The NeoTYPE ALL Profile analyzes 38 genes to detect DNA and RNA alterations through a combination of next-generation sequencing (NGS) 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.
- DNA Sequencing:
- SNVs/InDels (21 Genes): ABL1, ABL2, CDKN2A, CRLF2, CSF1R, EPOR, FGFR2, FGFR3, FLT3, IKZF1, IL7R, JAK1, JAK2, JAK3, NTRK1, NTRK2, NTRK3, PDGFRA, PDGFRB, SH2B3, and TP53
- Copy Number Variations (3 Genes): CDKN2A, IKZF1, and TP53
Note: Only copy number loss is reported as it is a clinically relevant abnormality for these tumor suppressor genes.
- RNA Sequencing:
- Fusions (30 Genes): ABL1, ABL2, BCR, CRLF2, CSF1R, EPOR, ETV6, FGFR1, FLT3, IKZF1, JAK2, KMT2A, MEF2D, MLLT10, NTRK1, NTRK2, NTRK3, NUP98, PAX5, PBX1, PDGFRA, PDGFRB, PTK2B, RUNX1, TAL1, TCF3, TLX1, TLX3, TYK2, and ZNF384
- FISH (2 Genes): CRLF2 (Xp22.33/Yp11.32) | EPOR (19p13.2)
The NeoTYPE ALL Profile is intended as an aid in diagnostic evaluation, prognostication, and therapy selection of acute lymphoblastic leukemia (ALL) with a focus on Ph+ and Ph-like B-ALL subtypes. It is appropriate for both adult and pediatric ALL patients.
Comprehensive genetic information is of critical importance for disease management of ALL.
- 25% of B-ALL cases have the BCR-ABL1 fusion (Philadelphia chromosome-positive, or Ph+), with historically poor outcomes, but improved with tyrosine kinase inhibitors1.
- Approximately 20-25% of B-ALL cases are characterized as Ph-Like and associated with a highly unfavorable prognosis2,3.
- Many fusions, such as those involving ABL1, ABL2, CSF1R, PDGFRB, JAK2, or EPOR, may be responsive to certain tyrosine kinase inhibitors2.
- Copy number variations are increasingly relevant as risk stratification markers for ALL. Deletions of tumor suppressor genes, such as CDKN2A, IKZF1 and TP53, are generally associated with poor clinical outcomes4,5,6.
- Bone Marrow Aspirate: 2-3 mL in EDTA tube
- Peripheral Blood: 3-5 mL in EDTA tube
- FFPE tissue: Paraffin block. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 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. Note: not validated for the FISH portion.
Note: Test in TNA-based. Please select Extract & Hold - TNA if specimen hold service is desired.
Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen. For fresh samples: ship same day as drawn whenever possible; specimens <72 hours old preferred.
14 Days
- Sánchez, R., Ribera, J., Morgades, M. et al. A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics. Blood Cancer J. 10, 43 (2020).
- Jain N, et al. Ph-like acute lymphoblastic leukemia: a high-risk subtype in adults. Blood. 2017;129(5):572-581.
- Terwilliger T , Abdul-Hay M. Acute lymphoblastic leukemia: a comprehensive review and 2017 update. Blood Cancer Journal (2017) 7, e577;
- Zhang W, Kuang P, Liu T. Prognostic significance of CDKN2A/B deletions in acute lymphoblastic leukaemia: a meta-analysis. Ann Med. 2019;51(1):28-40.
- Marke, R, van Leeuwen F, Scheijen B. The many faces of IKZF1 in B-cell precursor acute lymphoblastic leukemia. Haematologica. Vol.103 No. 4 (2018): April, 2018
- Stengel A. et al. TP53 mutations occur in 15.7% of ALL and are associated with MYC-rearrangement, low hypodiploidy, and a poor prognosis. Blood (2014) 124 (2):251-258.