Kletzel M, Gollin S M, Gloster E S, Jimenez J F, Golladay E S, Berry D H
Cancer. 1986 Jun 1;57(11):2153-7. doi: 10.1002/1097-0142(19860601)57:11<2153::aid-cncr2820571112>3.0.co;2-a.
Familial hemophagocytic lymphohistiocytosis (FHLH) is an uncommon disorder characterized by multiorgan infiltration with phagocytic histiocytes/macrophages. It may be inherited as an autosomal recessive trait, but specific associated cytogenetic abnormalities have not been documented. The authors describe a 10-week-old white female without prior family history of FHLH, who fulfilled the histologic and clinical criteria for the diagnosis. In addition, cytogenetic abnormalities, including the presence of double minute chromosomes and occasional loss of chromosomes 7 and 12, were documented in unstimulated peripheral blood cells. These karyotypic findings are usually associated with dyserythropoietic and leukemic states, and have not been described previously in the context of FHLH. It may be useful to do chromosome analyses on unstimulated peripheral blood cultures from FHLH patients before treatment to examine the karyotype of proliferating cells, which may represent the infiltrative histiocytes seen in the disorder.
家族性噬血细胞性淋巴组织细胞增生症（FHLH）是一种罕见的疾病，其特征是吞噬性组织细胞/巨噬细胞浸润多个器官。它可能作为常染色体隐性性状遗传，但尚未记录到特定相关的细胞遗传学异常。作者描述了一名10周大的白人女性，其家族中无FHLH病史，该患者符合诊断的组织学和临床标准。此外，在未经刺激的外周血细胞中记录到细胞遗传学异常，包括双微体染色体的存在以及偶尔的7号和12号染色体缺失。这些核型结果通常与异常红细胞生成和白血病状态相关，此前尚未在FHLH的背景下进行过描述。在治疗前对FHLH患者未经刺激的外周血培养物进行染色体分析，以检查增殖细胞的核型，这可能代表该疾病中所见的浸润性组织细胞，这可能是有用的。
