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A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia

Overview of attention for article published in Cold Spring Harbor Molecular Case Studies, January 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (72nd percentile)

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Title
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia
Published in
Cold Spring Harbor Molecular Case Studies, January 2016
DOI 10.1101/mcs.a000687
Pubmed ID
Authors

Charles Lu, Peter Riedell, Christopher A. Miller, Ian S. Hagemann, Peter Westervelt, Bradley A. Ozenberger, Michelle O'Laughlin, Vincent Magrini, Ryan T. Demeter, Eric J. Duncavage, Malachi Griffith, Obi L. Griffith, Lukas D. Wartman, Lu, Charles, Riedell, Peter, Miller, Christopher A, Hagemann, Ian S, Westervelt, Peter, Ozenberger, Bradley A, O'Laughlin, Michelle, Magrini, Vincent, Demeter, Ryan T, Duncavage, Eric J, Griffith, Malachi, Griffith, Obi L, Wartman, Lukas D

Abstract

We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an anterior mediastinal mass was consistent with a nonseminomatous GCT. Prior studies have described associations between hematological malignancies, including AML M7 and nonseminomatous GCTs, and it was recently suggested that a common founding clone initiated both cancers. We performed enhanced exome sequencing on the GCT and the AML M7 from our patient to define the clonal relationship between the two cancers. We found that both samples contained somatic mutations in PTEN (C136R missense) and TP53 (R213 frameshift). The mutations in PTEN and TP53 were present at ∼100% variant allele frequency (VAF) in both tumors. In addition, we detected and validated five other shared somatic mutations. The copy-number analysis of the AML exome data revealed an amplification of Chromosome 12p. We also identified a heterozygous germline variant in FANCA (S858R), which is known to be associated with Fanconi anemia but is of uncertain significance here. In summary, our data not only support a common founding clone for these cancers but also suggest that a specific set of distinct genomic alterations (in PTEN and TP53) underlies the rare association between GCT and AML. This association is likely linked to the treatment resistance and extremely poor outcome of these patients. We cannot resolve the clonal evolution of these tumors given limitations of our data.

Twitter Demographics

The data shown below were collected from the profiles of 6 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 5 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 20%
Unknown 4 80%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 2 40%
Student > Master 1 20%
Student > Postgraduate 1 20%
Professor > Associate Professor 1 20%
Readers by discipline Count As %
Agricultural and Biological Sciences 3 60%
Immunology and Microbiology 1 20%
Medicine and Dentistry 1 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 May 2016.
All research outputs
#1,766,715
of 7,659,635 outputs
Outputs from Cold Spring Harbor Molecular Case Studies
#27
of 75 outputs
Outputs of similar age
#85,527
of 312,055 outputs
Outputs of similar age from Cold Spring Harbor Molecular Case Studies
#2
of 3 outputs
Altmetric has tracked 7,659,635 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 75 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has gotten more attention than average, scoring higher than 64% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 312,055 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 72% of its contemporaries.
We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one.