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同时发生的默克尔细胞癌和急性髓系白血病:一项诊断挑战。

Simultaneous merkel cell carcinoma and acute myeloid leukaemia: A diagnostic challenge.

作者信息

López-Pérez Juan, Garrastazul-Sánchez Mª Paz, Valenzuela-Caballero Ana, Atienza-Cuevas Lidia, Gardelegui-Pérez Mª Inmaculada, de la Varga-Martínez Raquel

机构信息

Servicio de Inmunología. UGC Hematología e Inmunología, Hospital Universitario Puerta del Mar, Cádiz, Spain.

Servicio de Hematología. UGC Hematología e Inmunología, Hospital Universitario Puerta del Mar, Cádiz, Spain.

出版信息

J Hematop. 2024 Dec;17(4):255-258. doi: 10.1007/s12308-024-00600-y. Epub 2024 Aug 17.

Abstract

Merkel cell carcinoma is a very aggressive primary skin tumour with a high risk of local recurrences and lymphatic and distant metastases. The frequent association between this carcinoma and other skin tumour and lymphoid malignancies, its similar cellular morphology with leukocytes, and limited infiltration in bone marrow constituted a challenging diagnosis. We report an unusual case of an 82-year-old male who simultaneously presented Merkel cell carcinoma and acute myeloid lymphoma. The diagnosis was established through flow cytometry, immunohistochemical studies and next generation sequencing (NGS) analysis. Flow cytometry allowed for the differentiation of the two cell populations in bone marrow aspirate, which was crucial to the diagnosis of Merkel cell carcinoma and acute myeloid leukaemia (AML), after confirmed by immunohistochemistry. AML could be classified based on NGS results. Following diagnosis, the patient received palliative care and died 50 days later. immunophenotypic analysis by flow cytometry and Immunohistochemical study was crucial to establish the diagnosis of simultaneous affection of Merkel cell carcinoma and hematologic disorder.

摘要

默克尔细胞癌是一种侵袭性很强的原发性皮肤肿瘤,局部复发、淋巴转移和远处转移风险高。这种癌与其他皮肤肿瘤及淋巴系统恶性肿瘤频繁相关,其细胞形态与白细胞相似,且在骨髓中的浸润有限,这构成了具有挑战性的诊断难题。我们报告了一例不寻常的病例,一名82岁男性同时患有默克尔细胞癌和急性髓系淋巴瘤。诊断通过流式细胞术、免疫组织化学研究及二代测序(NGS)分析得以确立。流式细胞术可区分骨髓穿刺液中的两种细胞群,在免疫组织化学证实后,这对默克尔细胞癌和急性髓系白血病(AML)的诊断至关重要。AML可根据NGS结果进行分类。确诊后,患者接受了姑息治疗,50天后死亡。流式细胞术免疫表型分析和免疫组织化学研究对于确立默克尔细胞癌与血液系统疾病同时存在的诊断至关重要。

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