A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring Sideroblasts
Myelodysplastic syndromes (MDS) are heterogeneous hematological neoplasms which lead to dysplasia, cytopenia and hematopoiesis. They have a risk of transforming into Acute Myeloid Leukemia (AML) in some cases. Genetic markers that are determined by cytogenetics, SNP-A karyotyping and molecular mut...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Liaquat National Hospital and Medical College
2025-04-01
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| Series: | Journal of Liaquat National Hospital |
| Subjects: | |
| Online Access: | https://journals.lnh.edu.pk/jlnh/pdf/d0409c9d-c88f-40e8-9265-c5e3334d6213.pdf |
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| Summary: | Myelodysplastic syndromes (MDS) are heterogeneous hematological neoplasms which lead to dysplasia, cytopenia and hematopoiesis. They
have a risk of transforming into Acute Myeloid Leukemia (AML) in some cases. Genetic markers that are determined by cytogenetics, SNP-A
karyotyping and molecular mutations have evolved to define conditions of pathogenesis and risk evaluation for the development of AML.
Among the concerned are the mutations of the spliceosome (SF3B1, SRSF2, ZRSR2 and U2AF1) epigenetic mutations (DNMT3A, EZH2) and
also mutations in transcription factors (RUNX1) and tyrosine kinases (N-RAS, K-RAS). Here, we report a case of an 80-year-old female patient
presented for the evaluation of myeloma. A morphology report shows changes that suggest multiple myeloma. Lab data shows anemia, elevated
creatinine and calcium; CBC revealed mild neutrophilic leukocytosis and microcytic anemia. Bone marrow demonstrated approximately
50-60% involvement by a plasma cell infiltrate; there was mild dysgranulopoiesis and dyserythropoiesis which are suggestive of plasma cell
myeloma. Frequent mutations in MDS and overlap syndromes were discovered due to advances in genomic studies. The differential diagnosis
of MDS is challenging because they overlap the disorders sharing features of other illnesses. It is expected that more research on MDS and
overlapping disorders will highlight the roles of mutations as “therapeutic targets” and “prognostic indicators” |
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| ISSN: | 2959-1805 2960-2963 |