AIMS: Chronic lymphocytic leukemia (CLL) is the most common adult leukemia with a very heterogeneous course. Progress in molecular genetic characterization of CLL has confirmed the prognostic role of unbalanced chromosomal abnormalities currently defined by molecular cytogenetic methods: conventional karyotyping and FISH. However, a significant percentage of genomic abnormalities escapes routine investigation due to the limitations of these methods. It is presently clear that some of these aberrations have impact on prognosis and disease progression. METHODS: We examined copy number changes in the tumor genomes of 50 CLL patients using bacterial artificial chromosome (BAC) and/or oligonucleotide array platforms. We compared the results of arrayCGH with those obtained by FISH and conventional cytogenetics and evaluated their clinical importance. RESULTS: A total of 111 copy number changes were detected in 43 patients (86%) with clonal abnormalities present in at least 23% of the cells. Moreover, 14 patients (28%) were found to have 39 genomic changes that had not been detected by standard cytogenetic and/or FISH analyses. These included possibly prognostically important recurrent 2p and 8q24 gains. The most frequent unbalanced changes involved chromosomes 18, 7, 3, 9 and 17. We also determined the minimal deleted region on chromosome 6q in 7 cases by chromosome 6/7 specific array. CONCLUSIONS: The results showed that a subset of potentially significant genomic aberrations in CLL is being missed by the current routine techniques. Further, we clearly demonstrated the robustness, high sensitivity and specificity of the arrayCGH analysis as well as its potential for use in routine screening of CLL.
AIMS: Chronic lymphocytic leukemia (CLL) is the most common adult leukemia with a very heterogeneous course. Progress in molecular genetic characterization of CLL has confirmed the prognostic role of unbalanced chromosomal abnormalities currently defined by molecular cytogenetic methods: conventional karyotyping and FISH. However, a significant percentage of genomic abnormalities escapes routine investigation due to the limitations of these methods. It is presently clear that some of these aberrations have impact on prognosis and disease progression. METHODS: We examined copy number changes in the tumor genomes of 50 CLL patients using bacterial artificial chromosome (BAC) and/or oligonucleotide array platforms. We compared the results of arrayCGH with those obtained by FISH and conventional cytogenetics and evaluated their clinical importance. RESULTS: A total of 111 copy number changes were detected in 43 patients (86%) with clonal abnormalities present in at least 23% of the cells. Moreover, 14 patients (28%) were found to have 39 genomic changes that had not been detected by standard cytogenetic and/or FISH analyses. These included possibly prognostically important recurrent 2p and 8q24 gains. The most frequent unbalanced changes involved chromosomes 18, 7, 3, 9 and 17. We also determined the minimal deleted region on chromosome 6q in 7 cases by chromosome 6/7 specific array. CONCLUSIONS: The results showed that a subset of potentially significant genomic aberrations in CLL is being missed by the current routine techniques. Further, we clearly demonstrated the robustness, high sensitivity and specificity of the arrayCGH analysis as well as its potential for use in routine screening of CLL.
Authors: Marian Jpl Stevens-Kroef; Eva van den Berg; Daniel Olde Weghuis; Ad Geurts van Kessel; Rolph Pfundt; Matty Linssen-Wiersma; Marloes Benjamins; Trijnie Dijkhuizen; Patricia Jta Groenen; Annet Simons Journal: Mol Cytogenet Date: 2014-01-09 Impact factor: 2.009
Authors: Anna Puiggros; Silvia Ramos-Campoy; Joanna Kamaso; Mireia de la Rosa; Marta Salido; Carme Melero; María Rodríguez-Rivera; Sandrine Bougeon; Rosa Collado; Eva Gimeno; Rocío García-Serra; Sara Alonso; Marco Antonio Moro-García; María Dolores García-Malo; Xavier Calvo; Leonor Arenillas; Ana Ferrer; Tuomo Mantere; Alexander Hoischen; Jacqueline Schoumans; Blanca Espinet Journal: Cancers (Basel) Date: 2022-07-11 Impact factor: 6.575
Authors: Ina Amarillo; Peter H Bui; Sibel Kantarci; Nagesh Rao; Brit S Shackley; Rolando García; Carlos A Tirado Journal: Mol Cytogenet Date: 2013-02-01 Impact factor: 2.009
Authors: Silvia Ramos-Campoy; Anna Puiggros; Sílvia Beà; Sandrine Bougeon; María José Larráyoz; Dolors Costa; Helen Parker; Gian Matteo Rigolin; Margarita Ortega; María Laura Blanco; Rosa Collado; Rocío Salgado; Tycho Baumann; Eva Gimeno; Carolina Moreno; Francesc Bosch; Xavier Calvo; María José Calasanz; Antonio Cuneo; Jonathan C Strefford; Florence Nguyen-Khac; David Oscier; Claudia Haferlach; Jacqueline Schoumans; Blanca Espinet Journal: Haematologica Date: 2022-03-01 Impact factor: 9.941