Kaneko Y, Maseki N, Sakurai M, Ido M, Tsunematsu Y, Mizutani S, Hattori T, Shimizu H, Eguchi H, Oka T
Department of Cancer Chemotherapy, Saitama Cancer Centre Hospital, Japan.
Br J Haematol. 1995 May;90(1):48-55. doi: 10.1111/j.1365-2141.1995.tb03379.x.
We studied chromosomes in bone marrow (BM) or peripheral blood cells of nine patients with haemophagocytic lymphohistiocytosis (HLH); three of them had a family history of HLH and four others underwent concurrent Epstein-Barr virus (EBV) infection. In addition to a large population of normal mitotic cells, karyotypically abnormal clonal cells were found in two patients, abnormal clonal cells and a nonclonal (single) abnormal cell in one, and nonclonal abnormal cells in three. All the six patients with chromosome abnormalities died of progressive disease; one of them also had EBV infection and EBV-associated clonal proliferation. Two of three patients with EBV infection and only normal mitotic cells in BM completely recovered from the disease. Although HLH did not show histological and/or haematological evidence of a neoplastic disease, clonal chromosome abnormalities and the fatal clinical outcome found in some of the patients suggest that the disease may be heterogenous and include malignancy. HLH patients with karyotypically abnormal clonal cells in BM should warrant more intensive chemotherapy than that presently being applied to them and should be considered as candidates for BM transplantation.
我们研究了9例噬血细胞性淋巴组织细胞增生症（HLH）患者骨髓（BM）或外周血细胞中的染色体；其中3例有HLH家族史，另外4例同时感染了爱泼斯坦-巴尔病毒（EBV）。除大量正常有丝分裂细胞外，2例患者发现了核型异常的克隆细胞，1例发现了异常克隆细胞和1个非克隆（单个）异常细胞，3例发现了非克隆异常细胞。所有6例染色体异常患者均死于疾病进展；其中1例也感染了EBV并出现EBV相关的克隆增殖。3例感染EBV且骨髓中仅有正常有丝分裂细胞的患者中有2例完全康复。尽管HLH未表现出肿瘤性疾病的组织学和/或血液学证据，但部分患者中发现的克隆染色体异常和致命的临床结局表明，该疾病可能具有异质性且包括恶性肿瘤。骨髓中存在核型异常克隆细胞的HLH患者应接受比目前更强化的化疗，并应被视为骨髓移植的候选者。
