The NeoTYPE® Follicular Lymphoma Profile analyzes 15 genes through a combination of next-generation sequencing (NGS), fragment analysis, and FISH as noted below. Test reports include a summary interpretation of all results together. FISH components may be ordered as “Tech-Only” by pathology clients who wish to perform the professional component.
- NGS (15 Genes): ARID1A, BCL2, BCL6, CDKN2A, CREBBP, EP300, EZH2, FAS, KMT2D, MAP2K1, MEF2B, PIK3CA, SOCS1, TNFAIP3, and TNFRSF14
For EZH2, the test can detect relevant mutations in Exons 16 and 18, including Y646N, Y646H, Y646F, Y646S, Y646C, A682G, and A692V.
- Fragment Analysis: BCL2
- FISH probes: TNFRSF14 (1p36) | DUSP22-IRF4
Conventional follicular lymphoma (FL) is a common form of non-Hodgkin lymphoma (NHL) that stems from germinal center B-lymphocytes and is typically characterized by diffuse lymphadenopathy, splenomegaly, and bone marrow involvement, as well as occasional involvement in other extranodal sites. Histologic grade correlates with prognosis with grade 1-2 being indolent and not usually curable. Grade 3 conventional FL has a more aggressive clinical course, but may respond to systemic therapies. Frequent recurrent genetic abnormalities in conventional FL include rearrangements of BCL2 (80%) and BCL6 (15%).
Pediatric-type follicular lymphoma (PTFL) most commonly presents in children age 7.4-14 years, but can be seen in young adults and more rarely older adults. PTFL occurs as localized disease of the head and neck lymph nodes or tonsils and is characteristically negative for BCL2 and BCL6 rearrangements. Although most cases meet conventional criteria for grade 3B FL, PTFL has a good prognosis after local excision alone. The molecular profile of PTFL differs from conventional FL, as PTFL only has rare mutations in CREBBP, EZH2 and KMT2D, which are commonly found in conventional FL. PTFL frequently has mutations in TNFRSF14 and MAP2K1. Follicular lymphoma with EZH2 mutation may respond to EZH2 inhibitors. The NeoTYPE® Follicular Lymphoma Profile has been developed to include a number of genes which are associated with lymphoma pathogenesis. Results from this test will aid in patient diagnosis, classification, prognosis, as well as treatment decisions.
- FFPE tissue: Paraffin block. 10% NBF fixative is the recommended fixative. Do not use zinc or mercury fixatives (B5). Highly acidic or prolonged decalcification processes will not yield sufficient nucleic acid to accurately perform molecular studies.
Refrigerate specimen. Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible.