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Updated: Jul 28, 2025
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Pediatric Myelodysplastic Syndrome with SF3B1 Mutation
Britt Boles1,2, Matthew Shiel1,3, Juli-Anne Gardner1,2
1Larner College of Medicine, University of Vermont, Burlington, VT.
Objectives:
Patients with Fanconi Anemia (FA) have an increased risk of developing myeloid malignancies, which often precede the diagnosis of FA. We describe a patient with non-specific clinical findings diagnosed with myelodysplastic syndrome (MDS) at 17 years of age. A pathogenic SF3B1 alteration was identified and prompted evaluation for a bone marrow failure syndrome. Chromosomal breakage testing demonstrated an increase in breakage and radial formation; a targeted FA molecular panel identified variants of unknown significance in FANCB and FANCM. To date, reports of pediatric patients, with or without a co-morbid diagnosis of FA, diagnosed with MDS with SF3B1 alteration are rare. We describe a patient with FA diagnosed with MDS with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD, WHO revised 4th edition) with an associated SF3B1 alteration and discuss the new classifications of this entity. In addition, as the knowledge around FA grows, so too does the knowledge about genes associated with FA. We present a novel variant of unknown significance in FANCB, to add to the growing body of literature about genetic alterations identified in individuals with a clinical picture most in keeping with FA.
Insights
This study details a rare case of a 17-year-old diagnosed with myelodysplastic syndrome (MDS) and Fanconi Anemia (FA). The findings highlight the importance of genetic evaluation for MDS in young patients, especially those with potential bone marrow failure syndromes.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Fanconi Anemia (FA) patients face a higher risk of myeloid malignancies.
- Myelodysplastic syndrome (MDS) can precede FA diagnosis, presenting with non-specific symptoms.
- SF3B1 alterations are increasingly recognized in MDS, particularly in younger patients.
Purpose of the Study:
- To report a rare case of a pediatric patient diagnosed with MDS with SF3B1 alteration and Fanconi Anemia.
- To discuss the diagnostic challenges and evolving classifications of MDS in FA patients.
- To contribute to the understanding of genetic variants associated with FA and related disorders.
Main Methods:
- Clinical case presentation of a 17-year-old diagnosed with MDS.
- Genetic analysis including SF3B1 mutation detection and a targeted FA molecular panel.
- Chromosomal breakage testing to assess for FA-related abnormalities.
Main Results:
- The patient was diagnosed with MDS with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) with an SF3B1 pathogenic alteration.
- Chromosomal breakage testing showed increased breakage and radial formation, consistent with FA.
- Novel variants of unknown significance were identified in FANCB and FANCM genes.
Conclusions:
- This case underscores the importance of considering FA in young patients with MDS, especially those with SF3B1 alterations.
- The findings support the evolving understanding of MDS classifications in the context of FA.
- Identification of new variants in FA-associated genes like FANCB expands the genetic landscape of FA.
