PMID- 12161353
OWN - NLM
STAT- MEDLINE
DCOM- 20021217
LR  - 20091119
IS  - 0390-6078 (Print)
IS  - 0390-6078 (Linking)
VI  - 87
IP  - 8
DP  - 2002 Aug
TI  - Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid 
      leukemia.
PG  - 789-94
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.
FAU - La Starza, Roberta
AU  - La Starza R
AD  - Hematology and Bone Marrow Transplantation Unit, Policlinico Monteluce, 
      University of Perugia, via Brunamonti, 06122 Perugia, Italy.
FAU - Trubia, Maurizio
AU  - Trubia M
FAU - Testoni, Nicoletta
AU  - Testoni N
FAU - Ottaviani, Emanuela
AU  - Ottaviani E
FAU - Belloni, Elena
AU  - Belloni E
FAU - Crescenzi, Barbara
AU  - Crescenzi B
FAU - Martelli, Massimo
AU  - Martelli M
FAU - Flandrin, Georges
AU  - Flandrin G
FAU - Pelicci, Pier Giuseppe
AU  - Pelicci PG
FAU - Mecucci, Cristina
AU  - Mecucci C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - Haematologica
JT  - Haematologica
JID - 0417435
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA, Messenger)
RN  - 0 (RNA, Neoplasm)
RN  - 0 (TEL-ABL fusion protein, human)
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
SB  - IM
CIN - Haematologica. 2002 Aug;87(8):785-6. PMID: 12161349
MH  - Adult
MH  - Anemia, Refractory, with Excess of Blasts/complications
MH  - Bone Marrow/pathology
MH  - Cell Lineage
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 12/*genetics/ultrastructure
MH  - Chromosomes, Human, Pair 8/genetics/ultrastructure
MH  - Chromosomes, Human, Pair 9/genetics/ultrastructure
MH  - Clone Cells/enzymology/pathology
MH  - Eosinophilia/etiology/genetics/*pathology
MH  - Eosinophils/enzymology/*pathology
MH  - Genes, abl
MH  - Genetic Heterogeneity
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myeloid, Acute/*blood/complications/genetics
MH  - Male
MH  - Middle Aged
MH  - Neoplastic Stem Cells/enzymology/pathology
MH  - Oncogene Proteins, Fusion/*genetics/physiology
MH  - Protein-Tyrosine Kinases
MH  - RNA, Messenger/genetics
MH  - RNA, Neoplasm/genetics
MH  - Translocation, Genetic/*genetics
EDAT- 2002/08/06 10:00
MHDA- 2002/12/18 04:00
CRDT- 2002/08/06 10:00
PHST- 2002/08/06 10:00 [pubmed]
PHST- 2002/12/18 04:00 [medline]
PHST- 2002/08/06 10:00 [entrez]
PST - ppublish
SO  - Haematologica. 2002 Aug;87(8):789-94.