Demir Derya, Hekimgil Mine, Karaca Emin, Ulusoy Yusuf, Özdemir Hamiyet Hekimci, Saydam Güray, Durmaz Burak, Akın Haluk, Çetingül Nazan, Tombuloğlu Murat, Özsan Nazan
Pathology, Ege University Faculty of Medicine, Izmir, Turkey
Pathology, Ege University Faculty of Medicine, Izmir, Turkey.
J Clin Pathol. 2023 Apr;76(4):244-251. doi: 10.1136/jcp-2021-208000. Epub 2022 Aug 4.
Myeloid sarcoma (MS) is a rare tumour comprising myeloid blasts occurring at an anatomical site other than the bone marrow. We sought to investigate both paediatric and adult patients with MS diagnosed at our institution and determine possible correlations among their clinicopathological, phenotypic, molecular and prognostic features.
This study retrospectively evaluated the data of 45 patients diagnosed with MS at Ege University Faculty of Medicine Hospital, Turkey, over a 17-year period.
The male-to-female ratio was 1.5:1, and the median age was 39.12 years. The most commonly involved sites were the skin, lymph nodes, soft tissues and bone. Immunohistochemically, CD68-KP1 was the most commonly expressed marker, followed by CD33, myeloperoxidase, CD117, lysozyme, CD68-PGM1 and CD34. Of the patients, 26 (57.7%) presented with de novo MS, 7 (15.5%) had simultaneous acute myeloid leukaemia and 12 (26.8%) had a previous history of haematological disorders. Kaplan-Meier survival analysis revealed that the 2-year and 5-year overall survival (OS) rates were 46.4% and 39.8%, respectively; the median OS duration was 11 months. Increasing age had a negative prognostic relationship with survival (p = 0.04). Chromosomal abnormalities were detected in approximately 6/10 (60%) of paediatric patients and 6/9 (66.7%) of adult patients. t(8;21)(q22;q22) translocation was identified in 20% of paediatric patients.
MS diagnosis is usually challenging; an expanded immunohistochemical panel should be used for an accurate diagnosis. Although MS generally has a poor prognosis, increasing age appears to be associated with a worse outcome.
髓系肉瘤（MS）是一种罕见肿瘤，由发生于骨髓以外解剖部位的髓系母细胞组成。我们试图对在我们机构诊断出的儿童和成人MS患者进行研究，并确定其临床病理、表型、分子和预后特征之间的可能相关性。
本研究回顾性评估了土耳其伊兹密尔埃杰大学医学院医院17年间诊断为MS的45例患者的数据。
男女比例为1.5:1，中位年龄为39.12岁。最常受累的部位是皮肤、淋巴结、软组织和骨骼。免疫组化显示，CD68-KP1是最常表达的标志物，其次是CD33、髓过氧化物酶、CD117、溶菌酶、CD68-PGM1和CD34。患者中，26例（57.7%）为原发性MS，7例（15.5%）同时患有急性髓系白血病，12例（26.8%）有血液系统疾病病史。Kaplan-Meier生存分析显示，2年和5年总生存率（OS）分别为46.4%和39.8%；中位OS持续时间为11个月。年龄增加与生存呈负性预后关系（p = 0.04）。约6/10（60%）的儿童患者和6/9（66.7%）的成人患者检测到染色体异常。20%的儿童患者中发现t(8;21)(q22;q22)易位。
MS的诊断通常具有挑战性；应使用扩展的免疫组化检测组合进行准确诊断。虽然MS总体预后较差，但年龄增加似乎与更差的结局相关。
