PubMed · 14348610
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L E REISMAN, A DARNELL, J W MURPHY. 1965-08-28. ABNORMALITIES WITH RING CHROMOSOME.. https://doi.org/10.1016/s0140-6736(65)90802-0
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14q32 translocations [t(14q)] represent critical but not universal events in multiple myeloma (MM). Gains of chromosome arms 1q, 9q, and 11q (+1q, +9q, and +11q) have recently been identified as frequent aberrations in this disease, but their pathogenetic significance remains unclear. We studied a series of 108 MM patients using fluorescence in situ hybridization and DNA probes mapping to chromosome bands 1q21, 9q34, 11q25, 13q14, and 14q32. Three subsets of tumors were defined: (1) MM+/+ (detection of +9q and +11q; 43.5% of cases), (2) MM+/- (+9q or +11q; 21.3%), and (3) MM-/- (neither +9q nor +11q; 35.2%). The incidence of t(14q) was significantly different in these subgroups: 23% in MM+/+, 56% in MM+/-, and 89% in MM-/-. Deletion of 13q (13q-) also was significantly less frequent in MM+/+ (23%) than in MM+/- and MM-/- (36% and 63%, respectively). The nonrandom distribution of chromosomal aberrations in the present series of MM tumors points to a novel, 14q32 translocation-independent pathogenetic pathway in plasma cell neoplasms.
Molecular methods can complement the classical methods in pathology like macroscopic, histological and immunohistochemical examinations.Comparative genomic hybridization is a cytogenetic method to screen for gains and losses of chromosomal material in tumor cells. This method allows defect studies of archival paraffin-embedded and formalin-fixed tumor material. CGH can detect gains and losses of chromosomal material that are at least 10 to 20 megabases in size. This genome-wide screening method allows to study the cytogenetic relationship between differently located tumors of a patient. To answer the question if these different tumors are metastases of the primary lung tumor or independent primary tumors CGH analysis is a supplementary method that introduces new prospectives.
This paper describes a unique, simple, and rapid method for inducing premature chromosome condensation (PCC) in "resting" human peripheral blood lymphocytes (HPBLs) and also explains an approach to studying numerical changes and/or structural aberrations involving specific chromosomes. HPBLs are isolated from whole blood on a density gradient and, to induce PCC, are incubated at 37 degrees C in cell culture medium supplemented with a phosphatase inhibitor (okadaic acid or calyculin A), adenosine triphosphate (ATP), and p34cdc2/cyclin B kinase (an essential component of mitosis-promoting factor [MPF]). PCC spreads are prepared on glass slides after a brief hypotonic treatment of cells and fixing in acetic acid/methanol fixative. Aberrations involving specific chromosomes are analyzed after in situ hybridization and chromosome painting by fluorescence microscopy. Normal (undamaged) cells display two fluorescent spots per chromosome, whereas aneuploid cells, or cells with a structural aberration involving the specific chromosome corresponding to the painting probe, may show more than two spots. This method may be used in many biological and toxicological fields that require analysis of numerical and structural aberrations involving specific chromosomes.