Suenaga Mitsuhiro, Matsushita Kakushi, Kawamata Nakaaki, Kukita Toshimasa, Hamakawa Yuji, Gejima Kentaro, Onodera Reiri, Sato Tetsuo, Yamaguchi Akihiko, Inoue Hirosaka, Arimura Kosei, Arima Naomichi, Yoshida Hiroki, Tei Chuwa
Department of Cardiovascular, Respiratory and Metabolic Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Acta Haematol. 2006;116(1):62-6. doi: 10.1159/000092350.
A 24-year-old Japanese man was admitted due to bloody phlegm in May 2002. A diagnosis of mediastinal germ cell tumor, mixed type involving seminoma, immature teratoma and embryonal carcinoma, was made by transthoracic needle biopsy. Three months later, his complete blood counts revealed pancytopenia with high fever. Examination of bone marrow revealed increased atypical large histiocytes (5.6%) with hemophagocytosis, and thus, hemophagocytic syndrome related to germ cell tumor was diagnosed. In addition, chromosomal analysis of the bone marrow cells revealed a 47, XY, +9 genotype. Chemotherapies for germ cell tumor and hemophagocytic syndrome were performed without any improvement, and he died of diffuse alveolar damage. Autopsy revealed diffuse infiltration of immature histiocytes with hemophagocytosis in the liver, spleen and bone marrow. The atypical histiocytes were positive for CD68 and lysozyme and negative for lymphoid markers, and the diagnosis of true malignant histiocytosis associated with mediastinal germ cell tumor was made. The rare chromosomal abnormality of trisomy 9, a marker for benzene-related leukemia, was seen in the present case without apparent benzene exposure.
一名24岁的日本男性于2002年5月因咯血痰入院。经胸针吸活检诊断为纵隔生殖细胞肿瘤，混合型，包含精原细胞瘤、未成熟畸胎瘤和胚胎癌。三个月后，他的全血细胞计数显示全血细胞减少并伴有高热。骨髓检查发现非典型大组织细胞增多（5.6%）并伴有噬血细胞现象，因此诊断为与生殖细胞肿瘤相关的噬血细胞综合征。此外，骨髓细胞的染色体分析显示为47, XY, +9基因型。针对生殖细胞肿瘤和噬血细胞综合征进行了化疗，但病情没有改善，患者死于弥漫性肺泡损伤。尸检显示肝脏、脾脏和骨髓中有未成熟组织细胞弥漫浸润并伴有噬血细胞现象。非典型组织细胞CD68和溶菌酶呈阳性，淋巴标记物呈阴性，诊断为与纵隔生殖细胞肿瘤相关的真性恶性组织细胞增多症。在本病例中，未发现明显苯暴露的情况下却出现了罕见的9号染色体三体异常，这是苯相关白血病的一个标志物。
