Presentation: Aggressive non-Hodgkin B-cell lymphoma
Presentation: Aggressive non-Hodgkin B-cell lymphoma
Morphological features are most compatible with Burkitt lymphoma
FISH testing for MYC-r was negative
Aventa Lymphoma testing detected cryptic IgH::MYC rearrangement missed due to design of break-apart FISH probes
Oncologist added CNS prophylaxis to treatment plan
Aventa Lymphoma resolved diagnosis and identified need for more aggressive treatment
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
Presentation: Atypical lymphoid infiltrate
Presentation: Atypical lymphoid infiltrate
Pathology consistent with primary cutaneous T-cell lymphoma, NOS with T-follicular helper phenotype
Aventa Lymphoma testing detected unanticipated TRA::TCL1A rearrangement, along with an otherwise complex karyotype
Rearrangement prompted reconsideration of diagnosis to T-cell prolymphocytic leukemia (T-PLL)
Confirmatory TCL1A IHC and FISH studies are underway
Aventa Lymphoma changed diagnosis
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
Presentation: Snoring evaluation finds abnormal follicular growth
Presentation: Snoring evaluation finds abnormal follicular growth
Cells expressed IRF4
IRF4 rearrangement negative via commercial FISH and DNA/RNA NGS testing
Aventa Lymphoma testing detected IgH::IRF4 rearrangement that was missed because one of the break-apart FISH probes used previously targeted a region deleted in this patient
With IRF4-driven lymphoma confirmed, patient received mild chemotherapy – an alternative diagnosis such as DLBCL or follicular lymphoma could have resulted in more aggressive treatment
Patient achieved complete remission