Case Report of Acute Erythroid Leukemia with p53 Mutation in the Context of Myelodysplastic Syndrome in a Young Adult

Abstract

Acute Erythroid Leukemia (AEL) is a rare malignancy affecting late 60s elderly males, accounting for less than 1% of all myeloid leukaemias. Diagnosis is challenging in younger patients, requiring p53 immunohistochemistry's role. This case report presents a 34-year-old male with AEL in the context of Myelodysplastic Syndrome (MDS). The patient presented with repeated anaemia, weight loss, lethargy, and intolerance to exercise. A complete diagnostic work-up was undertaken with his history and physical examination, complete blood count, peripheral blood smear, bone marrow aspiration, trephine biopsy and cytogenetic analysis. The laboratory findings demonstrated the presence of anaemia, neutropenia, and circulating blasts in the peripheral blood. Bone marrow examination showed significant dyserythropoiesis, dysmegakaryopoiesis, some dysgranulopoiesis, and reticulin fibrosis, consistent with MDS. Immunohistochemistry showed increased erythroid precursors with expression of E-cadherin, p53, CD117, and Glycophorin A. Cytogenetic analysis demonstrated a chromosomal abnormality, ins (1;12) (p36.1; q21q13). All these features confirmed the diagnosis of AEL with underlying MDS. This case highlights the difficulty in diagnosing AEL in younger individuals and recommends integrating clinical, morphologic, and immunophenotypic data to make the correct diagnosis. Hence, p53 immunohistochemistry is very helpful in the detection of TP53 mutations, most especially in resource-limited settings where molecular testing might not be available.