In:
PLOS ONE, Public Library of Science (PLoS), Vol. 17, No. 8 ( 2022-8-26), p. e0265306-
Abstract:
Somatic genetic alterations in pituitary neuroendocrine tumors (PitNET) tissues have been identified in several studies, but detection of overlapping somatic PitNET candidate genes is rare. We sequenced and by employing multiple data analysis methods studied the exomes of 15 PitNET patients to improve discovery of novel factors involved in PitNET development. PitNET patients were recruited to the study before PitNET removal surgery. For each patient, two samples for DNA extraction were acquired: venous blood and PitNET tissue. Exome sequencing was performed using Illumina NexSeq 500 sequencer and data analyzed using two separate workflows and variant calling algorithms: GATK and Strelka2. A combination of two data analysis pipelines discovered 144 PitNET specific somatic variants (mean = 9.6, range 0–19 per PitNET) of which all were SNVs. Also, we detected previously known GNAS PitNET mutation and identified somatic variants in 11 genes, which have contained somatic variants in previous WES and WGS studies of PitNETs. Noteworthy, this is the third study detecting somatic variants in gene RYR1 in the exomes of PitNETs. In conclusion, we have identified two novel PitNET candidate genes ( AC002519 . 6 and AHNAK ) with recurrent somatic variants in our PitNET cohort and found 13 genes overlapping from previous PitNET studies that contain somatic variants. Our study demonstrated that the use of multiple sequencing data analysis pipelines can provide more accurate identification of somatic variants in PitNETs.
Type of Medium:
Online Resource
ISSN:
1932-6203
DOI:
10.1371/journal.pone.0265306
DOI:
10.1371/journal.pone.0265306.g001
DOI:
10.1371/journal.pone.0265306.t001
DOI:
10.1371/journal.pone.0265306.t002
DOI:
10.1371/journal.pone.0265306.t003
DOI:
10.1371/journal.pone.0265306.s001
DOI:
10.1371/journal.pone.0265306.s002
DOI:
10.1371/journal.pone.0265306.s003
DOI:
10.1371/journal.pone.0265306.s004
DOI:
10.1371/journal.pone.0265306.r001
DOI:
10.1371/journal.pone.0265306.r002
DOI:
10.1371/journal.pone.0265306.r003
DOI:
10.1371/journal.pone.0265306.r004
DOI:
10.1371/journal.pone.0265306.r005
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2022
detail.hit.zdb_id:
2267670-3
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