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Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
Published on: September 1, 2019
Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome
Akira Nishimura1,2, Shinsuke Hirabayashi1,3, Daisuke Hasegawa1
1Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.
Abstract:
Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4-month-old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Whole-exome sequencing identified two somatic mutations, including RUNX1 p.S100F that was previously reported as associated with myeloid malignancies. The molecular defects associated with PS may have the potential to progress to advanced myelodysplastic syndrome .
Insights
Pearson syndrome, a rare mitochondrial DNA disorder, can progress to myelodysplastic syndrome. This case highlights somatic mutations, including RUNX1, in a patient with prolonged pancytopenia.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Background:
- Pearson syndrome (PS) is a rare mitochondrial DNA deletion disorder.
- It typically presents with sideroblastic anemia, pancreatic dysfunction, and vacuolization of bone marrow precursors.
- Spontaneous anemia recovery can occur, but long-term outcomes are variable.
Observation:
- A 4-month-old male with PS experienced severe, prolonged pancytopenia.
- This was followed by the emergence of monosomy 7.
- Whole-exome sequencing revealed somatic mutations, including RUNX1 p.S100F.
Findings:
- The identified RUNX1 p.S100F mutation is associated with myeloid malignancies.
- The molecular defects in PS may predispose individuals to developing advanced myelodysplastic syndrome (MDS).
Implications:
- This case underscores the potential for PS to evolve into MDS.
- Early molecular profiling is crucial for understanding PS progression.
- Further research into PS pathogenesis may reveal new therapeutic targets for associated myeloid malignancies.
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