Abe R, Akaike Y, Yokoyama A, Shikama Y, Ishibashi T, Mita M, Kimura H, Uchida T, Kariyone S, Wakasa H
First Department of Internal Medicine, Fukushima Medical College, Japan.
Cancer. 1990 Jun 15;65(12):2689-96. doi: 10.1002/1097-0142(19900615)65:12<2689::aid-cncr2820651216>3.0.co;2-1.
Cytogenetic analyses of three patients during autopsy who had a pathologic diagnosis of malignant histiocytosis and of one patient who was strongly suspected to have malignant histiocytosis because of her clinical and hematologic findings were done. All three patients studied with bone marrow specimens showed polyploidy (3.4-20%). Two of three patients with chromosomal abnormalities showed 17p+ markers with a breakpoint at 17p13. Seven of 22 previously reported malignant histiocytosis patients (32%) with descriptions of detailed whole karyotypes have the 17p+ markers, including two of the authors' patients. Five of seven patients with 17p+ involved 17p13. Although breakpoints at the 17p+ in the remaining two were not described, their karyotypes were shown to possibly involve 17p13. The high incidence of this abnormality is not considered accidental, and this breakpoint is not usual in many other neoplastic disorders. These facts may indicate that 17p13 chromosome abnormality is a specific change of malignant histiocytosis.
对三名经病理诊断为恶性组织细胞增多症的患者以及一名因临床和血液学检查结果而高度怀疑患有恶性组织细胞增多症的患者进行了尸检时的细胞遗传学分析。所有三名接受骨髓标本研究的患者均显示多倍体（3.4%-20%）。三名染色体异常患者中有两名显示17p+标记，断点位于17p13。在先前报道的22例有详细全核型描述的恶性组织细胞增多症患者中，有7例（32%）有17p+标记，包括作者的两名患者。7例17p+患者中有5例涉及17p13。尽管其余两例17p+的断点未作描述，但显示其核型可能涉及17p13。这种异常的高发生率并非偶然，而且在许多其他肿瘤性疾病中这个断点并不常见。这些事实可能表明17p13染色体异常是恶性组织细胞增多症的一种特异性改变。
