Abstract. Malignant peripheral nerve sheath tumor (MPNST), an aggressive soft-tissue sarcoma, occurs in people with neurofibromatosis type 1 (NF1) and sporadically. Whole-genome and multi-regional exome sequencing, transcriptomic, and methylation profiling of 95 tumor samples revealed the order of genomic events in tumor evolution. Following biallelic inactivation of NF1, loss of CDKN2A or TP53 with or without inactivation of polycomb repressive complex 2 (PRC2) leads to extensive somatic copy number aberrations (SCNAs). Distinct pathways of tumor evolution are associated with inactivation of PRC2 genes and H3K27 trimethylation (H3K27me3) status. Tumors with H3K27me3 loss evolve through extensive chromosomal losses followed by whole genome doubling and chromosome 8 amplification, and show lower levels of immune cell infiltration. Retention of H3K27me3 leads to extensive genomic instability, but an immune cell-rich phenotype. Specific SCNAs detected in both tumor samples and cell-free DNA (cfDNA) act as a surrogate for H3K27me3 loss and immune infiltration, and predict prognosis.
On #scienceTwitter, my favourite thing was reading and, on rare occasions, writing "paper/preprint threads". From the researchers I followed and through the #Twitter algorithm, this became my most important source for new #research.
While people start to do the same on #Mastodon, I have the feeling that I miss important work bc no algorithm "saves" it for me if I don't watch my timeline constantly.
Two simple solutions would be: a commonly accepted hashtag that everybody uses when writing "paper threads" or an [...] @ a.gup.pe group with a similar adaptation rate.
#Question 1: is there already a mechanism for this that I missed?
#Question 2: What hashtag or group name?
I saw #TootPrint before. Maybe #PaperInAToot? #PaperInAPost? #PaperInAThread? #PaperPost? #MastoPrint?
Suggestions and boosts, please, we need reach for this! š¤ā
#TwitterMigration #Science #Scientist @phdstudents @academicchatter @neuroscience @cognition
Today's #lgbtstemday is a reminder that #science thrives via diversity š³ļøāš Many scientists are #queer, and this aspects doesn't stay at home when we go to work. Preferred pronouns, gender affirming healthcare and gender-neutral bathrooms can set your #lgbtq colleagues up for success, and make science a better place for everyone š³ļøāā§ļø
Do any concepts feel weird and unfamiliar? Feel free to reach out and ask, happy to share my experiences
#lgbtqia #lgbt
Iām looking for grad students for 2023. Projects related to cell-free placental DNA dynamics, (Epi)genomics, and placental dysfunction. Projects are computational. See website for details about lab, also pls RT (http://wilsonpregnancylab.com)
@IFPA_Official @SRIWomensHealth
@CEEHRC