An indolent B-cell lymphoma with t(2;8)(p12;q24) abnormality and absence of C-MYC amplification and TP53 deletion. A new variant?

The translocation between chromosomes 2 and 8, t(2;8), is well known for its strong association with high-grade Burkitt lymphoma. However, the significance of this translocation in indolent lymphoproliferative disorders is not clear. We present the case of a 75-year-old white male with left upper quadrant abdominal pain, splenomegaly, and an elevated white cell count of 30.

Primed in situ labeling (PRINS) for evaluation of gene deletions in cancer.

Rearrangements involving the 13q14 and 17p13 chromosomal regions are often observed in leukemias and lymphomas. These rearrangements are not always identifiable cytogenetically. In more than 50% of cases, deletions occur at the submicroscopic level and the karyotypes appear normal.

Chromosome duplications and deletions and their mechanisms of origin.

Duplications and deletions of the same gene loci or chromosome regions are known to produce different clinical manifestations and are significant factors in human morbidity and mortality. Extensive cytogenetic and molecular cytogenetic studies with cosmid and YAC probes in two patients with unique mosaicism for reciprocal duplication-deletion allowed us to further understand the origin of these abnormalities. The first patient's mosaic karyotype was 46,XX, inv dup(11) (q23q13)/46,XX,del(11)(q13q23).

Validation of primed in situ labeling (PRINS) for interphase analysis: comparative studies with conventional fluorescence in situ hybridization and chromosome analyses.

Primed in situ labeling (PRINS) is a rapidly developing new technology with wide ranging clinical applications. To assess the sensitivity, specificity, and accuracy of PRINS, we carried out a retrospective study on cultured bone marrow cells to detect aneuploidy for chromosomes 7, 8, and 12. The results were then compared to the results of previous fluorescence in situ hybridization (FISH) and chromosome analyses (CA).

Prenatal karyotyping using fetal blood obtained by cordocentesis: rapid and accurate results within 24 hours.

Spontaneously-dividing nucleated erythrocytes present in prenatal cordocentesis samples can be used to obtain fetal karyotype information within 24 hours. Following a modified protocol we performed rapid chromosome analysis on fetal blood from 70 second- and third-trimester fetuses. In all cases cordocentesis was performed following detection of ultrasound abnormalities.