ALK+ histiocytosis:: a novel type of systemic histiocytic proliferative disorder of early infancy
ALK+ histiocytosis:: a novel type of systemic histiocytic proliferative disorder of early infancy
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DOI：
10.1182/blood-2008-03-147017
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发表时间：
2008-10-01
期刊：
影响因子：
20.3
通讯作者：
Chow, Chung W.
中科院分区：
文献类型：
--
作者：
Chan, John K. C.;Lamant, Laurence;Chow, Chung W.
我们报告了3例以前没有特征的组织细胞增多症，出现在婴儿早期，并显示ALK免疫反应性。患者表现为苍白、巨大肝脾肿大、贫血和血小板减少。肝活检显示血窦被大组织细胞浸润，细胞核明显折叠，染色质细，核仁小，大量轻度嗜酸性细胞质，有时空泡化或含有吞噬的血细胞。1例患者出现皮肤浸润，形态学上类似于幼年黄色肉芽肿。组织细胞对组织细胞标志物（CD 68、CD 163、溶菌酶）、S100蛋白、ALK（膜和胞质模式）和树突状细胞标志物（肌成束蛋白、因子XIIIa）呈免疫反应性，但对CD 1a和langerin无免疫反应性。1例通过分子技术成功分析的病例显示TPM 3-ALK融合。因此，应将ALK易位疾病的范围扩大至包括ALK（+）组织细胞增多症。3例患者（2例接受化疗）的疾病在数月内缓慢消退。
We report 3 cases of a previously uncharacterized form of histiocytosis presenting in early infancy and showing ALK immunoreactivity. The patients presented with pallor, massive hepatosplenomegaly, anemia, and thrombocytopenia. Liver biopsy showed infiltration of the sinusoids by large histiocytes with markedly folded nuclei, fine chromatin, small nucleoli, and voluminous lightly eosinophilic cytoplasm that sometimes was vacuolated or contained phagocytosed blood cells. One patient developed cutaneous infiltrates that morphologically resembled juvenile xanthogranuloma. The histiocytes were immunoreactive for histiocytic markers (CD68, CD163, lysozyme), S100 protein, ALK (membranous and cytoplasmic pattern), and dendritic cell markers (fascin, factor XIIIa), but not CD1a and langerin. One case successfully analyzed by molecular techniques revealed TPM3-ALK fusion. Thus the spectrum of diseases exhibiting ALK translocation should be expanded to include ALK(+) histiocytosis. The disease in the 3 patients (2 having been given chemotherapy) resolved slowly over many months.