Syrykh Charlotte, Ysebaert Loïc, Péricart Sarah, Evrard Solène M, Meggetto Fabienne, Kanoun Salim, Brousset Pierre, Laurent Camille
Department of Pathology, Toulouse University Hospital Center, Cancer Institute University of Toulouse-Oncopole, 1 avenue Irène Joliot-Curie, 31059, Toulouse CEDEX 9, France.
INSERM UMR1037 Cancer Research Center of Toulouse (CRCT), ERL 5294 National Center for Scientific Research (CNRS), University of Toulouse III Paul-Sabatier, Toulouse, France.
Virchows Arch. 2021 Apr;478(4):779-783. doi: 10.1007/s00428-020-02937-y. Epub 2020 Oct 3.
ALK-positive histiocytosis is a recently described entity with few reported cases in literature. Herein, we report an unusual case of ALK-positive histiocytosis showing an Erdheim-Chester disease (ECD)-like presentation, occurring in a 37-year-old woman with a 2-year history of chronic lymphocytic leukaemia (CLL). Our CLL patient relapsed 6 months after the end of fludarabine, cyclophosphamide and rituximab frontline therapy and complained of lower limb pains. A bone marrow biopsy was performed and showed concomitant CLL/small lymphocytic lymphoma and ALK-positive histiocytosis with an identical immunoglobulin heavy-chain gene rearrangement in both neoplasms, suggesting clonal relationship. After 4 years under ibrutinib therapy, our patient remains free of both diseases. This report extends the spectrum of composite hematolymphoid neoplasms and shows that ALK rearrangement should be considered in all histiocytosis subtypes. Moreover, both tumours eradication under ibrutinib suggests that BTK inhibitors may also be effective in histiocytic neoplasms.
ALK 阳性组织细胞增多症是一种最近才被描述的疾病实体，文献中报道的病例较少。在此，我们报告一例不寻常的 ALK 阳性组织细胞增多症病例，该病例表现为类似 Erdheim-Chester 病（ECD），发生在一名患有慢性淋巴细胞白血病（CLL）2 年的 37 岁女性身上。我们的 CLL 患者在氟达拉滨、环磷酰胺和利妥昔单抗一线治疗结束后 6 个月复发，并伴有下肢疼痛。进行了骨髓活检，结果显示同时存在 CLL/小淋巴细胞淋巴瘤和 ALK 阳性组织细胞增多症，两种肿瘤具有相同的免疫球蛋白重链基因重排，提示存在克隆关系。在接受依鲁替尼治疗 4 年后，我们的患者两种疾病均未复发。本报告扩展了复合性血液淋巴系统肿瘤的范围，并表明在所有组织细胞增多症亚型中都应考虑 ALK 重排。此外，依鲁替尼治疗使两种肿瘤均得到根除，这表明布鲁顿酪氨酸激酶（BTK）抑制剂可能对组织细胞肿瘤也有效。
