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Combined cytogenetic, FISH and molecular analysis in acute promyelocytic leukaemia at diagnosis and in complete remission
Author(s) -
Mancini Marco,
Nanni Mauro,
Cedrone Michele,
Diverio Daniela,
Avvisati Giuseppe,
Riccioni Roberta,
Rosaria Maria,
Cuia De,
Fenu Susanna,
Alimena Giuliana
Publication year - 1995
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1995.tb05404.x
Subject(s) - fluorescence in situ hybridization , cytogenetics , metaphase , fish <actinopterygii> , biology , minimal residual disease , interphase , chromosome , karyotype , microbiology and biotechnology , medicine , pathology , genetics , leukemia , gene , fishery
Summary. 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 a 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 a 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.