Work

Myeloid Sarcoma with a PICALM–MLLT10 Fusion Presenting as an Isolated Mediastinal Mass in a Middle-Aged Asian Male: A Case Report

Year: 2025

Type: article

Abstract: Myeloid sarcoma (MS), also known as granulocytic sarcoma or chloroma, is a rare extramedullary manifestation of acute myeloid leukemia (AML). Mediastinal presentation is exceedingly uncommon and may lead to misdiagnosis, particularly when hematologic parameters are preserved. We report the case of a 44-year-old male who presented with constitutional symptoms and an isolated anterior mediastinal mass without peripheral blood abnormalities. Diagnosis was established through flow cytometry, histopathology, and immunohistochemistry. Molecular profiling revealed a complex mutational landscape including PHF6, TP53, WT1 mutations, and a PICALM–MLLT10 fusion. The patient was treated with AML-directed chemotherapy and remains under close surveillance. This case highlights the diagnostic challenges and prognostic implications of extramedullary AML with rare genetic alterations.

Source: American Journal of Medical Case Reports

DOI: 10.12691/ajmcr-13-7-1

Authors: Jorge López Villegas, Leonardo Granados Altamirano, José Rojas Rodríguez, Betzabé Rojas Mena

Institution: Costa Rican Department of Social Security

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4413178316