PDGFRA rearrangement leading to hyper-eosinophilia, T-lymphoblastic lymphoma, myeloproliferative neoplasm and precursor B-cell acute lymphoblastic leukemia
| Autor: | David S. Snyder, Qin Huang, P Chu, Karl Gaal, Lawrence M. Weiss, Karen L. Chang |
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| Rok vydání: | 2010 |
| Předmět: | |
| Zdroj: | Leukemia. 25:371-375 |
| ISSN: | 1476-5551 0887-6924 |
| DOI: | 10.1038/leu.2010.272 |
| Popis: | The recent World Health Organization (WHO) classification clearly defined a new entity, named ‘myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB and FGFR1’, as a category of three rare specific but related disease groups.1 They are characterized by the formation of a fusion gene encoding an aberrant tyrosine kinase and almost always associated with peripheral blood eosinophilia.1 Myeloid and lymphoid neoplasms with PDGFRA rearrangement are unique disease entities mostly characterized by the formation of a fusion gene FIP1L1–PDGFRA, as a result of a cryptic deletion at chromosome 4q12.1, 2 The disease presents generally as chronic eosinophilic leukemia but can also present as acute myeloid leukemia, T-lymphoblastic lymphoma or both simultaneously. Although the hematopoietic stem cell has been postulated as a possible cellular origin of the disease, clinical manifestations are apparently limited only to the myeloid and T-cell lineages both in chronic phase and in acute leukemic transformation.1, 2 In this study we present an extremely rare case, in which a single genetic abnormality (PDGFRA rearrangement) led to multiple morphologically and immunophenotypically distinct diseases, including T-lymphoblastic lymphoma, a myeloproliferative neoplasm with eosinophilia and abnormal mastocytosis, and a precursor B-cell acute lymphoblastic leukemia, thus involving all three major hematopoietic lineages, that is, myeloid, T-cell and B-cell in the same patient, truly representing a ‘pluripotent hematopoietic stem cell disorder.’ |
| Databáze: | OpenAIRE |
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