TABLE 1.
Summary of Testing Recommendations
| Lymphoma/Leukemia | At Diagnosis (Monitoring Only Positive Markers) |
|---|---|
| Acute myeloid leukemia | Karyotype |
| NPM1 and CEBPA (only in normal karyotype) | |
| FLT3 internal tandem duplication | |
| KMT2A if ambiguous lineage | |
| FISH for PML-RARA if morphology and flow cytometry are suspicious for acute promyelocytic leukemia | |
| KIT in acute myeloid leukemia with core-binding factor | |
| Myeloproliferative neoplasms or chronic myelogenous leukemia | BCR-ABL1 fusion by quantitative polymerase chain reaction or FISH (bone marrow if peripheral blood is negative) |
| Non–BCR-ABL1 MPN (PV, ET, PMF) | JAK2 (see Figure algorithm) |
| Primary hypereosinophilia or hypereosinophilic syndromes | FIP1L1-PDGFRA fusion gene by karyotype, FISH, or reverse transcription–polymerase chain reaction; next-generation sequencing only if negative |
| Chronic neutrophilic leukemia | CSF3R mutation |
| Myelodysplastic syndrome | Karyotype, or FISH panel if karyotype is unsuccessful (5q-, 7q-, +8, 20q-, etc) |
| SF3B1 mutation in MDS with ring sideroblasts | |
| Chronic myelomonocytic leukemia | Use next-generation sequencing for targeted genes ONLY in rare clinical situations |
| MDS/MPN with ring sideroblasts and thrombocytosis | Karyotype |
| JAK2 and SF3B1 mutations | |
| Chronic lymphocytic leukemia | Flow cytometry |
| FISH del(13q14), del(11q), trisomy 12, del(17p) | |
| Follow-up: flow cytometry only | |
| Optional: ZAP-70, IgHV mutation status, NOTCH1 mutation, SF3B1 mutation | |
| High-risk chronic lymphocytic leukemia | FISH del(17q) or TP53 mutation (for treatment with ibrutinib) |
| Selected B-cell Lymphoproliferative Disorders | |
| Mantle cell lymphoma | Cyclin D1 by immunohistochemistry or t(11;14)/CCND1-IGH by FISH |
| Lymphoplasmacytic lymphoma | MYD88 L265P |
| Marginal zone lymphoma | t(18q21;var)/MALT1 by FISH; del (7q) by FISH for splenic variants |
| High-grade B-cell/Burkitt lymphoma | MYC; IGH; BCL2; BCL6 by FISH and/or immunohistochemistry |
| Follicular lymphoma | CD10, BCL2, BCL6 by immunohistochemistry or t(14;18)/IGH-BCL2 by FISH |
Abbreviations: ET, essential thrombocythemia; FISH, fluorescence in situ hybridization; MDS, myelodysplastic syndrome; MPN, myeloproliferative neoplasms; PMF, primary myelofibrosis; PV, polycythemia vera.