Diagnosis and classification of hematologic malignancies on the basis of genetics Journal Article
| Authors: | Taylor, J.; Xiao, W.; Abdel-Wahab, O. |
| Article Title: | Diagnosis and classification of hematologic malignancies on the basis of genetics |
| Abstract: | Genomic analysis has greatly influenced the diagnosis and clinical management of patients affected by diverse forms of hematologic malignancies. Here, we review how genetic alterations define subclasses of patients with acute leukemias, myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPNs), non-Hodgkin lymphomas, and classical Hodgkin lymphoma. These include new subtypes of acute myeloid leukemia defined by mutations in RUNX1 or BCR-ABL1 translocations as well as a constellation of somatic structural DNA alterations in acute lymphoblastic leukemia. Among patients with MDS, detection of mutations in SF3B1 define a subgroup of patients with the ring sideroblast form of MDS and a favorable prognosis. For patients with MPNs, detection of the BCR-ABL1 fusion delineates chronic myeloid leukemia from classic BCR-ABL12 MPNs, which are largely defined by mutations in JAK2, CALR, or MPL. In the B-cell lymphomas, detection of characteristic rearrangements involving MYC in Burkitt lymphoma, BCL2 in follicular lymphoma, and MYC/BCL2/BCL6 in high-grade B-cell lymphomas are essential for diagnosis. In T-cell lymphomas, anaplastic large-cell lymphoma is defined by mutually exclusive rearrangements of ALK, DUSP22/IRF4, and TP63. Genetic alterations affecting TP53 and the mutational status of the immunoglobulin heavy-chain variable region are important in clinical management of chronic lymphocytic leukemia. Additionally, detection of BRAFV600E mutations is helpful in the diagnosis of classical hairy cell leukemia and a number of histiocytic neoplasms. Numerous additional examples provided here demonstrate how clinical evaluation of genomic alterations have refined classification of myeloid neoplasms and major forms of lymphomas arising from B, T, or natural killer cells. © 2017 by The American Society of Hematology. |
| Keywords: | gene mutation; genetics; janus kinase 2; review; cancer patient; cancer diagnosis; genetic analysis; protein bcl 2; mantle cell lymphoma; multiple myeloma; classification; neoplasm proteins; waldenstroem macroglobulinemia; chronic myeloid leukemia; acute lymphoblastic leukemia; hematologic malignancy; myelodysplastic syndrome; hematologic neoplasms; immunoglobulin heavy chain; myc protein; tumor protein; natural killer cell; protein bcl 6; bcr abl protein; cancer classification; chronic lymphatic leukemia; follicular lymphoma; burkitt lymphoma; myeloproliferative neoplasm; interferon regulatory factor 4; classical hodgkin lymphoma; hairy cell leukemia; b cell leukemia; transcription factor runx1; randomized controlled trial (topic); anaplastic large cell lymphoma; acute myeloid leukemia; diffuse large b cell lymphoma; cancer prognosis; histiocytic lymphoma; humans; human; priority journal; lymphocytic lymphoma |
| Journal Title: | Blood |
| Volume: | 130 |
| Issue: | 4 |
| ISSN: | 0006-4971 |
| Publisher: | American Society of Hematology |
| Date Published: | 2017-07-27 |
| Start Page: | 410 |
| End Page: | 423 |
| Language: | English |
| DOI: | 10.1182/blood-2017-02-734541 |
| PUBMED: | 28600336 |
| PROVIDER: | scopus |
| PMCID: | PMC5533199 |
| DOI/URL: | |
| Notes: | Review -- Export Date: 5 September 2017 -- Source: Scopus |
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