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

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.

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Publication Details

Journal
American Journal of Medical Case Reports
Published
2025-08-12
DOI
https://doi.org/10.12691/ajmcr-13-7-1
Primary Topic
Multiple Myeloma Research and Treatments
Type
article
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article

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

José Rodríguez, Johanna Villegas, Leonardo Granados Altamirano, Betzabé Rojas Mena
American Journal of Medical Case Reports
Multiple Myeloma Research and Treatments
article

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

José Rodríguez, Johanna Villegas, Leonardo Granados Altamirano, Betzabé Rojas Mena
article en

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.

American Journal of Medical Case ReportsVol. 13(7)
Gender equality
Openalex Percentile: Top 75%
Multiple Myeloma Research and Treatments
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