# Intramedullary erythrophagocytosis in myelodysplastic syndrome with heterozygous U2AF1 Q157R variant

## TL;DR

A rare case of myelodysplastic syndrome with a U2AF1 mutation shows increased red blood cell destruction in the bone marrow without typical hemolysis symptoms.

## Contribution

The study reports a unique case linking U2AF1 Q157R variant to intramedullary erythrophagocytosis in MDS.

## Key findings

- Intramedullary erythrophagocytosis was observed in a U2AF1-mutated MDS case.
- Clinical signs of hemolysis were absent despite increased erythrophagocytosis.
- The case suggests a need to study U2AF1 variants in MDS for distinct morphological features.

## Abstract

This report highlights a somewhat unique case of U2AF1 mutated myelodysplastic syndrome (MDS) with morphological evidence of increased intramedullary erythrophagocytosis, in the absence of obvious clinical signs of hemolysis. These findings merit investigation in a larger cohort of U2AF1 mutated MDS cases to further delineate the morphological spectrum of ineffective intramedullary hematopoiesis and nonimmune hemolysis, including features distinctive to S34 and Q157 variants.