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- Title
Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature.
- Authors
Park, Chang-Hun; Yun, Jae Won; Kim, Hyun-Young; Lee, Ki-O; Kim, Sun-Hee; Kim, Hee-Jin
- Abstract
Background Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a new disease entity in the current WHO classification. Genetically, 60%–90% of cases have mutations in SF3B1 , strongly associated with RS, and more than half of them cooccur with JAK2 V617F. This report describes the rare case of MDS/MPN-RS-T with SF3B1 mutation cooccurring with an MPL mutation. Methods We report a 79-year-old man who was referred because of generalized edema. Peripheral blood testing showed macrocytic anemia and thrombocytosis, and bone marrow analysis demonstrated dyserythropoiesis with RS and increased megakaryocytes. A molecular study was performed to detect SF3B1 mutations and recurrent mutations in MPN disease (JAK2 V617F/exon 12, CALR gene exon 9, and MPL gene exon 10 mutations). Results The molecular study revealed SF3B1 K666T and MPL W515R mutations, while BCR - ABL1 or JAK2 V617F/exon 12 and CALR mutations were all negative. Conclusion This is a rare case of concomitant SF3B1 and MPL mutations in MDS/MPN-RS-T.
- Subjects
BONE marrow cancer; COMBINATION drug therapy; EDEMA; MOLECULAR diagnosis; GENETIC mutation; MYELODYSPLASTIC syndromes; MYELOPROLIFERATIVE neoplasms; THROMBOCYTOSIS; TREATMENT effectiveness; HYDROXYUREA; PLATELET aggregation inhibitors; SEQUENCE analysis
- Publication
Laboratory Medicine, 2020, Vol 51, Issue 3, p315
- ISSN
0007-5027
- Publication type
Article
- DOI
10.1093/labmed/lmz076