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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Liaquat National Hospital and Medical College
2025-04-01
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| Series: | Journal of Liaquat National Hospital |
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| author | Shamail Zia Brenda Ly Alma Sanchez Salazar Bridget Herschap Aamir Ehsan |
| author_facet | Shamail Zia Brenda Ly Alma Sanchez Salazar Bridget Herschap Aamir Ehsan |
| author_sort | Shamail Zia |
| collection | DOAJ |
| description | 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” |
| format | Article |
| id | doaj-art-e343f4cf4aa94e8eb874be48c6543edd |
| institution | DOAJ |
| issn | 2959-1805 2960-2963 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Liaquat National Hospital and Medical College |
| record_format | Article |
| series | Journal of Liaquat National Hospital |
| spelling | doaj-art-e343f4cf4aa94e8eb874be48c6543edd2025-08-20T03:00:51ZengLiaquat National Hospital and Medical CollegeJournal of Liaquat National Hospital2959-18052960-29632025-04-0131586310.37184/jlnh.2959-1805.2.30A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring SideroblastsShamail Zia0Brenda Ly1Alma Sanchez Salazar2Bridget Herschap3Aamir Ehsan4Department of Pathology, CorePath Laboratories, San Antonio, TX, USADepartment of Pathology, CorePath Laboratories, San Antonio, TX, USADepartment of Pathology, CorePath Laboratories, San Antonio, TX, USADepartment of Pathology, CorePath Laboratories, San Antonio, TX, USADepartment of Pathology, CorePath Laboratories, San Antonio, TX, USAMyelodysplastic 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”https://journals.lnh.edu.pk/jlnh/pdf/d0409c9d-c88f-40e8-9265-c5e3334d6213.pdfmyelodysplastic syndromesf3b1molecular mutationsdyserythropoiesisplasma cell myeloma |
| spellingShingle | Shamail Zia Brenda Ly Alma Sanchez Salazar Bridget Herschap Aamir Ehsan A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring Sideroblasts Journal of Liaquat National Hospital myelodysplastic syndrome sf3b1 molecular mutations dyserythropoiesis plasma cell myeloma |
| title | A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring Sideroblasts |
| title_full | A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring Sideroblasts |
| title_fullStr | A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring Sideroblasts |
| title_full_unstemmed | A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring Sideroblasts |
| title_short | A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring Sideroblasts |
| title_sort | rare case of plasma cell myeloma myelodysplastic neoplasm with low blast and sf3b1 mutation and dyserythropoiesis with ring sideroblasts |
| topic | myelodysplastic syndrome sf3b1 molecular mutations dyserythropoiesis plasma cell myeloma |
| url | https://journals.lnh.edu.pk/jlnh/pdf/d0409c9d-c88f-40e8-9265-c5e3334d6213.pdf |
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