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Prognostic significance of additional chromosome abnormalities in adult patients with Philadelphia chromosome positive acute lymphoblastic leukaemia
Author(s) -
Rieder Harald,
Ludwig WolfDieter,
Gassmann Winfried,
Maurer Jürgen,
Janssen Johannes W. G.,
Gökbuget Nicola,
Schwartz Stefan,
Thiel Eckhard,
Löffler Helmut,
Bartram Claus R.,
Hoelzer Dieter,
Fonatsch Christa
Publication year - 1996
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 - 10.1046/j.1365-2141.1996.d01-1968.x
Subject(s) - monosomy , chromosomal translocation , karyotype , biology , breakpoint , chromosome , breakpoint cluster region , chromosome 7 (human) , philadelphia chromosome , cytogenetics , genetics , microbiology and biotechnology , medicine , cancer research , pathology , gene
The clinical and biological significance of additional chromosome aberrations was investigated in a large series of 66 adult patients with Philadelphia (Ph) chromosome positive acute lymphoblastic leukaemia (ALL). Additional chromosome changes were observed in 71% of the cases. 9p abnormalities were identified in 26%, and monosomy 7 as well as hyperdiploid karyotypes >50 were both found in 17% of cases. 9p anomalies were characterized by a low complete remission (CR) rate (58%) and an extremely short median remission duration (MRD; 100 d). In patients with monosomy 7, the poor treatment outcome was confirmed (CR rate 55%; MRD 113 d). In contrast, all patients with hyperdiploid karyotypes >50 achieved CR, and the overall survival was superior to all other Ph‐positive ALL patients except those without additional chromosome aberrations. Exclusive rearrangement of the minor breakpoint cluster region of the BCR gene and lack of coexpression of myeloid‐associated antigens in cases with 9p anomalies as well as a high frequency of rearrangements of the major breakpoint cluster region of the BCR gene in patients with monosomy 7 (89%) further substantiated that additional chromosome aberrations may characterize distinct subgroups of Ph‐positive ALL. Moreover, the necessity of the complementing use of chromosome banding analyses, polymerase chain reaction (PCR) assays, and fluorescence in situ hybridizations in the accurate identification of Ph‐positive patients has become evident due to variant Ph translocations in 3%, and negative PCR assays in 4% of the cases.