# Development of Myelodysplastic Syndrome in a Patient With Pernicious Anemia During the Course of Replacement Treatment

## TL;DR

A patient with pernicious anemia developed myelodysplastic syndrome after treatment, suggesting a possible link between the two conditions.

## Contribution

The study suggests a potential association between pernicious anemia and myelodysplastic syndrome through WT1 mRNA expression.

## Key findings

- A patient with pernicious anemia later developed myelodysplastic syndrome despite initial treatment success.
- WT1 mRNA was detected in 10 out of 30 patients with megaloblastic anemia, indicating a potential link to hematopoietic tumors.

## Abstract

Megaloblastic anemia (MBA) is a reversible metabolic disorder that responds well to vitamin B12 supplementation. It contrasts with myelodysplastic syndrome (MDS), an irreversible neoplastic condition characterized by hematopoietic stem cell abnormalities. To date, no association has been identified between these two distinct etiologies, and they are considered independent diseases. However, despite their distinct classifications, both conditions present macrocytic anemia, similar bone marrow findings, and sometimes have common chromosomal abnormalities, which can lead to occasional misdiagnoses. Herein, we present a patient initially diagnosed with pernicious anemia (PA) who showed improvement with replacement therapy but subsequently became resistant to treatment and eventually developed MDS. Quantitative assessment of Wilm’s tumor-1 (WT1) mRNA has emerged as a valuable tool for gauging MDS disease status and distinguishing it from related disorders, such as aplastic anemia. In our investigation of 30 patients with MBA, we explored WT1 mRNA expression. We observed its presence in 10 patients with PA, which suggests a potential link between PA and hematopoietic tumors.