Identifying molecular markers for the sensitive detection of residual atypical XXXX cells.

@entity1 @entity41 @entity5 @entity1221 @entity5606 @entity1129 @entity6195
@entity5606 ( @entity5606 ), a rare and highly @entity1221 that presents in early childhood, has a poor prognosis. @entity1129 /RTs are characterized by biallelic inactivating mutations of the gene @entity6195 in 98% of @entity1 ; these mutations may serve as molecular markers for @entity41 cell detection in liquid biopsies. We developed a marker-specific method to detect residual @entity5606 cells. Seven of 150 @entity1 samples were selected, each with a histological and genetically ascertained diagnosis of @entity5606 . @entity5 tissue was either formalin fixed or fresh frozen. DNA was extracted from the @entity1 ' peripheral blood leukocytes (PBL) and cerebrospinal fluid (CSF). Multiplex ligation-dependent probe amplification, DNA sequencing, and fluorescence in situ hybridization were used to characterize the @entity5 ' mutations. @entity41 cell detection used mutation-specific primers and real-time PCR. The detection limit for the @entity41 cell search was 1-18%, depending on the quality of the template provided. The @entity41 cell search in PBL and CSF was negative for all seven @entity1 . The @entity6195 region of chromosome 22 is prone to DNA double-strand breaks. The individual breakpoints and breakpoint-specific PCR offer the option to detect minimal @entity41 cells in CSF or blood. Even if we did not detect minimal @entity41 cells in the investigated material, proof of principle for this method was confirmed.
