A case of indeterminate cell histiocytosis with ETV3-NCOA2 translocation.

Norihito Suzuki, Takatoshi Shimauchi, Satoshi Baba, Yuka Nagakura, Juri Takahashi, Sayaka Ajima, Mizuho Tajima, Yurie Kitauchi, Reiko Kageyama, Tetsuya Honda
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Abstract

Indeterminate cell histiocytosis (ICH) is a rare histiocytic disorder characterized by a proliferation of CD1a+ and CD207/langerin- cells. Recent molecular analyses have identified ETV3-NCOA2 translocation as a possible aetiopathogenesis of ICH. Herein, we describe the first Japanese case of ICH with ETV3-NCOA2 translocation. A 79-year-old Japanese man presented with a 1-year history of pruritic erythematous papules and nodules on his trunk and extremities. Histological examination revealed a dense and diffuse sheets-like infiltration of medium-sized histiocyte-like cells from the epidermis to the deep dermis. Immunohistochemically, the atypical cells were positive for CD1a but negative for CD207/langerin. Fluorescence in situ hybridization using NCOA2 break-apart probes confirmed a chromosomal break occurring on NCOA2 monoallele in the tumor cells. Furthermore, ETV3 exon 4-NCOA2 exon 14 translocation was identified in formalin-fixed paraffin-embedded skin samples using reverse transcription polymerase chain reaction and subsequent direct DNA sequencing. He also presented with interspersed eczematous plaques on his trunk and reactive dermatopathic lymphoadenopathy without any infiltration of ICH. He was treated with topical corticosteroids and narrowband UVB phototherapy. Four months later, his ICH skin eruptions, eczematous plaques, and lymphoadenopathy gradually regressed. Our case supports the notion that the detection of ETV3-NCOA2 translocation can be useful for diagnosis of ICH.

一例伴有 ETV3-NCOA2 易位的不定形细胞组织细胞增生症。
不定形细胞组织细胞增生症(ICH)是一种罕见的组织细胞疾病,以 CD1a+ 和 CD207/langerin- 细胞增生为特征。最近的分子分析发现,ETV3-NCOA2 易位可能是 ICH 的发病机制之一。在此,我们描述了日本首例伴有 ETV3-NCOA2 易位的 ICH 病例。一名 79 岁的日本男子因躯干和四肢出现瘙痒性红斑丘疹和结节已有 1 年病史。组织学检查显示,中等大小的组织细胞样细胞从表皮到真皮深层呈密集、弥漫的片状浸润。免疫组化结果显示,非典型细胞的 CD1a 阳性,但 CD207/langerin 阴性。使用NCOA2断裂探针进行的荧光原位杂交证实,肿瘤细胞中的NCOA2单倍体发生了染色体断裂。此外,利用反转录聚合酶链反应和随后的直接DNA测序,在福尔马林固定的石蜡包埋皮肤样本中发现了ETV3第4外显子-NCOA2第14外显子易位。他的躯干上还出现了穿插性湿疹斑块和反应性皮肤病性淋巴结病,但没有任何 ICH 浸润。他接受了局部皮质类固醇激素和窄带紫外线光疗。四个月后,他的 ICH 皮肤糜烂、湿疹斑块和淋巴结病逐渐消退。我们的病例证实了检测 ETV3-NCOA2 易位有助于诊断 ICH 的观点。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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