fsvarn / GLASSx

GLASS consortium
MIT License
13 stars 8 forks source link

Updating GLSS-CU-P100 subtype status #19

Closed Kcjohnson closed 6 months ago

Kcjohnson commented 1 year ago

The case (GLSS-CU-P100) was originally listed as IDHwt but upon re-examination the case has evidence for an IDH1 mutation albeit with low coverage and 1p/19q codeletion (see below). The age at first diagnosis was in the 20s. The sample was not reported as IDHmut in the original manuscript/clinical data (https://www.nature.com/articles/s41591-019-0349-y), but it's possible this was due to the fact that the first sample in the tumor pair was a high-grade recurrence and low coverage of the IDH1 locus.

This case will go unchanged in the current version of the GLASS database, but future versions will have corrected the mutation call and glioma subtype ("IDHmut-codel").

GLSS-CU-P100
Kcjohnson commented 6 months ago

This change has been updated in the internal GLASS database and will be reflected in future public releases.