1Hematology Department, Dr. Rafael Ángel Calderón Guardia Hospital, Caja Costarricense de Seguro Social, San José, Costa Rica
21Hematology Department, Dr. Rafael Ángel Calderón Guardia Hospital, Caja Costarricense de Seguro Social, San José, Costa Rica
American Journal of Medical Case Reports.
2025,
Vol. 13 No. 7, 37-40
DOI: 10.12691/ajmcr-13-7-1
Copyright © 2025 Science and Education PublishingCite this paper: Jorge López Villegas, Leonardo Granados Altamirano, José Rojas Rodríguez, Betzabé Rojas Mena. Myeloid Sarcoma with a PICALM–MLLT10 Fusion Presenting as an Isolated Mediastinal Mass in a Middle-Aged Asian Male: A Case Report.
American Journal of Medical Case Reports. 2025; 13(7):37-40. doi: 10.12691/ajmcr-13-7-1.
Correspondence to: Jorge López Villegas, Hematology Department, Dr. Rafael Ángel Calderón Guardia Hospital, Caja Costarricense de Seguro Social, San José, Costa Rica. Email:
jlopezv@ccss.sa.crAbstract
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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