Colony whole genome sequencing of hematopoietic stem and progenitor cell-derived colonies from 2 dual SF3B1-mutant MDS-RS patients
Citation and access
Citation and access
Data access level:
Creator/Principal investigator(s):
Research principal:
Data contains personal data:
Yes
Type of personal data:
Genetic and biological data of patients
Code key exists:
Yes
Sensitive personal data:
Yes
Citation:
Language:
Method and outcome
Method and outcome
Unit of analysis:
Population:
Patients with Myelodysplastic neoplasms with ring sideroblasts (MDS-RS)
Time method:
Study design:
- Preclinical study
Sampling procedure:
Description of sampling:
The data in this dataset is from 2 dual SF3B1mt MDS-RS patients and is part of a study where bone marrow (BM) samples were collected from 2 dual SF3B1mt MDS-RS patients (Patient 1: N626D, K666N; Patient 2: K700E, K666N) evaluated at Karolinska University Hospital, Sweden. Diagnostic procedures were performed according to the European LeukemiaNet recommendation and WHO classification for myeloid neoplasms. Mutational status was evaluated at the clinic through panel sequencing for the most common myeloid mutations. Additional samples were collected from a total of 4 healthy NBM donors for control purposes. All source material was provided with written informed consent for research use, given in accordance with the Declaration of Helsinki, and the study was approved by the Ethics Research Committee at Karolinska Institutet.
Samples/material - Existing from scientific collection/biobank
Samples/material - Existing from scientific collection/biobank
Name:
Type(s) of sample:
Administrative information
Administrative information
Responsible department/unit:
Department of Medicine, Huddinge [H7]
Contributor(s):
- Seishi Ogawa - Kyoto University
- Yasuhito Nannya - Kyoto University
Ethics Review:
Stockholm - 2017/1090-31/4
Funding
Funding
Funding agency:
- Swedish Research Council
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Award number:
2021-01404_VR
Award title:
Disease mechanisms and targeted treatment in myelodysplastic syndromes
Funding information:
This translational research program aims at improving outcome for patients with myelodysplastic syndromes (MDS) by unravelling cellular and molecular mechanisms underlying disease features and response to treatment. Using a world-unique database of clinically annotated MDS patients who have undergone targeted DNA sequencing and RNA sequencing of CD34+ BM cells and has been complemented with comprehensive information regarding transfusion patterns and response to treatment we aim to develop novel predictive models for estimation of age-related survival loss, risk for progression, and optimal management and treatment. By using advanced culture models for human hemopoietic stem cell (HSC) biology and erythroid maturation in combination with single cell sequencing we will explore SF3B1 mutated MDS with ring sideroblasts with the aim to understand the clonal advantage of mutated over normal HSC and explore new molecular routes to prevent ineffective erythropoiesis and chronic transfusion dependency. Finally, we aim to implement and further improve recently developed methods for personalized minimal residual disease monitoring in a prospective clinical trial and thereby improve the cure rate after allogeneic stem cell transplantation in high-risk MDS. The long-term goal is to implement precision medicine in MDS in order to be able to predict and implement optimal management for each patient.
Funding agency:
- Swedish Cancer Society
Award number:
19 0200
Funding agency:
- Knut and Alice Wallenberg Foundation
Award number:
2017.0359
Funding agency:
- Swedish Cancer Society
Award number:
21 0340
