PMID- 8547133 OWN - NLM STAT- MEDLINE DCOM- 19960220 LR - 20190705 IS - 0007-1048 (Print) IS - 0007-1048 (Linking) VI - 91 IP - 4 DP - 1995 Dec TI - Combined cytogenetic, FISH and molecular analysis in acute promyelocytic leukaemia at diagnosis and in complete remission. PG - 878-84 AB - This study reports the results of a simultaneous application of cytogenetic fluorescence in situ hybridization (FISH) and molecular analysis (RT-PCR) in 28 APL cases (23 M3 and five M3v; 26 studied at diagnosis and two at relapse). FISH on metaphases identified the t(15;17) in all cases who were positive for the PML/RAR alpha transcript by RT-PCR. Conventional cytogenetics revealed the t(15;17) in only 68% of cases. However, it enabled the detection of additional chromosome changes in five cases, three of whom were M3v. 11 patients were also investigated during complete remission (CR) by both FISH and RT-PCR, in order to evaluate residual disease; the duration of CR at the time of analysis ranged between 1 and 16 months, with three patients being studied twice. Comparison of RT-PCR and FISH results showed a very good correlation. In fact, of the 10 samples which were RT-PCR positive for residual disease, all were also recognized by interphase FISH, and eight were positive by metaphase FISH. Of the three samples negative at RT-PCR, all were also negative at the interphase FISH. The results of this study indicate that: (a) the t(15;17) is present in all cases positive for the PML/RAR alpha rearrangement, thus in virtually all true APLs; (b) standard cytogenetics, capable of unravelling the t(15;17) in only 68% of cases, enables recognition of additional chromosome changes of potential clinical and prognostic significance; (c) FISH on interphase nuclei is a reliable tool for the monitoring of residual disease, with a sensitivity greater than that of FISH on metaphase cells and superimposable to that of RT-PCR. FAU - Mancini, M AU - Mancini M AD - Department of Human Biopathology, University of Rome La Sapienza, Italy. FAU - Nanni, M AU - Nanni M FAU - Cedrone, M AU - Cedrone M FAU - Diverio, D AU - Diverio D FAU - Avvisati, G AU - Avvisati G FAU - Riccioni, R AU - Riccioni R FAU - De Cuia, M R AU - De Cuia MR FAU - Fenu, S AU - Fenu S FAU - Alimena, G AU - Alimena G LA - eng PT - Clinical Trial PT - Comparative Study PT - Journal Article PL - England TA - Br J Haematol JT - British journal of haematology JID - 0372544 RN - 0 (Genetic Markers) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Child MH - Child, Preschool MH - Chromosome Banding MH - Chromosomes, Human, Pair 15 MH - Chromosomes, Human, Pair 17 MH - Female MH - Genetic Markers MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Leukemia, Promyelocytic, Acute/*diagnosis/genetics/pathology MH - Male MH - Middle Aged MH - Neoplasm, Residual MH - Polymerase Chain Reaction MH - Prognosis MH - Sensitivity and Specificity MH - *Translocation, Genetic EDAT- 1995/12/01 00:00 MHDA- 1995/12/01 00:01 CRDT- 1995/12/01 00:00 PHST- 1995/12/01 00:00 [pubmed] PHST- 1995/12/01 00:01 [medline] PHST- 1995/12/01 00:00 [entrez] AID - 10.1111/j.1365-2141.1995.tb05404.x [doi] PST - ppublish SO - Br J Haematol. 1995 Dec;91(4):878-84. doi: 10.1111/j.1365-2141.1995.tb05404.x.