Table 1.
Summary of molecular alterations and clinical findings.
| Date of Assessment: | May 2014 | December 2015 | April 2017 |
|---|---|---|---|
| Source for NGS: | Orbital mass1 | Blood (ctDNA)2 | Blood (ctDNA)2 |
| NGS results: | ASXL1 R693* U2AF1 Q157P | JAK2 V617F (2.9%) | RIT1 M90V (4.0%) |
| BRAF V600E | JAK2 V617F (3.2%) | ||
| BRAF V600E (0.06%) | |||
| KRAS A59T (2.9 %) | |||
| Intervention at the time of NGS assessment: | None | Vemurafenib followed by trametinib, starting in November 2014 | Interferon alfa-2b, starting January 2016 |
| Status of ECD | Stable disease | Stable disease | |
| Status of myelofibrosis | Not clinically apparent: No anemia or thrombocytopenia | Not clinically apparent | WHO grade 2 myelofibrosis. Hgb 7.5, Platelet count 70 |
Bold: Associated with myelofibrosis. Other genomic alterations are potentially associated with ECD.
1
315 gene NGS Foundation One.
2
73 gene panel; Guardant.