De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19

Juan C. Cigudosa, Maria D. Odero, M. José Calasanz, Francesc Solé, Marta Salido, Eva Arranz, Angel Martínez-Ramirez, Miguel Urioste, Sara Alvarez, Jose V. Cervera, Donald MacGrogan, Miguel A. Sanz, Stephen D Nimer, Javier Benitez

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

Erythroid leukemia (ERL or AML-M6) is an uncommon subtype of acute myeloid leukemia, the clinical, morphological, and genetic behavior of which needs further characterization. We analyzed a homogeneous group of 23 de novo AML-M6 patients whose bone marrow cells showed complex karyotypes. We also analyzed eight leukemia cell lines with erythroid phenotype, performing detailed molecular cytogenetic analyses, including spectral karyotyping (SKY) in all samples. The main features are: (1) A majority of patients (56%) had hypodiploidy. Loss of genetic material was the most common genetic change, especially monosomies of chromosome 7 or 18, and deletions of chromosome arm 5q. Taken together, 87% of the cases displayed aberrations involving chromosome 5 or 8. (2) We describe a novel, cryptic, and recurrent translocation, t(11;19)(p11.2;q13.1). Another translocation, t(12;21)(p11.2;q11.2), was found to be recurrent in a patient with ERL and in the K562 cell line. (3) MLL gene rearrangements were detected in 20% of cases (three translocations and three amplifications) and, overall, we defined 52 rearrangements (excluding deletions) with a mean of 2.3 translocations per patient. (4) Of the structural aberrations, 21% involved chromosomes 11 and 19. Most of the rearrangements were unbalanced; only 13 reciprocal translocations were observed. The general picture of chromosomal aberrations in cell lines did not reflect what occurred in patient samples. However, both primary samples and cell lines shared three common breakpoints at 19q13.1, 20q11.2, and 21q11.2. This is the first molecular cytogenetic description of the karyotype abnormalities present in patients with ERL. It should assist in the identification of genes involved in erythroleukemogenesis.

Original languageEnglish
Pages (from-to)406-412
Number of pages7
JournalGenes Chromosomes and Cancer
Volume36
Issue number4
DOIs
StatePublished - Apr 1 2003
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 19
Leukemia, Erythroblastic, Acute
Chromosomes, Human, Pair 11
Chromosomes
Cell Line
Karyotype
Leukemia
Spectral Karyotyping
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 8
Chromosome Deletion
Chromosomes, Human, Pair 5
K562 Cells
Gene Rearrangement
Cytogenetic Analysis
Acute Myeloid Leukemia
Cytogenetics
Chromosome Aberrations
Bone Marrow Cells
Genes

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Cigudosa, J. C., Odero, M. D., Calasanz, M. J., Solé, F., Salido, M., Arranz, E., ... Benitez, J. (2003). De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19. Genes Chromosomes and Cancer, 36(4), 406-412. https://doi.org/10.1002/gcc.10180

De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19. / Cigudosa, Juan C.; Odero, Maria D.; Calasanz, M. José; Solé, Francesc; Salido, Marta; Arranz, Eva; Martínez-Ramirez, Angel; Urioste, Miguel; Alvarez, Sara; Cervera, Jose V.; MacGrogan, Donald; Sanz, Miguel A.; Nimer, Stephen D; Benitez, Javier.

In: Genes Chromosomes and Cancer, Vol. 36, No. 4, 01.04.2003, p. 406-412.

Research output: Contribution to journalArticle

Cigudosa, JC, Odero, MD, Calasanz, MJ, Solé, F, Salido, M, Arranz, E, Martínez-Ramirez, A, Urioste, M, Alvarez, S, Cervera, JV, MacGrogan, D, Sanz, MA, Nimer, SD & Benitez, J 2003, 'De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19', Genes Chromosomes and Cancer, vol. 36, no. 4, pp. 406-412. https://doi.org/10.1002/gcc.10180
Cigudosa, Juan C. ; Odero, Maria D. ; Calasanz, M. José ; Solé, Francesc ; Salido, Marta ; Arranz, Eva ; Martínez-Ramirez, Angel ; Urioste, Miguel ; Alvarez, Sara ; Cervera, Jose V. ; MacGrogan, Donald ; Sanz, Miguel A. ; Nimer, Stephen D ; Benitez, Javier. / De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19. In: Genes Chromosomes and Cancer. 2003 ; Vol. 36, No. 4. pp. 406-412.
@article{8ed60f0030944b9ba2ed01c43d126f44,
title = "De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19",
abstract = "Erythroid leukemia (ERL or AML-M6) is an uncommon subtype of acute myeloid leukemia, the clinical, morphological, and genetic behavior of which needs further characterization. We analyzed a homogeneous group of 23 de novo AML-M6 patients whose bone marrow cells showed complex karyotypes. We also analyzed eight leukemia cell lines with erythroid phenotype, performing detailed molecular cytogenetic analyses, including spectral karyotyping (SKY) in all samples. The main features are: (1) A majority of patients (56{\%}) had hypodiploidy. Loss of genetic material was the most common genetic change, especially monosomies of chromosome 7 or 18, and deletions of chromosome arm 5q. Taken together, 87{\%} of the cases displayed aberrations involving chromosome 5 or 8. (2) We describe a novel, cryptic, and recurrent translocation, t(11;19)(p11.2;q13.1). Another translocation, t(12;21)(p11.2;q11.2), was found to be recurrent in a patient with ERL and in the K562 cell line. (3) MLL gene rearrangements were detected in 20{\%} of cases (three translocations and three amplifications) and, overall, we defined 52 rearrangements (excluding deletions) with a mean of 2.3 translocations per patient. (4) Of the structural aberrations, 21{\%} involved chromosomes 11 and 19. Most of the rearrangements were unbalanced; only 13 reciprocal translocations were observed. The general picture of chromosomal aberrations in cell lines did not reflect what occurred in patient samples. However, both primary samples and cell lines shared three common breakpoints at 19q13.1, 20q11.2, and 21q11.2. This is the first molecular cytogenetic description of the karyotype abnormalities present in patients with ERL. It should assist in the identification of genes involved in erythroleukemogenesis.",
author = "Cigudosa, {Juan C.} and Odero, {Maria D.} and Calasanz, {M. Jos{\'e}} and Francesc Sol{\'e} and Marta Salido and Eva Arranz and Angel Mart{\'i}nez-Ramirez and Miguel Urioste and Sara Alvarez and Cervera, {Jose V.} and Donald MacGrogan and Sanz, {Miguel A.} and Nimer, {Stephen D} and Javier Benitez",
year = "2003",
month = "4",
day = "1",
doi = "10.1002/gcc.10180",
language = "English",
volume = "36",
pages = "406--412",
journal = "Genes Chromosomes and Cancer",
issn = "1045-2257",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19

AU - Cigudosa, Juan C.

AU - Odero, Maria D.

AU - Calasanz, M. José

AU - Solé, Francesc

AU - Salido, Marta

AU - Arranz, Eva

AU - Martínez-Ramirez, Angel

AU - Urioste, Miguel

AU - Alvarez, Sara

AU - Cervera, Jose V.

AU - MacGrogan, Donald

AU - Sanz, Miguel A.

AU - Nimer, Stephen D

AU - Benitez, Javier

PY - 2003/4/1

Y1 - 2003/4/1

N2 - Erythroid leukemia (ERL or AML-M6) is an uncommon subtype of acute myeloid leukemia, the clinical, morphological, and genetic behavior of which needs further characterization. We analyzed a homogeneous group of 23 de novo AML-M6 patients whose bone marrow cells showed complex karyotypes. We also analyzed eight leukemia cell lines with erythroid phenotype, performing detailed molecular cytogenetic analyses, including spectral karyotyping (SKY) in all samples. The main features are: (1) A majority of patients (56%) had hypodiploidy. Loss of genetic material was the most common genetic change, especially monosomies of chromosome 7 or 18, and deletions of chromosome arm 5q. Taken together, 87% of the cases displayed aberrations involving chromosome 5 or 8. (2) We describe a novel, cryptic, and recurrent translocation, t(11;19)(p11.2;q13.1). Another translocation, t(12;21)(p11.2;q11.2), was found to be recurrent in a patient with ERL and in the K562 cell line. (3) MLL gene rearrangements were detected in 20% of cases (three translocations and three amplifications) and, overall, we defined 52 rearrangements (excluding deletions) with a mean of 2.3 translocations per patient. (4) Of the structural aberrations, 21% involved chromosomes 11 and 19. Most of the rearrangements were unbalanced; only 13 reciprocal translocations were observed. The general picture of chromosomal aberrations in cell lines did not reflect what occurred in patient samples. However, both primary samples and cell lines shared three common breakpoints at 19q13.1, 20q11.2, and 21q11.2. This is the first molecular cytogenetic description of the karyotype abnormalities present in patients with ERL. It should assist in the identification of genes involved in erythroleukemogenesis.

AB - Erythroid leukemia (ERL or AML-M6) is an uncommon subtype of acute myeloid leukemia, the clinical, morphological, and genetic behavior of which needs further characterization. We analyzed a homogeneous group of 23 de novo AML-M6 patients whose bone marrow cells showed complex karyotypes. We also analyzed eight leukemia cell lines with erythroid phenotype, performing detailed molecular cytogenetic analyses, including spectral karyotyping (SKY) in all samples. The main features are: (1) A majority of patients (56%) had hypodiploidy. Loss of genetic material was the most common genetic change, especially monosomies of chromosome 7 or 18, and deletions of chromosome arm 5q. Taken together, 87% of the cases displayed aberrations involving chromosome 5 or 8. (2) We describe a novel, cryptic, and recurrent translocation, t(11;19)(p11.2;q13.1). Another translocation, t(12;21)(p11.2;q11.2), was found to be recurrent in a patient with ERL and in the K562 cell line. (3) MLL gene rearrangements were detected in 20% of cases (three translocations and three amplifications) and, overall, we defined 52 rearrangements (excluding deletions) with a mean of 2.3 translocations per patient. (4) Of the structural aberrations, 21% involved chromosomes 11 and 19. Most of the rearrangements were unbalanced; only 13 reciprocal translocations were observed. The general picture of chromosomal aberrations in cell lines did not reflect what occurred in patient samples. However, both primary samples and cell lines shared three common breakpoints at 19q13.1, 20q11.2, and 21q11.2. This is the first molecular cytogenetic description of the karyotype abnormalities present in patients with ERL. It should assist in the identification of genes involved in erythroleukemogenesis.

UR - http://www.scopus.com/inward/record.url?scp=0037375909&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037375909&partnerID=8YFLogxK

U2 - 10.1002/gcc.10180

DO - 10.1002/gcc.10180

M3 - Article

C2 - 12619165

AN - SCOPUS:0037375909

VL - 36

SP - 406

EP - 412

JO - Genes Chromosomes and Cancer

JF - Genes Chromosomes and Cancer

SN - 1045-2257

IS - 4

ER -