Chen Weiwei, Jaffe Ronald, Zhang Linsheng, Hill Charlie, Block Anne Marie, Sait Sheila, Song Boer, Liu Yunguang, Cai Donghong
Department of Pathology, Buffalo General Hospital, State University of New York at Buffalo, Buffalo, NY 14214, USA.
N Am J Med Sci. 2013 Jun;5(6):386-91. doi: 10.4103/1947-2714.114172.
the phenomenon that histiocytic/dendritic cell sarcomas may be transformed from lymphoproliferative diseases is dubbed 'transdifferentiation'. Langerhans cell sarcoma (LCS) transdifferentiated from chronic lymphocytic leukemia/small cell lymphoma (CLL/SLL) is extremely rare. The underlying mechanisms of LCS tumorogenesis and its transdifferentiation from CLL/SLL are largely unknown.
the authors strive to further characterize LCS, to understand the potential molecular changes in LCS and the underlying mechanisms of CLL/SLL transformation to LCS.
a progressively enlarging right inguinal lymph node from a 68-year-old female patient with a history of CLL was biopsied and submitted for flow cytometry analysis, routine hematoxylin, and eosin (H and E) stain and immunohistochemical study. Furthermore, clonality study (fluorescent in situ hybridization (FISH) analysis with a CLL panel probes) and BRAF V600E mutation study (pyrosequencing and immunostain) were performed.
two different neoplasms, LCS and CLL/SLL, were discovered to occur simultaneously in the same lymph node. These two entities were shown to be clonally related. More importantly, for the first time, BRAF V600E mutation was detected in LCS.
LCS can be transdifferentiated from CLL/SLL and BRAF V600E mutation may provide the foundation for alternative therapy of LCS.
组织细胞/树突状细胞肉瘤可能由淋巴增殖性疾病转变而来的现象被称为“转分化”。从慢性淋巴细胞白血病/小细胞淋巴瘤（CLL/SLL）转分化而来的朗格汉斯细胞肉瘤（LCS）极为罕见。LCS肿瘤发生及其从CLL/SLL转分化的潜在机制在很大程度上尚不清楚。
作者努力进一步明确LCS的特征，了解LCS中潜在的分子变化以及CLL/SLL转变为LCS的潜在机制。
对一名有CLL病史的68岁女性患者逐渐增大的右侧腹股沟淋巴结进行活检，并进行流式细胞术分析、常规苏木精和伊红（H&E）染色及免疫组织化学研究。此外，进行了克隆性研究（使用CLL组探针的荧光原位杂交（FISH）分析）和BRAF V600E突变研究（焦磷酸测序和免疫染色）。
在同一淋巴结中同时发现了两种不同的肿瘤，即LCS和CLL/SLL。这两种实体显示为克隆相关。更重要的是，首次在LCS中检测到BRAF V600E突变。
LCS可由CLL/SLL转分化而来，BRAF V600E突变可能为LCS的替代治疗提供依据。
