Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes

Bench, Anthony J.; Nacheva, Elisabeth P.; Hood, Tracey L.; Holden, Jane L.; French, Lisa; Swanton, S; Champion, Kim; Li, Juan; Whittaker, Pamela; Stavrides, George; Hunt, A. R.; Huntly, Brian J.P.; Campbell, Lynda J.; Bentley, David; Deloukas, Panos; Green, Anthony

doi:10.1038/sj.onc.1203728

Cited by 151 publications

(124 citation statements)

References 43 publications

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“…Roulston et al 119 used multiple probes to study the deletion in 19 cases of myeloid disease and defined a commonly deleted region flanked by RPN2 (20q11.2) proximally and D20S17 (MLRG) distally. Wang et al 122 narrowed the segment to an area of 8 Mb flanked by a proximal boundary between markers D20S206 and D20S107 and a distal boundary between D20S119 and D20S424, whereas Bench et al 123 refined it further, to a 2.7-Mb region spanning from D20S108 to D20S481. Furthermore, the latter group identified six genes and 10 unique expressed sequence tags, of which five were expressed in both normal bone marrow and purified CD34 þ cells.…”

Section: Chromosome 20mentioning

confidence: 99%

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Reilly

2008

Leukemia

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The frequency of cytogenetic abnormalities in the Philadelphianegative myeloproliferative neoplasms (MPNs) varies from approximately 30% in primary myelofibrosis (PMF) to less than 5% in essential thrombocytosis (ET). The spectrum of aberrations is heterogeneous, ranging from gains and losses of genetic material to structural changes including unbalanced translocations. However, no specific abnormality has been identified to date. Nevertheless, such investigations can provide evidence of clonality and, as a result, cytogenetic findings have been included in the WHO diagnostic criteria for this group of diseases. The aim of the current review is to discuss the pathogenetic insight and prognostic information that standard, as well as molecular cytogenetic analysis has provided. A brief overview is given of the cytogenetic findings in the individual diseases, followed by a more detailed discussion of the possible pathogenetic consequences of specific abnormalities and their impact on prognosis.

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Section: Chromosome 20mentioning

confidence: 99%

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Reilly

2008

Leukemia

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“…20,21 Mean purity was greater than 95% for granulocytes and 91% for T cells. For samples from ET patients after AML transformation, archival bone marrow or peripheralblood smears were scraped at the thickest part of the film and DNA isolated as previously described.…”

Section: Patients and Samplesmentioning

confidence: 99%

Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation

Campbell¹,

Baxter²,

Beer³

et al. 2006

Blood

288

198

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The identification of an acquired mutation of JAK2 in patients with myeloproliferative disorders has raised questions about the relationship between mutationpositive and mutation-negative subtypes, timing of the JAK2 mutation, and molecular mechanisms of disease progression. Here we demonstrate that patients with V617F ؊ essential thrombocythemia do not commonly progress to become V617F ؉ . Consistent with the concept of distinct pathogenetic mechanisms, we show that patients with and without the JAK2 mutation have different patterns of cytogenetic abnormality, with virtually all patients carrying the 20q deletion or trisomy 9 being V617F ؉ . We also investigated the existence of a "pre-JAK2 " phase by comparing the proportion of clonally derived granulocytes, estimated from X-chromosome inactivation patterns (XCIPs), with the proportion of V617F ؉ granulocytes.

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“…[7][8][9] A minimally deleted region (MDR) of ;1.7 Mb has been reported in myeloid disorders. [10][11][12][13] It is hypothesized that haploinsufficiency of one or more tumor suppressors in a cluster of imprinted genes in the MDR could lead to a loss of expression, which may contribute to myeloid disorder development. [14][15][16] Mapping studies have focused on two such candidate tumor suppressors: L3MBTL1 and SGK2.…”

Section: Introductionmentioning

confidence: 99%

Mosaic chromosome 20q deletions are more frequent in the aging population

et al. 2017

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Key Points• The frequency of 20q deletions increases with age and is more common than myeloid disorders.• Mosaic 20q deletions spanning regions deleted in myeloid disorders are found in individuals without diagnosis of myeloid disorders. (20q) is the most common large scale mosaic autosomal abnormality in whole blood and has a frequency of ;1 in every 1000 adults over the age of 50, which exceeds the expected incidence of myeloid leukemia in the population. Our results indicate that subclonal mosaic events of a region implicated in myeloid disorders on 20q are more frequent than the predicted populationestimated incidence of myeloid diseases, and thus suggest that these events can be tolerated until additional events accumulate that drive myeloid disorders.

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Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes

Cited by 151 publications

References 43 publications

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation

Mosaic chromosome 20q deletions are more frequent in the aging population

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