Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2023; 11(25): 6000-6004
Published online Sep 6, 2023. doi: 10.12998/wjcc.v11.i25.6000
Myeloid sarcoma as the only manifestation in a rare mixed lineage leukemia-fusion-driven acute myeloid leukemia: A case report
Sheng-Jie Tang, Qi-Guo Zhang
Sheng-Jie Tang, The First Clinical Medical College of Xuzhou Medical University, Xuzhou 221004, Jiangsu Province, China
Qi-Guo Zhang, Department of Hematology, Chuzhou Hospital affiliated to Anhui Medical University, Chuzhou 239001, Anhui Province, China
Author contributions: Tang SJ performed the study, collected the data, analyzed/interpreted the data, and drafted the article; Zhang QG supervised the study, contributed to the experimental design, and revised the paper.
Supported by Scientific Research Project of Anhui Provincial Health Commission, No. AHWJ2021b005.
Informed consent statement: Informed written consent was obtained from the patient and her parents for the publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Qi-Guo Zhang, MD, Chief Physician, Department of Hematology, Chuzhou Hospital affiliated to Anhui Medical University, No. 369 Zuiwen Road, Chuzhou 239001, Anhui Province, China. qgzhang8@sina.com
Received: June 26, 2023
Peer-review started: June 26, 2023
First decision: July 4, 2023
Revised: July 7, 2023
Accepted: August 8, 2023
Article in press: August 8, 2023
Published online: September 6, 2023
Processing time: 67 Days and 8.4 Hours
Abstract
BACKGROUND

The mixed lineage leukemia (MLL)-eleven-nineteen lysine-rich leukemia (ELL) fusion gene is a rare occurrence among the various MLL fusion genes. We present the first case in which myeloid sarcoma (MS) was the only manifestation of adult MLL-ELL-positive acute myeloid leukemia (AML).

CASE SUMMARY

We report a case of a 33-year-old male patient who was admitted in June 2022 with a right occipital area mass measuring approximately 7 cm × 8 cm. Blood work was normal. The patient underwent right occipital giant subscalp mass excision and incisional flap grafting. Immunohistochemistry was positive for myeloperoxidase, CD43 and CD45 and negative for CD3, CD20, CD34, and CD56. The bone marrow aspirate showed hypercellularity with 20% myeloblasts. Flow cytometry showed that myeloblasts accounted for 27.21% of the nucleated cells, which expressed CD33, CD38, and CD117. The karyotype was 46, XY, t (11, 19) (q23; p13.1), -12, + mar/46, XY. Next-generation sequencing showed a fusion of MLL exon 7 to exon 2 of ELL. A diagnosis of MLL-ELL-positive AML (M2 subtype) with subcutaneous MS was made.

CONCLUSION

MLL-ELL-positive AML with MS is a rare clinical entity. Additional research is needed to elucidate the molecular mechanisms of the pathogenesis of MS.

Keywords: Myeloid sarcoma; Acute myeloid leukemia; Mixed lineage leukemia-eleven-nineteen lysine-rich leukemia; Transplantation; Case report

Core Tip: This study described myeloid sarcoma as the first and only manifestation in an adult patient with mixed lineage leukemia-eleven-nineteen lysine-rich leukemia-positive acute myeloid leukemia. Based on our findings and information from a few previous reports, we speculate that our patient had (1): Transformation of preleukemia cells in the marrow followed by spread to extramedullary sites; or (2) homing of preleukemia cells to extramedullary sites, followed by spreading back to bone marrow. The current study helps increase the awareness of this particular disease and reduce the clinical underdiagnosis rate.