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
Presentation: Diffuse B-Cell Lymphoma
Presentation: Diffuse B-Cell Lymphoma
FISH testing for MYC was positive, FISH testing for BCL2 was negative – patient diagnosed as single-hit DLBCL and treated using standard chemotherapy
Retrospective Aventa Lymphoma testing detected IgL::BCL2 rearrangement that had been missed because dual fusion FISH probes targeting the wrong partner (IgH::BCL2 ) were used
Patient passed away within 9 months of diagnosis; presence of BCL2 rearrangement would have classified patient as higher-risk double-hit DLBCL and possibly changed treatment selection
Aventa Lymphoma would have prompted consideration of more aggressive treatment
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
Aventa FusionPlus would have provided definitive diagnosis
Presentation: Lymphoma diagnosed as DLBCL
Presentation: Lymphoma diagnosed as DLBCL
FISH testing for MYC and BCL2 was negative; FISH testing for BCL6 was positive – a diagnosis of single-hit DLBCL was made, and standard R-CHOP treatment was administered
Retrospective Aventa Lymphoma testing detected IgH::CCND1 rearrangement, which was confirmed by IHC -- CCND1 was not tested for via FISH due to DLBCL diagnosis
Patient progressed and passed away within 8 months of diagnosis
Detection of CCND1 rearrangement would have prompted reconsideration of diagnosis to aggressive mantle cell lymphoma and alternative treatment, with potentially improved outcome