Lead Inventor:
Riccardo Dalla-Favera, M.D.
Multiple myeloma diagnostic detects chromosomal breakages:
Multiple myeloma (MUM) is a cancer of plasma cells and is the second most common blood-borne cancer in the United States. This type of cancer is commonly due to chromosomal breakage and mis-rearrangement, causing overexpression of tumor-inducing oncogenes. Since multiple myeloma can present similarly to other more benign disorders of plasma cell proliferation (i.e. myoclonal gammopathy, etc.), diagnostic tests which can accurately detect the type of chromosomal abnormality present are necessary for diagnosis and subsequent treatment of this disease.
Diagnostic for detection of chromosomal abnormalities related to multiple myeloma:
This technology demonstrates a diagnostic method which is able to detect chromosomal abnormalities, specifically MUM-1 and MUM-2 which are related to multiple myeloma. Specifically, the diagnostic testing requires a DNA sample from a patient who etiher has or is at risk for multiple myeloma. Using hybridization probes to assess the DNA, the diagnostic test determines if there is J and C disjunction in the immunoglobulin (Ig) heavy chain gene and in addition, whether there are any chromosomal breakages (particularly in chromosome 14). These methods allow the analysis of 14q+ chromosomal translocations and thus may be used to detect a predisposition to MUM by detecting rearrangement of nucleic acid associated with the expression of MUM-1 or MUM-2 (specific chromosomal rearrangements associated with MUM).
Applications:
• Diagnosis of multiple myeloma
• Detection of MUM-1 and MUM-2 chromosomal rearrangements
• Screening patients who are at risk for MUM
Advantages:
• Diagnostic test specifically for MUM
• Detects multiple forms of MUM, not specific to one type of translocation
• Highly sensitive for MUM-1 and MUM-2 types
Patent Status: Patents issued in multiple countries (including US 6,245,562 & US 6,958,386) ~ see links below.
Licensing Status: Available for Licensing and Sponsored Research Support
Publications: Rao et al. Multicolor spectral karyotyping identifies new recurring breakpoints and translocations in multiple myeloma.
Blood. 1998 Sep 1;92(5):1743-8
