Blood Res 2022; 57(3):
Published online September 30, 2022
https://doi.org/10.5045/br.2022.2022105
© The Korean Society of Hematology
Correspondence to : Mi-Ae Jang
Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170 Jomaru-ro, Wonmi-gu, Bucheon 14584, Korea
E-mail: miaeyaho@gmail.com
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/ MPN-RS-T) is a unique, overlapping neoplasm. This neoplasm is characterized by features that include
A 95-year-old woman visited Soonchunhyang University Bucheon Hospital for the evaluation of dyspnea. She had suffered from anemia and heart failure over the past three months. A complete blood count revealed macrocytic anemia (hemoglobin, 6.1 g/dL) with a mean corpuscular volume as high as 99.4 fL, leukopenia (white blood cell, 3.7×109/L), and thrombocytosis (platelet count, 490×109/L). Serum biochemical analysis revealed normal folate and cobalamin levels. Haptoglobin and unconjugated bilirubin levels were also normal, and the direct Coombs test result was negative. There was no history of inflammatory or infectious disorders or any other causes of reactive thrombocytosis. Bone marrow analysis revealed dyserythropoiesis with multinuclear and megaloblastoid changes (Fig. 1A). Iron staining showed normal iron levels (grade 2), but ring sideroblasts in up to 20% of all erythroblasts (Fig. 1B). Blasts accounted for <5% of the total nucleated cells. A bone marrow aspirate smear showed the proliferation of large, atypical megakaryocytes (Fig. 1C). The bone marrow cellularity was normal, and reticulin and trichrome staining revealed no myelofibrosis.
The karyotype of the patient was normal. For thrombocytosis, an allele-specific, real-time polymerase chain reaction (PCR, BioSewoom, Seoul, Korea) for the
Reporting of this case without informed consent was approved by the Institutional Review Board of Soonchunhyang University Bucheon Hospital (SCHBC 2022-02-023).
We present a rare case of MDS/MPN-RS-T with
Table 1 Summary of patients with MDS/MPN-RS-T carrying triple driver mutations.
This study | Yasuda | Ye | |
---|---|---|---|
Age at diagnosis (yr) | 95 | 60 | 68 |
Sex | Female | Male | Female |
Splenomegaly | No | ND | No |
Complete blood count | |||
Hb (g/dL) | 6.1 | 9.4 | 9.0 |
WBC (×109/L) | 3.7 | 6.5 | 4.4 |
Platelets (×109/L) | 490 | 775 | 658 |
Bone marrow features | |||
Ring sideroblasts (%) | 20 | >15 | 70 |
Megakaryocytic hyperplasia | Yes | Yes | Yes |
Fibrosis | No | ND | Yes |
Cytogenetics | Normal | Normal | Normal |
Mutation (allele burden) | |||
SF3B1 mutation | R625H (36%) | R625C (40%) | K700E (36%) |
MPN-associated driver mutation | |||
V617F (1%) | V617F (5–10%) | V617F (20%) | |
D373TfsTer57 (32%) | E378RfsTer45 (5–10%) | Wild type | |
Wild type | Wild type | W515L (4%) | |
Treatment | Aspirin | Hydroxyurea, anagrelide | Darbepoetin alpha, hydroxyurea, and aspirin |
Transfusion dependency | Yes | ND | ND |
Follow-up/outcome | Alive | Dead Myelofibrosis/AML progression | ND |
Abbreviations: AML, acute myeloid leukemia; Hb, hemoglobin; MDS/MPN-RS-T, myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis; MPN, myeloproliferative neoplasm; ND, no data; WBC, white blood cell.
The
NGS plays an important role in the investigation of somatic mutations in hematological malignancies. Mutation frequency is a major problem in tumor mutation detection, and, as in the present case, detection of low-level (<1%) somatic mutations is a challenge for conventional NGS [8]. In addition to improving mutation calling performance by increasing sequencing depth, it is also important to verify the mutation using visualization tools, such as IGV, for important known driver mutations, regardless of the defined cut-off value for analysis.
In conclusion, we identified a rare case of MDS/MPN-RS-T with a triple
This study was supported by the Soonchunhyang University Research Fund (2022) and the National Research Foundation of Korea (NRF) grant, funded by the Ministry of Science and ICT (2021R1C1C1005725).
No potential conflicts of interest relevant to this article were reported.
Blood Res 2022; 57(3): 239-241
Published online September 30, 2022 https://doi.org/10.5045/br.2022.2022105
Copyright © The Korean Society of Hematology.
Young Sok Ji1, Seong Kyu Park1, Byung Ryul Jeon2, Mi-Ae Jang2
1Division of Hemato-Oncology, Department of Internal Medicine, 2Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea
Correspondence to:Mi-Ae Jang
Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170 Jomaru-ro, Wonmi-gu, Bucheon 14584, Korea
E-mail: miaeyaho@gmail.com
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/ MPN-RS-T) is a unique, overlapping neoplasm. This neoplasm is characterized by features that include
A 95-year-old woman visited Soonchunhyang University Bucheon Hospital for the evaluation of dyspnea. She had suffered from anemia and heart failure over the past three months. A complete blood count revealed macrocytic anemia (hemoglobin, 6.1 g/dL) with a mean corpuscular volume as high as 99.4 fL, leukopenia (white blood cell, 3.7×109/L), and thrombocytosis (platelet count, 490×109/L). Serum biochemical analysis revealed normal folate and cobalamin levels. Haptoglobin and unconjugated bilirubin levels were also normal, and the direct Coombs test result was negative. There was no history of inflammatory or infectious disorders or any other causes of reactive thrombocytosis. Bone marrow analysis revealed dyserythropoiesis with multinuclear and megaloblastoid changes (Fig. 1A). Iron staining showed normal iron levels (grade 2), but ring sideroblasts in up to 20% of all erythroblasts (Fig. 1B). Blasts accounted for <5% of the total nucleated cells. A bone marrow aspirate smear showed the proliferation of large, atypical megakaryocytes (Fig. 1C). The bone marrow cellularity was normal, and reticulin and trichrome staining revealed no myelofibrosis.
The karyotype of the patient was normal. For thrombocytosis, an allele-specific, real-time polymerase chain reaction (PCR, BioSewoom, Seoul, Korea) for the
Reporting of this case without informed consent was approved by the Institutional Review Board of Soonchunhyang University Bucheon Hospital (SCHBC 2022-02-023).
We present a rare case of MDS/MPN-RS-T with
Table 1 . Summary of patients with MDS/MPN-RS-T carrying triple driver mutations..
This study | Yasuda | Ye | |
---|---|---|---|
Age at diagnosis (yr) | 95 | 60 | 68 |
Sex | Female | Male | Female |
Splenomegaly | No | ND | No |
Complete blood count | |||
Hb (g/dL) | 6.1 | 9.4 | 9.0 |
WBC (×109/L) | 3.7 | 6.5 | 4.4 |
Platelets (×109/L) | 490 | 775 | 658 |
Bone marrow features | |||
Ring sideroblasts (%) | 20 | >15 | 70 |
Megakaryocytic hyperplasia | Yes | Yes | Yes |
Fibrosis | No | ND | Yes |
Cytogenetics | Normal | Normal | Normal |
Mutation (allele burden) | |||
SF3B1 mutation | R625H (36%) | R625C (40%) | K700E (36%) |
MPN-associated driver mutation | |||
V617F (1%) | V617F (5–10%) | V617F (20%) | |
D373TfsTer57 (32%) | E378RfsTer45 (5–10%) | Wild type | |
Wild type | Wild type | W515L (4%) | |
Treatment | Aspirin | Hydroxyurea, anagrelide | Darbepoetin alpha, hydroxyurea, and aspirin |
Transfusion dependency | Yes | ND | ND |
Follow-up/outcome | Alive | Dead Myelofibrosis/AML progression | ND |
Abbreviations: AML, acute myeloid leukemia; Hb, hemoglobin; MDS/MPN-RS-T, myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis; MPN, myeloproliferative neoplasm; ND, no data; WBC, white blood cell..
The
NGS plays an important role in the investigation of somatic mutations in hematological malignancies. Mutation frequency is a major problem in tumor mutation detection, and, as in the present case, detection of low-level (<1%) somatic mutations is a challenge for conventional NGS [8]. In addition to improving mutation calling performance by increasing sequencing depth, it is also important to verify the mutation using visualization tools, such as IGV, for important known driver mutations, regardless of the defined cut-off value for analysis.
In conclusion, we identified a rare case of MDS/MPN-RS-T with a triple
This study was supported by the Soonchunhyang University Research Fund (2022) and the National Research Foundation of Korea (NRF) grant, funded by the Ministry of Science and ICT (2021R1C1C1005725).
No potential conflicts of interest relevant to this article were reported.
Table 1 . Summary of patients with MDS/MPN-RS-T carrying triple driver mutations..
This study | Yasuda | Ye | |
---|---|---|---|
Age at diagnosis (yr) | 95 | 60 | 68 |
Sex | Female | Male | Female |
Splenomegaly | No | ND | No |
Complete blood count | |||
Hb (g/dL) | 6.1 | 9.4 | 9.0 |
WBC (×109/L) | 3.7 | 6.5 | 4.4 |
Platelets (×109/L) | 490 | 775 | 658 |
Bone marrow features | |||
Ring sideroblasts (%) | 20 | >15 | 70 |
Megakaryocytic hyperplasia | Yes | Yes | Yes |
Fibrosis | No | ND | Yes |
Cytogenetics | Normal | Normal | Normal |
Mutation (allele burden) | |||
SF3B1 mutation | R625H (36%) | R625C (40%) | K700E (36%) |
MPN-associated driver mutation | |||
V617F (1%) | V617F (5–10%) | V617F (20%) | |
D373TfsTer57 (32%) | E378RfsTer45 (5–10%) | Wild type | |
Wild type | Wild type | W515L (4%) | |
Treatment | Aspirin | Hydroxyurea, anagrelide | Darbepoetin alpha, hydroxyurea, and aspirin |
Transfusion dependency | Yes | ND | ND |
Follow-up/outcome | Alive | Dead Myelofibrosis/AML progression | ND |
Abbreviations: AML, acute myeloid leukemia; Hb, hemoglobin; MDS/MPN-RS-T, myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis; MPN, myeloproliferative neoplasm; ND, no data; WBC, white blood cell..