<i>PML‐RARA</i>
            fusion transcripts in irradiated and normal hematopoietic cells

Quina, Ana Sofia; Gameiro, Paula; Costa, M Sá da; Telhada, Margarida; Parreira, Leonor

doi:10.1002/1098-2264(2000)9999:9999<::aid-gcc1030>3.0.co;2-#

Cited by 26 publications

(24 citation statements)

References 39 publications

(37 reference statements)

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“…This possibility finds support in reports of leukemia-associated fusion transcripts in normal hematopoietic cells. 36,[62][63][64] If, on the other hand, other physiologic mechanisms are to be held responsible for this symbiosis, 65 and these cells have the genetic make-up to potentially cause relapse, then these few cells truly represent MRD with potential therapeutic consequences.…”

Section: Curesupporting

confidence: 83%

Assessing minimal residual disease (MRD) in leukemia: a changing definition and concept?

Paietta

2002

Bone Marrow Transplant

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Section: Curesupporting

confidence: 83%

Assessing minimal residual disease (MRD) in leukemia: a changing definition and concept?

Paietta

2002

Bone Marrow Transplant

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“…The positive samples, from an exposed individual and an unexposed control, were confirmed by nested PCR ( Figure 1 ). This is only the second report of the presence of t(15;17) in healthy volunteers ( 8 ). No individuals were positive for t(8;21).…”

Section: Resultsmentioning

confidence: 64%

“…As benzene is thought to act by producing chromosomal aberrations and altered cell differentiation ( 3 ), we investigated the possibility of using circulating levels of two acute myeloid leukemia (AML) -associated translocations, t(8;21) ( 4 ) and t(15;17) ( 5 ), and a follicular lymphoma -associated translocation, t(14;18) ( 6 ), as biomarkers of early effect for benzene. Evidence for the occurrence of these translocations in normal individuals is limited, with t(8;21) detected in 1 in 496 cord blood samples ( 7 ) and t(15;17) detected in healthy volunteers ( 8 ). As recently reviewed ( 9 ), the prevalence of t (14;18) in peripheral blood lymphocytes of healthy donors is relatively high at ~ 50% (range 8% -80% depending on the polymerase chain reaction (PCR) methodology employed and target cell population) ( 9 -13 ) and rises with smoking ( 14 ), but the correlation between frequency and age remains unclear ( 13 , 15 ).…”

mentioning

confidence: 99%

Chromosome Translocations in Workers Exposed to Benzene

McHale

Lan²,

Corso³

et al. 2008

JNCI Monographs

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Epidemiological studies indicate that benzene exposure is associated with an increased risk of human leukemia and lymphoma ( 1 , 2 ). Chromosomal translocations are thought to be initiating events in leukemia and lymphoma, and specific translocations are used as markers of diagnosis, disease progression, and relapse. As benzene is thought to act by producing chromosomal aberrations and altered cell differentiation ( 3 ), we investigated the possibility of using circulating levels of two acute myeloid leukemia (AML) -associated translocations, t(8;21) ( 4 ) and t(15;17) ( 5 ), and a follicular lymphoma -associated translocation, t(14;18) ( 6 ), as biomarkers of early effect for benzene. Evidence for the occurrence of these translocations in normal individuals is limited, with t(8;21) detected in 1 in 496 cord blood samples ( 7 ) and t(15;17) detected in healthy volunteers ( 8 ). As recently reviewed ( 9 ), the prevalence of t(14;18) in peripheral blood lymphocytes of healthy donors is relatively high at ~ 50% (range 8% -80% depending on the polymerase chain reaction (PCR) methodology employed and target cell population) ( 9 -13 ) and rises with smoking ( 14 ), but the correlation between frequency and age remains unclear ( 13 , 15 ). The biological consequences of these aberrations in healthy individuals are yet to be understood. One possibility is that the frequency of translocationpositive cells represents a biomarker of early effect for hematopoietic carcinogens which could correlate with the cumulative risk of developing t(14;18)-related follicular lymphoma and t(8;21)-and t(15;17)-related AML, and perhaps other cancers.The two principal technologies for detection of specifi c chromosome translocations are fl uorescence in situ hybridization (FISH) and real-time PCR. FISH distinguishes individual chromosomes by hybridization with sequence-specifi c, chromosomepainting probes labeled with spectrally nonoverlapping fl uorophores. In real-time quantitative PCR (qPCR), a fl uorescently labeled probe is hybridized to the amplifi cation target, and fl uorescent signal proportional to the input DNA/cDNA is generated during amplifi cation, thereby allowing quantifi cation. qPCR assays the whole peripheral blood mononuclear cell (PBMC) population in G 0 , whereas FISH examines a culture-modifi ed popula tion [consisting of mainly mature T lymphocytes stimulated by the mitogen phytohemagglutinin that have gone through two cell divi sions ( 16 )]. The two methods also generate different estimates of t(14;18) translocation levels with FISH detecting all possible t(14;18) breakpoints and the real-time assay described here only detecting breakpoints occurring in the major breakpoint region (MBR) of the BCL-2 gene. Although it was previously thought that the majority of BCL-2 breakpoints occur in the MBR ( 17 ), it has been shown more recently that many breakpoints occur outside of the MBR and the minor cluster region ( 18 ). The ability of FISH to detect more translocation breakpoints is offset by its lower relative sensit...

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“…Afterwards, Bose et al (1998) confirmed these data demonstrating p190 and p210 transcripts in 4 of 11 and 11 of 16 individuals, respectively. Other markers have also been detected at low frequencies in normal populations, such as ETV6/RUNX1 (Eguchi-Ishimae et al, 2001;Brassesco et al, 2004), t(11;14) (p13;q11) LMO2/TCR and t(7;14)(q34;q11) TCR/TAL2 (Marculescu et al, 2002) and t(15;17) PML/RARA, characteristic of promyelocytic leukemia (Quina et al, 2000). Regarding the MLL aberrations, several studies have demonstrated the presence of in tandem partial duplications in almost 100% of bone marrow and peripheral blood samples from healthy donors (Schnittger et al, 1998;Bäsecke et al, 2002Bäsecke et al, , 2006.…”

Section: Introductionmentioning

confidence: 99%

ReviewLeukemia/lymphoma-associated gene fusions in normal individuals

Ms¹

2008

Genet. Mol. Res.

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ABSTRACT. Hematopoietic neoplasias are characterized by recurrent chromosomal aberrations that result in the formation of gene fusions and the subsequent expression of chimeric proteins with unique properties. However, in recent years, different lymphoma/leukemia-associated rearrangements, such as BCR/ABL, IGH/BCL2, ETV6/RUNX1 and MLL duplications, have been detected in healthy individuals. The presence of these rearrangements indicates that such translocations can be generated in normal hematopoietic cells without apparent oncogenic consequences. This article reviews and discusses the data available in the literature.

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PML‐RARA fusion transcripts in irradiated and normal hematopoietic cells

Cited by 26 publications

References 39 publications

Assessing minimal residual disease (MRD) in leukemia: a changing definition and concept?

Assessing minimal residual disease (MRD) in leukemia: a changing definition and concept?

Chromosome Translocations in Workers Exposed to Benzene

ReviewLeukemia/lymphoma-associated gene fusions in normal individuals

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