PMID- 12550762 OWN - NLM STAT- MEDLINE DCOM- 20030303 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 140 IP - 1 DP - 2003 Jan 1 TI - Trisomy 8 as the sole chromosomal aberration in myelocytic malignancies: a multicolor and locus-specific fluorescence in situ hybridization study. PG - 66-9 AB - Trisomy 8 is the most common chromosomal aberration in myelocytic malignancies, occurring both as a sole change as well as in addition to other abnormalities. In spite of this, next to nothing is known about its pathogenetic importance or its molecular genetic consequences. Possible mechanisms involved in the transformation process include dosage effects of genes mapping to chromosome 8 and presence of specific mutations or cryptic fusion genes on the duplicated chromosome. In the latter case, +8 would be secondary to a cryptic primary rearrangement and not involved in leukemogenesis as such, but rather in tumor evolution. Although hidden genetic changes have been found in some trisomies, for example, mutations in KIT in acute myelocytic leukemia (AML) with +4 and in MET in hereditary papillary kidney carcinoma with trisomy 7, none associated with +8 have so far been discovered. To address this issue, we have investigated a total of 13 cases of AML, myelodysplastic syndromes, and chronic myeloproliferative disorders with trisomy 8 as the sole chromosomal anomaly. All cases were studied by combined binary ratio multicolor fluorescence in situ hybridization (FISH) and with FISH using locus-specific probes for both arms of chromosome 8, the subtelomeric regions of 8p and 8q, and the leukemia-associated genes FGFR1, MOZ, ETO, and MYC. No cryptic changes were detected, thus excluding the possibility of gross genetic rearrangements or aberrations involving these loci on chromosome 8. FAU - Paulsson, Kajsa AU - Paulsson K AD - Department of Clinical Genetics, University Hospital, SE-221 85, Lund, Sweden. kajsa.paulson@klingen.lu.se FAU - Fioretos, Thoas AU - Fioretos T FAU - Strombeck, Bodil AU - Strombeck B FAU - Mauritzson, Nils AU - Mauritzson N FAU - Tanke, Hans J AU - Tanke HJ FAU - Johansson, Bertil AU - Johansson B LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (DNA Probes) SB - IM CIN - Cancer Genet Cytogenet. 2003 Oct 1;146(1):81-3. PMID: 14499702 MH - Acute Disease MH - Adult MH - Aged MH - Aged, 80 and over MH - Anemia, Refractory/genetics MH - Anemia, Refractory, with Excess of Blasts/genetics MH - Chromosome Painting/*methods MH - *Chromosomes, Human, Pair 8 MH - DNA Probes MH - Female MH - Humans MH - Leukemia, Myeloid/*genetics MH - Leukemia, Myelomonocytic, Chronic/genetics MH - Male MH - Middle Aged MH - Myelodysplastic Syndromes/*genetics MH - Myeloproliferative Disorders/*genetics MH - Oncogenes MH - *Trisomy EDAT- 2003/01/29 04:00 MHDA- 2003/03/04 04:00 CRDT- 2003/01/29 04:00 PHST- 2003/01/29 04:00 [pubmed] PHST- 2003/03/04 04:00 [medline] PHST- 2003/01/29 04:00 [entrez] AID - S0165460802006283 [pii] AID - 10.1016/s0165-4608(02)00628-3 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2003 Jan 1;140(1):66-9. doi: 10.1016/s0165-4608(02)00628-3.