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

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

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

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

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