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ALK-positive histiocytosis: an expanded clinicopathologic spectrum and frequent presence of KIF5B-ALK fusion.
Modern Pathology ( IF 7.1 ) Pub Date : 2018-12-20 , DOI: 10.1038/s41379-018-0168-6 Kenneth Tou En Chang 1, 2 , Amos Zhi En Tay 1 , Chik Hong Kuick 1 , Huiyi Chen 1 , Elizabeth Algar 3, 4 , Nadine Taubenheim 3 , Janine Campbell 5 , Francoise Mechinaud 6 , Martin Campbell 6 , Leanne Super 6 , Chavit Chantranuwat 7 , S T Yuen 8 , John K C Chan 9 , Chung W Chow 10, 11
Modern Pathology ( IF 7.1 ) Pub Date : 2018-12-20 , DOI: 10.1038/s41379-018-0168-6 Kenneth Tou En Chang 1, 2 , Amos Zhi En Tay 1 , Chik Hong Kuick 1 , Huiyi Chen 1 , Elizabeth Algar 3, 4 , Nadine Taubenheim 3 , Janine Campbell 5 , Francoise Mechinaud 6 , Martin Campbell 6 , Leanne Super 6 , Chavit Chantranuwat 7 , S T Yuen 8 , John K C Chan 9 , Chung W Chow 10, 11
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In 2008, we presented three cases of ALK-positive histiocytosis as a novel systemic histiocytic proliferation of early infancy with hepatosplenomegaly and dramatic hematological disturbances. This series of 10 cases (including the original three cases) describes an expanded clinicopathological spectrum and the molecular findings of this histiocytic proliferation. Six patients had disseminated disease: five presented in early infancy with eventual disease resolution, and the sixth presented at 2 years of age and died of intestinal, bone marrow, and brain involvement. The other four patients had localized disease involving nasal skin, foot, breast, and intracranial cavernous sinus - the first three had no recurrence after surgical resection, while the cavernous sinus lesion showed complete resolution with crizotinib therapy. The lesional histiocytes were very large, with irregularly folded nuclei, fine chromatin, and abundant eosinophilic cytoplasm, sometimes with emperipolesis. There could be an increase in foamy histiocytes and Touton giant cells with time, resembling juvenile xanthogranuloma. Immunostaining showed that the histiocytes were positive for ALK, histiocytic markers (CD68, CD163) and variably S100, while being negative for CD1a, CD207, and BRAF-V600E. Next-generation sequencing-based anchored multiplex PCR (Archer® FusionPlex®) performed in six cases identified KIF5B-ALK gene fusion in five and COL1A2-ALK fusion in one. There was no correlation of gene fusion type with disease localization or dissemination. The clinicopathological spectrum of ALK-positive histiocytosis is broader than originally described, and this entity is characterized by frequent presence of KIF5B-ALK gene fusion. We recommend that every unusual histiocytic proliferative disorder, especially disseminated lesions, be tested for ALK expression because of the potential efficacy of ALK inhibitor therapy in unresectable or disseminated disease.
中文翻译：
ALK 阳性组织细胞增生症：扩展的临床病理学谱和频繁存在的 KIF5B-ALK 融合。
2008 年，我们报告了三例 ALK 阳性组织细胞增生症，这是一种新型的婴儿早期系统性组织细胞增生症，伴有肝脾肿大和严重的血液学紊乱。这一系列的 10 个病例（包括最初的三个病例）描述了扩展的临床病理学谱和这种组织细胞增殖的分子发现。6 名患者患有播散性疾病：5 名在婴儿早期就诊，最终疾病消退，6 名在 2 岁时就诊，死于肠道、骨髓和脑部受累。其他四名患者的局部疾病涉及鼻部皮肤、足部、乳房和颅内海绵窦——前三名患者在手术切除后没有复发，而海绵窦病变在克唑替尼治疗后完全消退。病变组织细胞很大，细胞核折叠不规则，染色质细密，胞质嗜酸性丰富，有时有穿刺。随着时间的推移，泡沫状组织细胞和 Touton 巨细胞可能会增加，类似于幼年黄色肉芽肿。免疫染色显示组织细胞对 ALK、组织细胞标志物（CD68、CD163）和可变的 S100 呈阳性，而对 CD1a、CD207 和 BRAF-V600E 呈阴性。基于下一代测序的锚定多重 PCR (Archer® FusionPlex®) 在 6 例中进行，鉴定出 5 例 KIF5B-ALK 基因融合和 1 例 COL1A2-ALK 融合。基因融合类型与疾病定位或传播没有相关性。ALK 阳性组织细胞增生症的临床病理学范围比最初描述的要广，并且该实体的特征在于频繁存在KIF5B-ALK基因融合。我们建议对每一种不常见的组织细胞增生性疾病，尤其是播散性病变，进行 ALK 表达检测，因为 ALK 抑制剂治疗对不可切除或播散性病变具有潜在疗效。
更新日期：2019-01-26
中文翻译：
ALK 阳性组织细胞增生症：扩展的临床病理学谱和频繁存在的 KIF5B-ALK 融合。
2008 年，我们报告了三例 ALK 阳性组织细胞增生症，这是一种新型的婴儿早期系统性组织细胞增生症，伴有肝脾肿大和严重的血液学紊乱。这一系列的 10 个病例（包括最初的三个病例）描述了扩展的临床病理学谱和这种组织细胞增殖的分子发现。6 名患者患有播散性疾病：5 名在婴儿早期就诊，最终疾病消退，6 名在 2 岁时就诊，死于肠道、骨髓和脑部受累。其他四名患者的局部疾病涉及鼻部皮肤、足部、乳房和颅内海绵窦——前三名患者在手术切除后没有复发，而海绵窦病变在克唑替尼治疗后完全消退。病变组织细胞很大，细胞核折叠不规则，染色质细密，胞质嗜酸性丰富，有时有穿刺。随着时间的推移，泡沫状组织细胞和 Touton 巨细胞可能会增加，类似于幼年黄色肉芽肿。免疫染色显示组织细胞对 ALK、组织细胞标志物（CD68、CD163）和可变的 S100 呈阳性，而对 CD1a、CD207 和 BRAF-V600E 呈阴性。基于下一代测序的锚定多重 PCR (Archer® FusionPlex®) 在 6 例中进行，鉴定出 5 例 KIF5B-ALK 基因融合和 1 例 COL1A2-ALK 融合。基因融合类型与疾病定位或传播没有相关性。ALK 阳性组织细胞增生症的临床病理学范围比最初描述的要广，并且该实体的特征在于频繁存在KIF5B-ALK基因融合。我们建议对每一种不常见的组织细胞增生性疾病，尤其是播散性病变，进行 ALK 表达检测，因为 ALK 抑制剂治疗对不可切除或播散性病变具有潜在疗效。
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