Mache C J, Slavc I, Schmid C, Hoefler G, Urban C E, Schwinger W, Winter E, Hulla W, Zenz W, Holter W
Univ.-Kinderklinik Graz, Austria.
Ann Hematol. 1994 Aug;69(2):85-91. doi: 10.1007/BF01698488.
Two siblings with evidence of disseminated T-cell lymphoma at the time of diagnosis of familial hemophagocytic lymphohistiocytosis (FHL) are reported, an association which has not been described previously. The first child with typical clinical and laboratory features of FHL died shortly after admission, before diagnosis could be established. Retrospective analysis of autoptic tissue revealed marked hemophagocytosis as well as morphological and immunohistochemical features suggestive of disseminated T-cell lymphoma. In the second child, FHL was diagnosed in time. Subsequent histologic investigation of bone marrow biopsies displayed a focal infiltration by T-cell lymphoma. DNA hybridization studies provided evidence of a monoclonal T-cell receptor beta chain gene rearrangement. Following conventional chemotherapeutic induction for FHL, the patient received an allogeneic bone marrow transplant (BMT) from a related healthy donor. Currently, 17 months after BMT, the boy is in unmaintained remission from FHL and T-cell lymphoma. The current pathogenetic concepts for FHL and a possible relationship between T-cell lymphoma and FHL are discussed.
报告了两例在诊断家族性噬血细胞性淋巴组织细胞增生症（FHL）时伴有播散性T细胞淋巴瘤证据的 siblings，这种关联此前尚未见报道。首例具有典型FHL临床和实验室特征的患儿在入院后不久死亡，未能确诊。对尸检组织的回顾性分析显示有明显的噬血细胞现象以及提示播散性T细胞淋巴瘤的形态学和免疫组化特征。第二例患儿及时诊断出FHL。随后对骨髓活检的组织学检查显示有T细胞淋巴瘤的局灶性浸润。DNA杂交研究提供了单克隆T细胞受体β链基因重排的证据。在对FHL进行常规化疗诱导后，该患者接受了来自相关健康供体的异基因骨髓移植（BMT）。目前，BMT后17个月，该男孩处于FHL和T细胞淋巴瘤的未维持缓解状态。讨论了FHL目前的发病机制概念以及T细胞淋巴瘤与FHL之间可能的关系。
