Martin Flores-Stadler E, Gonzalez-Crussi F, Greene M, Thangavelu M, Kletzel M, Chou P M
Department of Pathology, Children's Memorial Hospital, Chicago, Illinois 60614, USA.
Med Pediatr Oncol. 1999 Apr;32(4):250-4. doi: 10.1002/(sici)1096-911x(199904)32:4<250::aid-mpo2>3.0.co;2-#.
The authors report the immunohistochemical, ultrastructural, and cytogenetic findings in a case of malignant histiocytic proliferation in an infant.
The patient presented initially with bone lesions without skin or systemic involvement. Multiple biopsies were studied extensively by immunohistochemistry and electron microscopy. Cytogenetic studies of cell cultures supplemented with granulocyte-monocyte colony stimulating factor (GM-CSF) were also performed.
Morphologically, the cells resembled Langerhans cells, although with greater pleomorphism, as evinced by cells with usual polylobated nuclei. These cells expressed markers for macrophages and antigen presenting cells and were CD1a- and S-100-positive, but lacked Birbeck granules. The cells grown in culture supplemented with GM-CSF showed a unique combination of numerical and structural abnormalities affecting chromosomes 1, 6, 8, and 10. The disease followed a malignant course leading to the patient's demise despite aggressive chemotherapy and bone marrow transplant.
The findings suggest a malignant hematopoietic stem-cell neoplasm with a capacity for macrophage or dendritic-cell differentiation. Morphology and immunophenotypic features place this neoplasm within the group recently conceptualized as indeterminate-cell histiocytosis.
作者报告了一例婴儿恶性组织细胞增生症的免疫组化、超微结构和细胞遗传学检查结果。
该患者最初表现为骨损害，无皮肤或全身受累。对多次活检组织进行了广泛的免疫组化和电子显微镜研究。还对添加粒细胞-单核细胞集落刺激因子（GM-CSF）的细胞培养物进行了细胞遗传学研究。
形态学上，细胞类似于朗格汉斯细胞，尽管具有更大的多形性，常见的多叶核细胞可证明这一点。这些细胞表达巨噬细胞和抗原呈递细胞的标志物，CD1a和S-100呈阳性，但缺乏伯贝克颗粒。在添加GM-CSF的培养基中培养的细胞显示出影响染色体1、6、8和10的数量和结构异常的独特组合。尽管进行了积极的化疗和骨髓移植，该疾病仍呈恶性病程，最终导致患者死亡。
这些发现提示这是一种具有巨噬细胞或树突状细胞分化能力的恶性造血干细胞肿瘤。形态学和免疫表型特征将该肿瘤归入最近被概念化为不确定细胞组织细胞增多症的类别。
