Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia

Roberta La Starza, Maurizio Trubia, Nicoletta Testoni, Emanuela Ottaviani, Elena Belloni, Barbara Crescenzi, Massimo F. Martelli, Georges Flandrin, Pier Giuseppe Pelicci, Cristina Mecucci

Research output: Contribution to journalArticle

Abstract

Background and Objectives. The ETV6 gene undergoes rearrangements with tyrosine kinases in hematologic malignancies and solid tumors. ETV6/ABL1 chimeric proteins have been detected both in lymphoid and myeloid disorders. Our objective was to study two new cases of ETV6/ABL1-positive acute myeloid leukemia (AML) and to focus on bone marrow morphology and on molecular cytogenetics of eosinophilic cells. Design and Methods. Fluorescence in situ hybridization (FISH) was performed in two AML cases with different translocations, i.e. t(8;12)(p21;p13) and t(9;12) (q34; p13). We used probes for the short arm of chromosome 12, for ABL1 and BCR, for centromeric regions, and for whole chromosome arms. Polymerase chain reaction (PCR) was carried out by applying primers selected for the ETV6 gene. Results. In both cases, bone marrow morphology was characterized by trilineage dysplasia and increased abnormal eosinophils. FISH showed the 5′ETV6 translocated to chromosome 8 in patient #1, and to chromosome 9 in patient #2. A 3′ PCR identified chimeric products resulting from fusion between ETV6 exon 4 or exon 5, and ABL1 exon 2. Accordingly, an ETV6/ABL1 fusion signal was detected on der(8) in patient #1, and on der(9) in patient #2. Using interphase FISH abnormal bone marrow eosinophils were proved to belong to the neoplastic clone, carrying the ETV6 rearrangement. Interpretation and Conclusions. Our findings provide new information on the heterogeneity of conventional cytogenetics in ETV6/ABL1 positive leukemias, and indicate the putative target cell in this AML is an immature precursor capable of terminally differentiating towards eosinophils.

Original languageEnglish
Pages (from-to)789-794
Number of pages6
JournalHaematologica
Volume87
Issue number8
Publication statusPublished - 2002

Fingerprint

Eosinophils
Acute Myeloid Leukemia
Fluorescence In Situ Hybridization
Exons
Bone Marrow
Cytogenetics
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 8
Polymerase Chain Reaction
Chromosomes, Human, Pair 9
Gene Rearrangement
Interphase
Hematologic Neoplasms
Protein-Tyrosine Kinases
Leukemia
Clone Cells
Chromosomes
Genes
Neoplasms
Proteins

Keywords

  • Acute myeloid leukemia
  • ETV6/ABL1 rearrangement

ASJC Scopus subject areas

  • Hematology

Cite this

La Starza, R., Trubia, M., Testoni, N., Ottaviani, E., Belloni, E., Crescenzi, B., ... Mecucci, C. (2002). Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia. Haematologica, 87(8), 789-794.

Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia. / La Starza, Roberta; Trubia, Maurizio; Testoni, Nicoletta; Ottaviani, Emanuela; Belloni, Elena; Crescenzi, Barbara; Martelli, Massimo F.; Flandrin, Georges; Giuseppe Pelicci, Pier; Mecucci, Cristina.

In: Haematologica, Vol. 87, No. 8, 2002, p. 789-794.

Research output: Contribution to journalArticle

La Starza, R, Trubia, M, Testoni, N, Ottaviani, E, Belloni, E, Crescenzi, B, Martelli, MF, Flandrin, G, Giuseppe Pelicci, P & Mecucci, C 2002, 'Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia', Haematologica, vol. 87, no. 8, pp. 789-794.
La Starza R, Trubia M, Testoni N, Ottaviani E, Belloni E, Crescenzi B et al. Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia. Haematologica. 2002;87(8):789-794.
La Starza, Roberta ; Trubia, Maurizio ; Testoni, Nicoletta ; Ottaviani, Emanuela ; Belloni, Elena ; Crescenzi, Barbara ; Martelli, Massimo F. ; Flandrin, Georges ; Giuseppe Pelicci, Pier ; Mecucci, Cristina. / Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia. In: Haematologica. 2002 ; Vol. 87, No. 8. pp. 789-794.
@article{8afc998fa328464a94b7f2388b14ccad,
title = "Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia",
abstract = "Background and Objectives. The ETV6 gene undergoes rearrangements with tyrosine kinases in hematologic malignancies and solid tumors. ETV6/ABL1 chimeric proteins have been detected both in lymphoid and myeloid disorders. Our objective was to study two new cases of ETV6/ABL1-positive acute myeloid leukemia (AML) and to focus on bone marrow morphology and on molecular cytogenetics of eosinophilic cells. Design and Methods. Fluorescence in situ hybridization (FISH) was performed in two AML cases with different translocations, i.e. t(8;12)(p21;p13) and t(9;12) (q34; p13). We used probes for the short arm of chromosome 12, for ABL1 and BCR, for centromeric regions, and for whole chromosome arms. Polymerase chain reaction (PCR) was carried out by applying primers selected for the ETV6 gene. Results. In both cases, bone marrow morphology was characterized by trilineage dysplasia and increased abnormal eosinophils. FISH showed the 5′ETV6 translocated to chromosome 8 in patient #1, and to chromosome 9 in patient #2. A 3′ PCR identified chimeric products resulting from fusion between ETV6 exon 4 or exon 5, and ABL1 exon 2. Accordingly, an ETV6/ABL1 fusion signal was detected on der(8) in patient #1, and on der(9) in patient #2. Using interphase FISH abnormal bone marrow eosinophils were proved to belong to the neoplastic clone, carrying the ETV6 rearrangement. Interpretation and Conclusions. Our findings provide new information on the heterogeneity of conventional cytogenetics in ETV6/ABL1 positive leukemias, and indicate the putative target cell in this AML is an immature precursor capable of terminally differentiating towards eosinophils.",
keywords = "Acute myeloid leukemia, ETV6/ABL1 rearrangement",
author = "{La Starza}, Roberta and Maurizio Trubia and Nicoletta Testoni and Emanuela Ottaviani and Elena Belloni and Barbara Crescenzi and Martelli, {Massimo F.} and Georges Flandrin and {Giuseppe Pelicci}, Pier and Cristina Mecucci",
year = "2002",
language = "English",
volume = "87",
pages = "789--794",
journal = "Haematologica",
issn = "0390-6078",
publisher = "NLM (Medline)",
number = "8",

}

TY - JOUR

T1 - Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia

AU - La Starza, Roberta

AU - Trubia, Maurizio

AU - Testoni, Nicoletta

AU - Ottaviani, Emanuela

AU - Belloni, Elena

AU - Crescenzi, Barbara

AU - Martelli, Massimo F.

AU - Flandrin, Georges

AU - Giuseppe Pelicci, Pier

AU - Mecucci, Cristina

PY - 2002

Y1 - 2002

N2 - Background and Objectives. The ETV6 gene undergoes rearrangements with tyrosine kinases in hematologic malignancies and solid tumors. ETV6/ABL1 chimeric proteins have been detected both in lymphoid and myeloid disorders. Our objective was to study two new cases of ETV6/ABL1-positive acute myeloid leukemia (AML) and to focus on bone marrow morphology and on molecular cytogenetics of eosinophilic cells. Design and Methods. Fluorescence in situ hybridization (FISH) was performed in two AML cases with different translocations, i.e. t(8;12)(p21;p13) and t(9;12) (q34; p13). We used probes for the short arm of chromosome 12, for ABL1 and BCR, for centromeric regions, and for whole chromosome arms. Polymerase chain reaction (PCR) was carried out by applying primers selected for the ETV6 gene. Results. In both cases, bone marrow morphology was characterized by trilineage dysplasia and increased abnormal eosinophils. FISH showed the 5′ETV6 translocated to chromosome 8 in patient #1, and to chromosome 9 in patient #2. A 3′ PCR identified chimeric products resulting from fusion between ETV6 exon 4 or exon 5, and ABL1 exon 2. Accordingly, an ETV6/ABL1 fusion signal was detected on der(8) in patient #1, and on der(9) in patient #2. Using interphase FISH abnormal bone marrow eosinophils were proved to belong to the neoplastic clone, carrying the ETV6 rearrangement. Interpretation and Conclusions. Our findings provide new information on the heterogeneity of conventional cytogenetics in ETV6/ABL1 positive leukemias, and indicate the putative target cell in this AML is an immature precursor capable of terminally differentiating towards eosinophils.

AB - Background and Objectives. The ETV6 gene undergoes rearrangements with tyrosine kinases in hematologic malignancies and solid tumors. ETV6/ABL1 chimeric proteins have been detected both in lymphoid and myeloid disorders. Our objective was to study two new cases of ETV6/ABL1-positive acute myeloid leukemia (AML) and to focus on bone marrow morphology and on molecular cytogenetics of eosinophilic cells. Design and Methods. Fluorescence in situ hybridization (FISH) was performed in two AML cases with different translocations, i.e. t(8;12)(p21;p13) and t(9;12) (q34; p13). We used probes for the short arm of chromosome 12, for ABL1 and BCR, for centromeric regions, and for whole chromosome arms. Polymerase chain reaction (PCR) was carried out by applying primers selected for the ETV6 gene. Results. In both cases, bone marrow morphology was characterized by trilineage dysplasia and increased abnormal eosinophils. FISH showed the 5′ETV6 translocated to chromosome 8 in patient #1, and to chromosome 9 in patient #2. A 3′ PCR identified chimeric products resulting from fusion between ETV6 exon 4 or exon 5, and ABL1 exon 2. Accordingly, an ETV6/ABL1 fusion signal was detected on der(8) in patient #1, and on der(9) in patient #2. Using interphase FISH abnormal bone marrow eosinophils were proved to belong to the neoplastic clone, carrying the ETV6 rearrangement. Interpretation and Conclusions. Our findings provide new information on the heterogeneity of conventional cytogenetics in ETV6/ABL1 positive leukemias, and indicate the putative target cell in this AML is an immature precursor capable of terminally differentiating towards eosinophils.

KW - Acute myeloid leukemia

KW - ETV6/ABL1 rearrangement

UR - http://www.scopus.com/inward/record.url?scp=0035986747&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035986747&partnerID=8YFLogxK

M3 - Article

C2 - 12161353

AN - SCOPUS:0035986747

VL - 87

SP - 789

EP - 794

JO - Haematologica

JF - Haematologica

SN - 0390-6078

IS - 8

ER -