Diagnostic Biomarker: Methods and Characteristics for Diagnosis of Acute Lymphocytic Leukemia (ALL)


Summary of Invention

There is currently no available screen for leukemia. Memorial Sloan Kettering scientists have discovered a particular genomic DNA mutation in the PAX5 gene, which indicates susceptibility to leukemia and can be used as a diagnostic test for acute lymphoblastic leukemia (ALL). The technique involves collection of genomic DNA from the patient and subsequent PCR-based detection of the PAX5 gene. Findings were published in Nature Genetics.

This biomarker can be used to screen for leukemia susceptibility during the pre-implantation period of in vitro fertilization (IVF) to facilitate informed decisions about fertilized egg selection for implantation. It also can be used to screen for leukemia mutation carriers during the prenatal period in order to detect ALL predisposition in the fetus as well as improve prognosis through increasing surveillance and risk assessment in the early years.


Shah, Sohela, et al. (2013) A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nature Genetics. 45, 1226-1231. PMID: 24013638.


  • Early detection of susceptibility (vital since majority of leukemia cases are in children ages 1-7)
  • IVF application permits screening during pre-implantation
  • Also detects de novo mutations in the germline, which occur in random leukemia cases

Market Need

There are over 6,070 new cases of ALL per year in the US. Although there are prognostic tests available, they are only useful for late-stage leukemia. Thus, there is a clear need for early detection diagnostic tests for use in either pre-implantation or prenatal diagnosis. Since screening technologies using small amounts of DNA are already in place and used in IVF clinics and hospitals by more than 8,000 Americans per year, this MSK invention easily could be incorporated into existing panels with widespread use.

Areas of Application

Leukemia, diagnostic biomarker

Stage of Development

Retrospective clinical studies complete, ready to use

Patent Information

U.S. National Application filed on 12/18/15; national applications pending in Europe, Canada, and Australia

Lead Inventor

Kenneth Offit, MD, Chief, Clinical Genetics Service, Memorial Sloan Kettering

Contact Information

Eileen Flowers, PhD
Licensing Manager

Stage of Development

Ready to use