of Health to begin genetic testing for the presence of FLT3, NMP1 and other gene mutations to assist acute myeloid leukemia patients and their physicians as they both seek more personally targeted, successful treatments for this disease.

About Dr. Pawar:

Shashi Pawar, Ph.D, FACMG, is director of genetics at Acupath, Inc. ( With more than 20 years of varied experience in molecular genetics and molecular pathology, Dr. Pawar is board-certified in both clinical cytogenetics and clinical molecular genetics. Prior to joining Acupath, Dr. Pawar was technical director for Genova Diagnostics. She has been named a diplomat of the American Society of Human Genetics and a member of the association of Molecular Pathology. In addition, she has been published in the Journal of Biological Chemisty and the Proceedings of National Academy of Sciences, among others. She earned her Ph.D. in biochemistry at the City University of New York.

About Acupath Laboratories:

Acupath Laboratories, Inc. is a Plainview, New York, specialty medical lab engaged in leading-edge molecular and cytogenetic analysis.


Melissa Chefec
MCPR Public Relations


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