PMID- 12931223 OWN - NLM STAT- MEDLINE DCOM- 20040205 LR - 20220408 IS - 0887-6924 (Print) IS - 0887-6924 (Linking) VI - 17 IP - 11 DP - 2003 Nov TI - Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients. PG - 2107-12 AB - Conventional cytogenetics (CC) at clinical diagnosis shows a normal karyotype in 40-60% of de novo myelodysplastic syndromes (MDSs). Fluorescence in situ hybridization (FISH) might detect occult aberrations in these patients. Therefore, we have used FISH to check 57 MDS patients who were karyo-typically normal on CC. At clinical diagnosis, FISH revealed a clonal abnormality in 18-28% interphase cells from nine patients, five of whom also presented the same defect on metaphase FISH. In five out of nine patients, the occult defect effected a change in the international prognostic scoring system (IPSS). An abnormal FISH pattern was significantly correlated with marrow blast cell percentage (P<10(-3)) and IPSS (P<10(-3)). Patients with an occult abnormality showed an overall survival and event-free survival significantly inferior in comparison to those of patients with normal FISH (P<10(-3), P<10(-3)). Death and AML progression were 15- and eight-fold more frequent in FISH abnormal patients. In conclusion, occult defects (1) are revealed in about 15% of CC normal MDS patients, (2) are overlooked by CC either because of the poor quality of metaphases or their submicroscopic nature, (3) are clinically relevant as they may cause a change in the IPSS category and may identify a fraction of CC normal patients with an unfavorable clinical outcome. FAU - Bernasconi, P AU - Bernasconi P AD - Division of Hematology, Policlinico San Matteo IRCCS, University of Pavia, Italy. FAU - Cavigliano, P M AU - Cavigliano PM FAU - Boni, M AU - Boni M FAU - Calatroni, S AU - Calatroni S FAU - Klersy, C AU - Klersy C FAU - Giardini, I AU - Giardini I FAU - Rocca, B AU - Rocca B FAU - Crosetto, N AU - Crosetto N FAU - Caresana, M AU - Caresana M FAU - Lazzarino, M AU - Lazzarino M FAU - Bernasconi, C AU - Bernasconi C LA - eng PT - Journal Article PL - England TA - Leukemia JT - Leukemia JID - 8704895 SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - *Chromosome Aberrations MH - *Chromosome Mapping MH - Disease Progression MH - Female MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Middle Aged MH - Myelodysplastic Syndromes/*genetics/therapy MH - Prognosis MH - Proportional Hazards Models MH - Reference Values MH - Treatment Outcome EDAT- 2003/08/22 05:00 MHDA- 2004/02/06 05:00 CRDT- 2003/08/22 05:00 PHST- 2003/08/22 05:00 [pubmed] PHST- 2004/02/06 05:00 [medline] PHST- 2003/08/22 05:00 [entrez] AID - 2403108 [pii] AID - 10.1038/sj.leu.2403108 [doi] PST - ppublish SO - Leukemia. 2003 Nov;17(11):2107-12. doi: 10.1038/sj.leu.2403108.