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Table 3 Next generation sequencing of pituicytomas

From: Histologic, immunohistochemical, and molecular features of pituicytomas and atypical pituicytomas

Patient Sequencing attempted DNA adequate Disease-Associated Variantsb Variants of Uncertain Significanceb RNA adequate Abnormal fusion Transcripts
1 Y Y BRAF c.1799 T > A p.(V600E) VAF 7% ARID2 c.1672C > T p.(R558C)
FLT3 c.2546G > A p.(R849H)
VAF 4%
VAF 3%
N/A N/A
NF1 c.7079_ 7082delTTAT p.(F2360Wfs*35) VAF 13% IGF1R c.3897C > G p.(N1298K)
MSH6 c.1157C > G p.(P386R)
VAF 50%
VAF 48%
TSC1 c.2074C > T p.(R692*) VAF 2% PBRM1 c.2504G > A p.(R850H);
RNF43 c.1114C > T p.(P372S)
VAF 4%
VAF 55%
2 Y N N/A N/A N/A N/A
3 Y N N/A N/A N/A N/A
4 Y N N/A N/A N/A N/A
5 Y N N/A N/A N/A N/A
6 Y N N/A N/A N/A N/A
7 Y Y HRAS c.182A > G p.(Q61R) VAF 26% KIT c.287C > T
p.(T96 M)
PTCH1 c.3617G > A p.(R1206H)
VAF 38%
VAF 49%
Y None
8 N N/A N/A N/A N/A N/A
9 N N/A N/A N/A N/A N/A
10 (1)a N N/A N/A N/A N/A N/A
10 (2)a N N/A N/A N/A N/A N/A
10 (3)a Y N N/A N/A N/A N/A
10 (4)a Y Y None KDR c.3937G > A p.(D1313N) VAF 47% N/A N/A
11a Y N N/A N/A N/A N/A
  1. Patient 10 had four separate resections as indicated by the parentheses. Abbreviations: N no, N/A not applicable, VAF variant allele fraction, Y yes
  2. aAtypical puticytoma
  3. bVAF may vary within +/− 10% of the actual value, due to stochastic error in the NGS assay. Additionally, tissue heterogeneity and technical artifact such as primer bias may affect the VAF. Therefore, the actual VAF in these tumors may be higher than reported