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Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias

Andreasson, Patrik; Höglund, Mattias LU ; Békássy, Albert LU ; Garwicz, Stanislaw LU ; Heldrup, Jesper LU ; Mitelman, Felix LU and Johansson, Bertil LU (2000) In European Journal of Haematology 65(1). p.40-51
Abstract
Between 1977 and 1996, cytogenetic investigations were performed on 182 childhood (< or = 16 yr) acute lymphoblastic leukemias (ALL), constituting 94% (182 of 194) of all ALL patients diagnosed and treated at the Departments of Pediatrics, Lund and Malmo University Hospitals, Sweden, during these two decades. The cytogenetic analyses were successful in 152 cases (84%). The failure rate was higher for the ALL investigated before 1987 (30% vs. 4%, p < 0.0001), and also the incidence of cytogenetically normal cases was higher during 1977-86 (43% vs. 25%, p < 0.05). Clonal chromosomal abnormalities were found in 103 (68%) ALL. Structural rearrangements were detected, by chromosome banding alone, in 76 cases (50%). Fluorescence in situ... (More)
Between 1977 and 1996, cytogenetic investigations were performed on 182 childhood (< or = 16 yr) acute lymphoblastic leukemias (ALL), constituting 94% (182 of 194) of all ALL patients diagnosed and treated at the Departments of Pediatrics, Lund and Malmo University Hospitals, Sweden, during these two decades. The cytogenetic analyses were successful in 152 cases (84%). The failure rate was higher for the ALL investigated before 1987 (30% vs. 4%, p < 0.0001), and also the incidence of cytogenetically normal cases was higher during 1977-86 (43% vs. 25%, p < 0.05). Clonal chromosomal abnormalities were found in 103 (68%) ALL. Structural rearrangements were detected, by chromosome banding alone, in 76 cases (50%). Fluorescence in situ hybridization (FISH) was used to identify cases with t(12;21), 11q23 rearrangements, and 9p deletions, using probes for ETV6/CBFA2, MLL, and CDKN2A/B, in 72 cases from which cells in fixative and/or unstained metaphase preparations were available. In total, the most common structural rearrangements were del(9p) (17%), t(12;21) (15%), del(6q) (8%), and MLL rearrangements (4%). Six (32%) of nineteen cytogenetically normal ALL analyzed by FISH harbored cryptic abnormalities; three displayed t(12;21) and four had del(9p), one of which also carried a t(12;21). Five (45%) of the t(12;21)-positive ALL showed +der(21)t(12;21) or ider(21)(q10)t(12;21), resulting in the formation of double fusion genes. Among the more rare aberrations, eight structural rearrangements were identified as novel recurrent ALL-associated abnormalities, and nine cases harbored rearrangements previously not reported. Sixteen cases displayed karyotypically unrelated clones at different investigations. Seven ALL (5%) showed simple chromosomal changes, unrelated to the aberrations detected at diagnosis, during morphologic and clinical remission, and in all but one instance the patients remained in remission, with the abnormal clone disappearing in subsequent investigations. This indicates that the emergence of novel clonal chromosomal aberrations during remission in childhood ALL is rather common and does not by necessity predict a forthcoming relapse. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
cytogenetics, FISH, ETV6, CBFA2, MLL, CDKN2, childhood ALL
in
European Journal of Haematology
volume
65
issue
1
pages
40 - 51
publisher
Wiley-Blackwell
external identifiers
  • pmid:10914938
  • scopus:0033948647
ISSN
1600-0609
DOI
10.1034/j.1600-0609.2000.90190.x
language
English
LU publication?
yes
id
0f9d77c7-64b7-431e-8010-8b151f86fa7f (old id 1116539)
date added to LUP
2008-07-01 14:37:58
date last changed
2017-03-19 03:29:19
@article{0f9d77c7-64b7-431e-8010-8b151f86fa7f,
  abstract     = {Between 1977 and 1996, cytogenetic investigations were performed on 182 childhood (&lt; or = 16 yr) acute lymphoblastic leukemias (ALL), constituting 94% (182 of 194) of all ALL patients diagnosed and treated at the Departments of Pediatrics, Lund and Malmo University Hospitals, Sweden, during these two decades. The cytogenetic analyses were successful in 152 cases (84%). The failure rate was higher for the ALL investigated before 1987 (30% vs. 4%, p &lt; 0.0001), and also the incidence of cytogenetically normal cases was higher during 1977-86 (43% vs. 25%, p &lt; 0.05). Clonal chromosomal abnormalities were found in 103 (68%) ALL. Structural rearrangements were detected, by chromosome banding alone, in 76 cases (50%). Fluorescence in situ hybridization (FISH) was used to identify cases with t(12;21), 11q23 rearrangements, and 9p deletions, using probes for ETV6/CBFA2, MLL, and CDKN2A/B, in 72 cases from which cells in fixative and/or unstained metaphase preparations were available. In total, the most common structural rearrangements were del(9p) (17%), t(12;21) (15%), del(6q) (8%), and MLL rearrangements (4%). Six (32%) of nineteen cytogenetically normal ALL analyzed by FISH harbored cryptic abnormalities; three displayed t(12;21) and four had del(9p), one of which also carried a t(12;21). Five (45%) of the t(12;21)-positive ALL showed +der(21)t(12;21) or ider(21)(q10)t(12;21), resulting in the formation of double fusion genes. Among the more rare aberrations, eight structural rearrangements were identified as novel recurrent ALL-associated abnormalities, and nine cases harbored rearrangements previously not reported. Sixteen cases displayed karyotypically unrelated clones at different investigations. Seven ALL (5%) showed simple chromosomal changes, unrelated to the aberrations detected at diagnosis, during morphologic and clinical remission, and in all but one instance the patients remained in remission, with the abnormal clone disappearing in subsequent investigations. This indicates that the emergence of novel clonal chromosomal aberrations during remission in childhood ALL is rather common and does not by necessity predict a forthcoming relapse.},
  author       = {Andreasson, Patrik and Höglund, Mattias and Békássy, Albert and Garwicz, Stanislaw and Heldrup, Jesper and Mitelman, Felix and Johansson, Bertil},
  issn         = {1600-0609},
  keyword      = {cytogenetics,FISH,ETV6,CBFA2,MLL,CDKN2,childhood ALL},
  language     = {eng},
  number       = {1},
  pages        = {40--51},
  publisher    = {Wiley-Blackwell},
  series       = {European Journal of Haematology},
  title        = {Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias},
  url          = {http://dx.doi.org/10.1034/j.1600-0609.2000.90190.x},
  volume       = {65},
  year         = {2000},
}