Article ; Online: Myeloid/lymphoid neoplasm with eosinophilia and BCR/FGFR1 rearrangement with transformation to cortical T-lymphoblastic lymphoma and erythroid precursors: a case report.
Journal of medical case reports
2023 Volume 17, Issue 1, Page(s) 39
Abstract: Background: Myeloproliferative neoplasms are a group of diseases with diverse biological and clinical characteristics. As a provisional separate entity, myeloid/lymphoid neoplasms with eosinophilia and genetic rearrangement have been described, which ... ...
| Abstract | Background: Myeloproliferative neoplasms are a group of diseases with diverse biological and clinical characteristics. As a provisional separate entity, myeloid/lymphoid neoplasms with eosinophilia and genetic rearrangement have been described, which may present an initial clinical behavior of myeloproliferation and be characterized by varied genetic rearrangements. One of these entities is associated with FGFR1 rearrangements, characterized by its low prevalence and few treatment options. Case presentation: We present the case of a 53-year-old Mestizo male patient of Hispanic origin who initially presented weight loss and fatigue, with a complete blood count showing leukocytosis and eosinophilia, with an initial diagnosis of nonspecific myeloproliferative disorder. In a next-generation sequencing study, BCR::FGFR1 rearrangement was documented, a diagnosis of myeloid/lymphoid neoplasia with eosinophilia and BCR::FGFR1 rearrangement was made, and hydroxyurea therapy was initiated. Subsequently, transformation to cortical T-lymphoblastic leukemia/lymphoma and erythroid precursors was documented, requiring management with chemotherapy. Conclusions: Myeloid/lymphoid neoplasms with eosinophilia and genetic rearrangements constitute a group of deeply heterogeneous diseases with variable clinical and diagnostic characteristics and whose treatment is not clearly defined. |
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| MeSH term(s) | Humans ; Male ; Middle Aged ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/pathology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Lymphoma ; Eosinophilia/genetics ; Gene Rearrangement ; Lymphoma, Non-Hodgkin/genetics ; Receptor, Fibroblast Growth Factor, Type 1/genetics |
| Chemical Substances | FGFR1 protein, human (EC 2.7.10.1) ; Receptor, Fibroblast Growth Factor, Type 1 (EC 2.7.10.1) |
| Language | English |
| Publishing date | 2023-01-26 |
| Publishing country | England |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 2269805-X |
| ISSN | 1752-1947 ; 1752-1947 |
| ISSN (online) | 1752-1947 |
| ISSN | 1752-1947 |
| DOI | 10.1186/s13256-022-03722-y |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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