Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States of America.
Department of Anatomic Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States of America.
Ann Diagn Pathol. 2022 Aug;59:151951. doi: 10.1016/j.anndiagpath.2022.151951. Epub 2022 Apr 20.
The development of clonally related hematologic neoplasms in the setting of primary mediastinal germ cell tumors (PMGCTs) has been recognized previously and is associated with a dismal prognosis. However, the presentation of hematologic neoplasms as chronic myelomonocytic leukemia (CMML) and hemophagocytic lymphohistiocytosis (HLH) has been rarely reported. Here we report two patients with PMGCTs and hematologic neoplasms. The PMGCT was composed mostly of yolk sac tumor whereas the hematologic neoplasms had morphologic features that resembled CMML and HLH. The hematologic neoplasms from both patients harbored isochromosome 12p [i(12p)] and TP53 mutations, supporting a clonal relationship between these tumors. This association represents a unique clinical syndrome that likely contributes to the poor clinical outcome of these patients.
先前已有研究表明，原发性纵隔生殖细胞瘤（PMGCT）患者可能会继发克隆性血液系统肿瘤，且预后不良。但是，血液系统肿瘤以慢性粒单核细胞白血病（CMML）和噬血细胞性淋巴组织细胞增多症（HLH）形式表现的情况较为罕见。本文报道了两例 PMGCT 合并血液系统肿瘤的患者。PMGCT 主要由卵黄囊瘤组成，而血液系统肿瘤的形态学特征类似于 CMML 和 HLH。两名患者的血液系统肿瘤均存在 12 号染色体短臂等臂染色体（i[12p]）和 TP53 基因突变，提示这些肿瘤之间存在克隆关系。这种关联代表了一种独特的临床综合征，可能导致这些患者的临床结局较差。
