Myeloid sarcoma: clinical features, bone marrow hematological characteristics, and prognosis of 20 cases

Objective To investigate the clinical features and prognosis of myeloid sarcoma (MS). Methods A retrospective analysis was conducted on the clinical data and bone marrow hematological test results of 20 MS patients diagnosed and treated in our department from December 2016 to January 2022. Clinical...

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Main Author: LIU Xian, HUANG Lifang, MENG Fankai, MENG Li, WANG Zhiqiong
Format: Article
Language:zho
Published: Editorial Office of Journal of Diagnostics Concepts & Practice 2025-02-01
Series:Zhenduanxue lilun yu shijian
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Online Access:https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1751006804338-1811818098.pdf
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author LIU Xian, HUANG Lifang, MENG Fankai, MENG Li, WANG Zhiqiong
author_facet LIU Xian, HUANG Lifang, MENG Fankai, MENG Li, WANG Zhiqiong
author_sort LIU Xian, HUANG Lifang, MENG Fankai, MENG Li, WANG Zhiqiong
collection DOAJ
description Objective To investigate the clinical features and prognosis of myeloid sarcoma (MS). Methods A retrospective analysis was conducted on the clinical data and bone marrow hematological test results of 20 MS patients diagnosed and treated in our department from December 2016 to January 2022. Clinical data were summarized, and the prognosis of three types of MS patients (isolated MS, MS with intramedullary lesions, and secondary MS after AML treatment) was analyzed. Results Among the 20 MS patients, 10 were male and 10 were female. The median age was 37 years (range: 6-62). The most common site of MS was the nasopharynx (25%), followed by the mediastinum (10%), thoracic vertebrae (10%), lymph nodes (10%), breast (10%), cervix (5%), eyes (5%), spleen (5%), testes (5%), abdomen (5%), sacrococcygeal region (5%), and pylorus (5%). There were 10 cases of isolated MS, 6 cases of MS with intramedullary lesions, and 4 cases of secondary MS after AML treatment. Immunohistochemical positive rates, from high to low, were CD99 (100%), CD43 (95%), MPO (95%), BCL-2 (90%), CD68 (75%), CD117 (50%), and CD34 (45%). TdT, CD3, CD20, and PAX-5 were all negative. Fusion gene testing was performed on 17 patients, with 7 positive results (7/17), including 3 cases of AML1-ETO (3/17), 2 cases of CBFβ-MYH11 (2/17), 1 case of MLL-AF10 (1/17), and 1 case of BCR/ABL1 (1/17). Chromosomal karyotype analysis was performed on 17 patients, and 6 showed abnormal karyotypes (6/17). Fluorescence in situ hybridization (FISH) was performed on 4 patients, with 3 positive results (3/4). Genetic mutation testing was conducted on 10 patients, with 9 positive results (9/10). The most frequent mutation was CEBPA (5 cases), followed by NRAS, FLT3, NPM1, and KIT (2 cases each). During the follow-up period of 1-38 months, 7 of the 20 MS patients died, and 13 survived. The cumulative survival rates at 1, 2, and 3 years were 75%, 70%, and 65%, respectively. No statistically significant difference in survival was observed among isolated MS, MS with intramedullary lesions, and secondary MS after AML treatment (P=0.718). Conclusion MS can occur in a wide range of anatomical sites. Pathological immunohistochemical markers, including CD43, CD99, CD68, MPO, CD34, and CD117, are critical for its diagnosis. Bone marrow hematological examination results can provide a basis for targeted therapy. There is no survival difference among the three types of MS patients, and systemic treatment is recommended for all patients.
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spelling doaj-art-37bc91ab0ee3494b8d2a97c70a5c952a2025-08-20T03:15:54ZzhoEditorial Office of Journal of Diagnostics Concepts & PracticeZhenduanxue lilun yu shijian1671-28702025-02-012401435010.16150/j.1671-2870.2025.01.007Myeloid sarcoma: clinical features, bone marrow hematological characteristics, and prognosis of 20 casesLIU Xian, HUANG Lifang, MENG Fankai, MENG Li, WANG Zhiqiong0Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology,Wuhan 430030Objective To investigate the clinical features and prognosis of myeloid sarcoma (MS). Methods A retrospective analysis was conducted on the clinical data and bone marrow hematological test results of 20 MS patients diagnosed and treated in our department from December 2016 to January 2022. Clinical data were summarized, and the prognosis of three types of MS patients (isolated MS, MS with intramedullary lesions, and secondary MS after AML treatment) was analyzed. Results Among the 20 MS patients, 10 were male and 10 were female. The median age was 37 years (range: 6-62). The most common site of MS was the nasopharynx (25%), followed by the mediastinum (10%), thoracic vertebrae (10%), lymph nodes (10%), breast (10%), cervix (5%), eyes (5%), spleen (5%), testes (5%), abdomen (5%), sacrococcygeal region (5%), and pylorus (5%). There were 10 cases of isolated MS, 6 cases of MS with intramedullary lesions, and 4 cases of secondary MS after AML treatment. Immunohistochemical positive rates, from high to low, were CD99 (100%), CD43 (95%), MPO (95%), BCL-2 (90%), CD68 (75%), CD117 (50%), and CD34 (45%). TdT, CD3, CD20, and PAX-5 were all negative. Fusion gene testing was performed on 17 patients, with 7 positive results (7/17), including 3 cases of AML1-ETO (3/17), 2 cases of CBFβ-MYH11 (2/17), 1 case of MLL-AF10 (1/17), and 1 case of BCR/ABL1 (1/17). Chromosomal karyotype analysis was performed on 17 patients, and 6 showed abnormal karyotypes (6/17). Fluorescence in situ hybridization (FISH) was performed on 4 patients, with 3 positive results (3/4). Genetic mutation testing was conducted on 10 patients, with 9 positive results (9/10). The most frequent mutation was CEBPA (5 cases), followed by NRAS, FLT3, NPM1, and KIT (2 cases each). During the follow-up period of 1-38 months, 7 of the 20 MS patients died, and 13 survived. The cumulative survival rates at 1, 2, and 3 years were 75%, 70%, and 65%, respectively. No statistically significant difference in survival was observed among isolated MS, MS with intramedullary lesions, and secondary MS after AML treatment (P=0.718). Conclusion MS can occur in a wide range of anatomical sites. Pathological immunohistochemical markers, including CD43, CD99, CD68, MPO, CD34, and CD117, are critical for its diagnosis. Bone marrow hematological examination results can provide a basis for targeted therapy. There is no survival difference among the three types of MS patients, and systemic treatment is recommended for all patients.https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1751006804338-1811818098.pdf|myeloid sarcoma|acute myelogenous leukemia|hematological examination
spellingShingle LIU Xian, HUANG Lifang, MENG Fankai, MENG Li, WANG Zhiqiong
Myeloid sarcoma: clinical features, bone marrow hematological characteristics, and prognosis of 20 cases
Zhenduanxue lilun yu shijian
|myeloid sarcoma|acute myelogenous leukemia|hematological examination
title Myeloid sarcoma: clinical features, bone marrow hematological characteristics, and prognosis of 20 cases
title_full Myeloid sarcoma: clinical features, bone marrow hematological characteristics, and prognosis of 20 cases
title_fullStr Myeloid sarcoma: clinical features, bone marrow hematological characteristics, and prognosis of 20 cases
title_full_unstemmed Myeloid sarcoma: clinical features, bone marrow hematological characteristics, and prognosis of 20 cases
title_short Myeloid sarcoma: clinical features, bone marrow hematological characteristics, and prognosis of 20 cases
title_sort myeloid sarcoma clinical features bone marrow hematological characteristics and prognosis of 20 cases
topic |myeloid sarcoma|acute myelogenous leukemia|hematological examination
url https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1751006804338-1811818098.pdf
work_keys_str_mv AT liuxianhuanglifangmengfankaimengliwangzhiqiong myeloidsarcomaclinicalfeaturesbonemarrowhematologicalcharacteristicsandprognosisof20cases