Spectral karyotyping of human, mouse, rat and ape chromosomes--applications for genetic diagnostics and research.

Spectral karyotyping (SKY) is a widely used methodology to identify genetic aberrations. Multicolor fluorescence in situ hybridization using chromosome painting probes in individual colors for all metaphase chromosomes at once is combined with a unique spectral measurement and analysis system to automatically classify normal and aberrant chromosomes. Based on countless studies and investigations in many laboratories worldwide, numerous new chromosome translocations and other aberrations have been identified in clinical and tumor cytogenetics. Thus, gene identification studies have been facilitated resulting in the dissection of tumor development and progression. For example, different translocation partners of the TEL/ETV6 transcription factor that is specially required for hematopoiesis within the bone marrow were identified. Also, the correct classification of complex karyotypes of solid tumors supports the prognostication of cancer patients. Important accomplishments for patients with genetic diseases, leukemias and lymphomas, mesenchymal tumors and solid cancers are summarized and exemplified. Furthermore, studies of disease mechanisms such as centromeric DNA breakage, DNA double strand break repair, telomere shortening and radiation-induced neoplastic transformation have been accompanied by SKY analyses. Besides the hybridization of human chromosomes, mouse karyotyping has also contributed to the comprehensive characterization of mouse models of human disease and for gene therapy studies.

[Preliminary results of a chemotherapy study of patients with squamous cell carcinoma in the head and neck region. Comparison of 2 therapeutic regimens: cis-diamminodichloroplatinum (II) and bleomycin compared to methotrexate and vindesine]. / Zwischenauswertung einer Chemotherapie-Studie and Patienten mit Plattenepithelkarzinomen im Kopf-Hals-Bereich. Vergleich zweier Therapieregime: Cis-Diaminodichloroplatinum (II) (cis-DIP) und Pleomycin gegen Methotrexat und Vindesin.

The preliminary results of a controlled study for treatment of 33 patients with squamous cell carcinoma of the head and neck region with regimen A: cis-DDP (3 mg/M2 dl) plus Bleomycin (15 mg/m2 i.v. continuously d2-6) against regimen B: Methotrexate (30 mg/m2 i.v. dl + 6) and vindesine (3 mg/m2 i.v. dl + 7) were as follows: complete remission (cr): 1 X A, 0 X B; partial remission (pr): 6 X A, 4 X B; minor response (mr): 3 X A, 7 X B; no change (nc): 2 X A, 0 X B; progression (pg): 5 X A, 5 X B. Due to progressive disease 8 patients were further treated with the alternative regimen with following results: cr: 1 X A; mr: 1 X A, 2 X B; nc: 1 X B; pg: 3 X A. Considering prognostic factors it could be demonstrated that primary chemotherapy (pc) was more effective that applied after operation and/or radiotherapy (secondary chemotherapy = sc): cr + pr: (= 53%), 4 X sc (= 22%); nc + pg: 1 X pc (= 7%), 7 X sc (= 39%).