Diagnosis: Cervix – Spindle cell sarcoma (Copy)
Diagnosis: Cervix – Spindle cell sarcoma
DNA sequencing negative for driver mutations
Aventa FusionPlus found an NTRK3 fusion (intronic) and an ATM fusion
Both missed because breakpoint not targeted by DNA-seq probes
Patient recurred after surgery, received entrectinib based on Aventa FusionPlus results, continues treatment after two years
Aventa FusionPlus guided targeted therapy
Clinical diagnosis: Uterine smooth muscle tumor of uncertain malignant potential (STUMP)
Clinical diagnosis: Uterine smooth muscle tumor of uncertain malignant potential (STUMP)
Pathological diagnosis made based solely on IHC; patient received surgery followed by hormone therapy
Retrospective Aventa FusionPlus testing detected PRLR::PLAG1 fusion, favoring a diagnosis of leiomyosarcoma (LMS)
This change in diagnosis would have informed a different course of therapy – surgery followed by observation only
Aventa FusionPlus would have changed diagnosis and therapy selection
Original diagnosis: High-grade endometrial stromal sarcoma(HGESS)
Original diagnosis: High-grade endometrial stromal sarcoma (HGESS)
Translocation-negative by DNA-seq and RNA-seq
Retrospective Aventa FusionPlus testing identified EPC1 fusion consistent with the diagnosis of low-grade endometrial stromal sarcoma (LGESS)
Change in prognosis from HGESS would have informed a change in patient management to hormone therapy and EBRT-only instead of systemic chemotherapy
Aventa FusionPlus would have changed prognosis and therapy selection
Clinical diagnosis: Myxoid sarcoma, favor myxoid LMS
Clinical diagnosis: Myxoid sarcoma, favor myxoid LMS
Diagnosis was not definitive due to negative RNA sequencing
Retrospective Aventa FusionPlus testing identified PLAG1 rearrangement (undetectable by RNA sequencing due to lack of fusion transcript)
Results would have led to definitive diagnosis and confirmed need for systemic therapy in recurrent setting