骨髓发育性瘤和骨髓性肉瘤与背景中芽细胞瘤的同时发生:一个尸检案例
Yuto Kaimi1, Toshihiro Haga1, Yuhei Yamaguchi2
1Departments of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan.
概括
本病例报告详细介绍了一种罕见的同时呈现的原发性中间体生殖细胞瘤 (MGCT) 与骨髓质瘤 (MDS) 和骨髓状肉瘤 (MS). 早期考虑血液性恶性瘤对于MGCT患者具有异常症状至关重要.
科学领域:
- 在瘤学瘤学.
- 血液学 血液学 血液学
- 病理学 病理学 病理学
背景情况:
- 原发性中枢胚芽细胞瘤 (MGCT) 很少与血液性恶性瘤 (HM) 相关,通常在初始诊断后出现.
- 同时发生MGCT和HM的患者通常面临更差的预后.
研究的目的:
- 报告一个极为罕见的尸检案例,同时呈现MGCT,骨髓质疏松性瘤 (MDS) 和骨髓质肉瘤 (MS).
- 强调在MGCT患者中考虑HM的重要性,这些患者呈现出极端中关节病变或血小板狭窄.
主要方法:
- 一名27岁男性的尸检,同时患有MGCT,MDS和MS.
- 组织病理学检查中质,淋巴结,肝脏,脏和小肠.
- 免疫组织化学 (CD33,MPO,p53),血清学测试 (AFP,hCG),骨髓吸收,G-绑定,以及下一代测序 (TP53,KRAS).
主要成果:
- 该MGCT包括瘤,黄囊瘤,半瘤和胆瘤组件.
- 尸体解剖显示多个器官的外骨髓不成熟髓质突起 (CD33 +,MPO +),表明髓质肉瘤,没有骨髓转化为急性髓质白血病.
- 基因分析确定了TP53拼接位变异和KRAS突变,在髓质突变中丧失了p53表达.
结论:
- 这一案例强调了怀疑初级中中胚细胞瘤患者的血液恶性瘤的关键需要,这些患者表现出非典型的症状,如外中胚细胞质量或血栓细胞减小.
- 同时发生MGCT,MDS和MS非常罕见,并与预后不佳相关,需要及时诊断和管理.
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