Near‐tetraploidy in childhood B‐cell precursor acute lymphoblastic leukemia is a highly specific feature of <i>ETV6/RUNX1</i>‐positive leukemic cases

Attarbaschi, Andishe; Mann, Georg; König, Margit; Steiner, Manuel; Dworzak, Michael; Gadner, Helmut; Haas, Oskar A.

doi:10.1002/gcc.20324

Cited by 22 publications

(24 citation statements)

References 15 publications

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“…These patterns of extra chromosomes are consistent with a MN of 51-67 describing high hyperdiploid cases, MN 68-79 for near-triploid cases and MN !80 for near-tetraploid cases. These results are consistent with demonstrations that near-triploid and neartetraploid ALL frequently have an ETV6/RUNX1 rearrangement (Attarbaschi et al, 2006;Raimondi et al, 2006), whereas such rearrangements are rare in high hyperdiploid ALL (Uckun et al, 2001). ETV6/RUNX1 analyses were not done in these studies.…”

Section: Discussionsupporting

confidence: 92%

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia

Heerema

Raimondi

Anderson

et al. 2007

Genes Chromosomes & Cancer

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Children with acute lymphoblastic leukemia (ALL) and high hyperdiploidy (>50 chromosomes) are considered to have a relatively good prognosis. The specific extra chromosomes are not random; extra copies of some chromosomes occur more frequently than those of others. We examined the extra chromosomes present in high hyperdiploid ALL to determine if there were a relation of the specific extra chromosomes and modal number (MN) and if the extra chromosomes present could differentiate high hyperdiploid from near-triploid and near-tetraploid cases. Karyotypes of 2,339 children with ALL and high hyperdiploidy at diagnosis showed a distinct nonrandom sequential pattern of gain for each chromosome as MN increased, with four groups of gain: chromosomes 21, X, 14, 6, 18, 4, 17, and 10 at MN 51-54; chromosomes 8, 5, 11, and 12 at MN 57-60; chromosomes 2, 3, 9,16, and 22 at MN 63-67; chromosomes 1, 7 13, 15, 19, and 20 at MN 68-79, and Y only at MN >or=80. Chromosomes gained at lower MN were retained as the MN increased. High hyperdiploid pediatric ALL results from a single abnormal mitotic division. Our results suggest that the abnormal mitosis involves specific chromosomes dependent on the number of chromosomes aberrantly distributed, raising provocative questions regarding the mitotic mechanism. The patterns of frequencies of tetrasomy of specific chromosomes differs from that of trisomies with the exception of chromosome 21, which is tetrasomic in a high frequency of cases at all MN. These results are consistent with different origins of high hyperdiploidy, near-trisomy, and near-tetrasomy.

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Section: Discussionsupporting

confidence: 92%

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia

Heerema

Raimondi

Anderson

et al. 2007

Genes Chromosomes & Cancer

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“…Originally, all cases with more than 50 chromosomes were included; thus, no distinction was made between hyperdiploid, near-triploid, and near-tetraploid ALL. Although some investigators still adhere to that tradition, it has recently become apparent that cases with chromosome numbers in the tetraploid range are genetically distinct, with the vast majority harboring the t(12;21)(p13;q22) [ETV6/RUNX1 fusion] (Attarbaschi et al, 2006;Raimondi et al, 2006). Near-tetraploid cases should hence not be part of the high hyperdiploid group.…”

Section: Definition Of the High Hyperdiploid Subgroupmentioning

confidence: 97%

High hyperdiploid childhood acute lymphoblastic leukemia

Paulsson

Johansson

2009

Genes Chromosomes & Cancer

177

183

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High hyperdiploidy (51-67 chromosomes) is the most common cytogenetic abnormality pattern in childhood B-cell precursor acute lymphoblastic leukemia (ALL), occurring in 25-30% of such cases. High hyperdiploid ALL is characterized cytogenetically by a nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18, and 21 and clinically by a favorable prognosis. Despite the high frequency of this karyotypic subgroup, many questions remain regarding the epidemiology, etiology, presence of other genetic changes, the time and cell of origin, and the formation and pathogenetic consequences of high hyperdiploidy. However, during the last few years, several studies have addressed some of these important issues, and these, as well as previous reports on high hyperdiploid childhood ALL, are reviewed herein.

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“…Flow cytometry revealed a population of blast cells that expressed CD4/8, CD10, CD7, CD2, TDT, TDT/cCD3, which was compatible with T-ALL [6]. Molecular genetic analysis by Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) excluded the presence of ETV6/RUNX1 fusion gene [7]. …”

Section: Case Presentationmentioning

confidence: 99%

An unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype

et al. 2011

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BackgroundNear-tetraploid (model #81-103) and near-triploid (model #67-81) karyotypes are found in around 1% of childhood acute lymphoblastic leukemia. Due to its rarity, these two cytogenetic subgroups are generally included in the hyperdiploid group (model # > 51). Therefore separate informations about these two subgroups are limited to a few reports. Some studies found that near-tetraploidy is relatively more frequent in higher median ages and it is associated to Frech-American-British Classification subtype L2. Although the mechanisms by which leukemic blast cells divide is still unclear, studies have suggested that hyperdiploidy, near-triploidy and near-tetraploidy do not seem to share the same mechanism.FindingsHerewith, we present a new childhood T-acute lymphoblastic leukemia case of near-tetraploid karyotype with loss of two p53-gene copies, characterized in detail by cytogenetic and molecular studies.ConclusionWe suggest that p53 is a good target gene to be screened, once p53 is one of the main effectors of cell cycle checkpoints.

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Near‐tetraploidy in childhood B‐cell precursor acute lymphoblastic leukemia is a highly specific feature of ETV6/RUNX1‐positive leukemic cases

Cited by 22 publications

References 15 publications

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia

High hyperdiploid childhood acute lymphoblastic leukemia

An unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype

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